6392[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 597721.	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 GRCh37: Chr11:100219331-134910140 GRCh38: Chr11:100348599-135040246	AASDHPPT, ABCG4, ACAD8, ACAT1, ACRV1, ADAMTS15, ADAMTS8, ALG9, ALKBH8, ANGPTL5, ANKK1, APLP2, APOA1, APOA1-AS, APOA4, APOA5, APOC3, ARCN1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGAP42-AS1, ARHGEF12, ATM, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BCO2, BIRC2, BIRC3, BLID, BSX, BTG4, BUD13, C11orf52, C11orf65, C11orf71, C11orf87, C1QTNF5, C2CD2L, CADM1, CADM1-AS1, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP126, CEP164, CFAP300, CFAP68, CHEK1, CLDN25, CLMP, CNTN5, COLCA1, CRTAM, CRYAB, CUL5, CWF19L2, CXCR5, DCPS, DCUN1D5, DDI1, DDX10, DDX25, DDX6, DIXDC1, DLAT, DPAGT1, DRD2, DSCAML1, DYNC2H1, EI24, ELMOD1, ESAM, ESAM-AS1, ETS1, ETS1-AS1, EXPH5, FAM118B, FDX1, FDXACB1, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIA4, GRIK4, GSEC, GUCY1A2, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HOATZ, HSPA8, HSPB2, HSPB2-C11orf52, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, IL18, JAM3, JAML, JHY, KBTBD3, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LAYN, LINC00900, LINC01395, LINC02098, LINC02151, LINC02550, LINC02551, LINC02552, LINC02697, LINC02702, LINC02703, LINC02706, LINC02712, LINC02714, LINC02715, LINC02719, LINC02725, LINC02727, LINC02730, LINC02731, LINC02732, LINC02743, LINC02744, LINC02762, LINC02763, LINC02764, LINC02873, LOC100131626, LOC100132078, LOC100132686, LOC100507548, LOC100652768, LOC101928535, LOC101928847, LOC101928940, LOC101928985, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC102723838, LOC105369509, LOC105369532, LOC105369535, LOC105369558, LOC106865368, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC108491825, LOC110120853, LOC110120944, LOC110121342, LOC110121415, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC111718489, LOC111982889, LOC111982891, LOC111982892, LOC111982893, LOC111982894, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC113939918, LOC113939919, LOC114803469, LOC116225302, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392936, LOC121392937, LOC121392938, LOC121392939, LOC121392940, LOC121392941, LOC121392942, LOC121392943, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832819, LOC121832820, LOC121832821, LOC121832822, LOC121832823, LOC121832824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124625831, LOC124625832, LOC124625833, LOC124625834, LOC124625835, LOC124625836, LOC124625837, LOC124625838, LOC124625839, LOC124625840, LOC124625841, LOC124625842, LOC124625843, LOC124625844, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC126861328, LOC126861329, LOC126861330, LOC126861331, LOC126861332, LOC126861333, LOC126861334, LOC126861335, LOC126861336, LOC126861337, LOC126861338, LOC126861339, LOC126861340, LOC126861341, LOC126861342, LOC126861343, LOC126861344, LOC126861345, LOC126861346, LOC126861347, LOC126861348, LOC126861349, LOC126861350, LOC126861351, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772354, LOC128772355, LOC128772356, LOC128772357, LOC128772358, LOC128772359, LOC128772360, LOC128772361, LOC128772362, LOC128772363, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR34B, MIR34BHG, MIR34C, MIR3920, MIR4301, MIR4491, MIR4492, MIR4493, MIR4693, MIR4697, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, MSANTD4, NCAM1, NCAM1-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NPAT, NRGN, NTM, NTM-AS1, NTM-IT, NXPE1, NXPE2, NXPE4, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDGFD, PGR, PGR-AS1, PHLDB1, PIH1D2, PKNOX2, PKNOX2-AS1, PKNOX2-DT, PLET1, POGLUT3, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPP2R1B, PRDM10, PRDM10-DT, PTS, PUS3, RAB39A, RBM7, RDX, REXO2, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SDHD, SENCR, SIAE, SIDT2, SIK2, SIK3, SLC35F2, SLC37A2, SLC37A4, SLN, SMIM35, SNORD13I, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, TEX12, THY1, THYN1, TIMM8B, TIRAP, TIRAP-AS1, TLCD5, TMEM123, TMEM123-DT, TMEM133, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TRPC6, TTC12, TTC12-DT, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, USP28, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, YAP1, ZBTB16, ZBTB44, ZBTB44-DT, ZC3H12C, ZNF202, ZPR1, ZW10		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1455332.	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3 GRCh37: Chr11:111530104-112126455 GRCh38: Chr11:111659380-112255732	ALG9, BCO2, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HSPB2, HSPB2-C11orf52, IL18, LOC111982891, LOC124625837, LOC124625838, LOC126861338, LOC126861339, NKAPD1, PIH1D2, PLET1, PPP2R1B, PTS, SDHD, SIK2, TEX12, TIMM8B		See cases	Uncertain significance (Aug 27, 2010)	no assertion criteria provided
Select item 2394593.	NM_003002.3(SDHD):c.-84_*831del GRCh37: Chr11:111957548-111966525 GRCh38: Chr11:112086824-112095801	LOC126861339, SDHD		Pheochromocytoma, Paragangliomas 1	Pathogenic (Jun 1, 2016)	criteria provided, single submitter
Select item 5841684.	NC_000011.10:g.(?_112086898)_(112094980_?)del GRCh37: Chr11:111957622-111965704 GRCh38: Chr11:112086898-112094980	LOC126861339, SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Paragangliomas 1, Carney-Stratakis syndrome, Pheochromocytoma	Pathogenic (Apr 14, 2021)	criteria provided, single submitter
Select item 5839275.	NC_000011.9:g.(?_111957622)_(111965704_?)dup GRCh37: Chr11:111957622-111965704 GRCh38: Chr11:112086898-112094980	LOC126861339, SDHD		Cowden syndrome 3, Paragangliomas 1, Carney-Stratakis syndrome, Pheochromocytoma	Uncertain significance (Jun 12, 2018)	criteria provided, single submitter
Select item 13203736.	NM_003002.4(SDHD):c.-4C>A GRCh37: Chr11:111957628 GRCh38: Chr11:112086904	LOC126861339, SDHD		not provided	Uncertain significance (Dec 21, 2020)	criteria provided, single submitter
Select item 8253577.	NM_003002.4(SDHD):c.-4C>G GRCh37: Chr11:111957628 GRCh38: Chr11:112086904	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 6199138.	NM_003002.4(SDHD):c.-4C>T GRCh37: Chr11:111957628 GRCh38: Chr11:112086904	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4226299.	NM_003002.4(SDHD):c.1A>T (p.Met1Leu) GRCh37: Chr11:111957632 GRCh38: Chr11:112086908	LOC126861339, SDHD	M1L	Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 691110.	NM_003002.4(SDHD):c.1A>G (p.Met1Val) GRCh37: Chr11:111957632 GRCh38: Chr11:112086908	LOC126861339, SDHD	M1V	Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 57996811.	NM_003002.4(SDHD):c.3G>A (p.Met1Ile) GRCh37: Chr11:111957634 GRCh38: Chr11:112086910	LOC126861339, SDHD	M1I	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 690612.	NM_003002.4(SDHD):c.3G>C (p.Met1Ile) GRCh37: Chr11:111957634 GRCh38: Chr11:112086910	LOC126861339, SDHD	M1I	Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64688313.	NM_003002.4(SDHD):c.4G>A (p.Ala2Thr) GRCh37: Chr11:111957635 GRCh38: Chr11:112086911	LOC126861339, SDHD	A2T	Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 85221214.	NM_003002.4(SDHD):c.5C>T (p.Ala2Val) GRCh37: Chr11:111957636 GRCh38: Chr11:112086912	LOC126861339, SDHD	A2V	Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57947315.	NM_003002.4(SDHD):c.5C>G (p.Ala2Gly) GRCh37: Chr11:111957636 GRCh38: Chr11:112086912	LOC126861339, SDHD	A2G	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 175662116.	NM_003002.4(SDHD):c.6G>C (p.Ala2=) GRCh37: Chr11:111957637 GRCh38: Chr11:112086913	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome	Likely benign (Apr 7, 2020)	criteria provided, single submitter
Select item 76662717.	NM_003002.4(SDHD):c.6G>A (p.Ala2=) GRCh37: Chr11:111957637 GRCh38: Chr11:112086913	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss	Likely benign (Aug 27, 2018)	criteria provided, single submitter
Select item 142419418.	NM_003002.4(SDHD):c.7G>C (p.Val3Leu) GRCh37: Chr11:111957638 GRCh38: Chr11:112086914	LOC126861339, SDHD	V3L	Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 136714919.	NM_003002.4(SDHD):c.7G>A (p.Val3Ile) GRCh37: Chr11:111957638 GRCh38: Chr11:112086914	LOC126861339, SDHD	V3I	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 46524620.	NM_003002.4(SDHD):c.7G>T (p.Val3Phe) GRCh37: Chr11:111957638 GRCh38: Chr11:112086914	LOC126861339, SDHD	V3F	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 80673721.	NM_003002.4(SDHD):c.12_13del (p.Trp5fs) GRCh37: Chr11:111957640-111957641 GRCh38: Chr11:112086916-112086917	LOC126861339, SDHD	W5fs	not provided	Likely pathogenic (Mar 1, 2017)	criteria provided, single submitter
Select item 46524822.	NM_003002.4(SDHD):c.9T>A (p.Val3=) GRCh37: Chr11:111957640 GRCh38: Chr11:112086916	LOC126861339, SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Mar 13, 2017)	criteria provided, single submitter
Select item 23946023.	NM_003002.4(SDHD):c.10dup (p.Leu4fs) GRCh37: Chr11:111957640-111957641 GRCh38: Chr11:112086916-112086917	LOC126861339, SDHD	L4fs	Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 179197524.	NM_003002.4(SDHD):c.10C>G (p.Leu4Val) GRCh37: Chr11:111957641 GRCh38: Chr11:112086917	LOC126861339, SDHD	L4V	Hereditary cancer-predisposing syndrome	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 82216825.	NM_003002.4(SDHD):c.10C>T (p.Leu4Phe) GRCh37: Chr11:111957641 GRCh38: Chr11:112086917	LOC126861339, SDHD	L4F	Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158816526.	NM_003002.4(SDHD):c.12C>T (p.Leu4=) GRCh37: Chr11:111957643 GRCh38: Chr11:112086919	LOC126861339, SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 177177327.	NM_003002.4(SDHD):c.13T>A (p.Trp5Arg) GRCh37: Chr11:111957644 GRCh38: Chr11:112086920	LOC126861339, SDHD	W5R	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61836228.	NM_003002.4(SDHD):c.13_14del (p.Trp5fs) GRCh37: Chr11:111957644-111957645 GRCh38: Chr11:112086920-112086921	LOC126861339, SDHD	W5fs	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, not provided	Pathogenic (Oct 16, 2019)	criteria provided, multiple submitters, no conflicts
Select item 41251429.	NM_003002.4(SDHD):c.13T>C (p.Trp5Arg) GRCh37: Chr11:111957644 GRCh38: Chr11:112086920	LOC126861339, SDHD	W5R	Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 691630.	NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) GRCh37: Chr11:111957645 GRCh38: Chr11:112086921	LOC126861339, SDHD	W5*	Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 191792431.	NM_003002.4(SDHD):c.15G>A (p.Trp5Ter) GRCh37: Chr11:111957646 GRCh38: Chr11:112086922	LOC126861339, SDHD	W5*	Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 57617832.	NM_003002.4(SDHD):c.16A>G (p.Arg6Gly) GRCh37: Chr11:111957647 GRCh38: Chr11:112086923	LOC126861339, SDHD	R6G	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 178037233.	NM_003002.4(SDHD):c.17G>A (p.Arg6Lys) GRCh37: Chr11:111957648 GRCh38: Chr11:112086924	LOC126861339, SDHD	R6K	Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 54776934.	NM_003002.4(SDHD):c.18_21del (p.Leu7fs) GRCh37: Chr11:111957648-111957651 GRCh38: Chr11:112086924-112086927	LOC126861339, SDHD	L7fs	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Paragangliomas 1	Pathogenic/Likely pathogenic (Jan 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 58140235.	NM_003002.4(SDHD):c.18G>T (p.Arg6Ser) GRCh37: Chr11:111957649 GRCh38: Chr11:112086925	LOC126861339, SDHD	R6S	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 23946236.	NM_003002.4(SDHD):c.18G>A (p.Arg6=) GRCh37: Chr11:111957649 GRCh38: Chr11:112086925	LOC126861339, SDHD		Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, not provided, not specified	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46522637.	NM_003002.4(SDHD):c.19C>T (p.Leu7=) GRCh37: Chr11:111957650 GRCh38: Chr11:112086926	LOC126861339, SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Likely benign (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143604938.	NM_003002.4(SDHD):c.20T>C (p.Leu7Pro) GRCh37: Chr11:111957651 GRCh38: Chr11:112086927	LOC126861339, SDHD	L7P	Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103643439.	NM_003002.4(SDHD):c.20T>A (p.Leu7Gln) GRCh37: Chr11:111957651 GRCh38: Chr11:112086927	LOC126861339, SDHD	L7Q	Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 94683840.	NM_003002.4(SDHD):c.20T>G (p.Leu7Arg) GRCh37: Chr11:111957651 GRCh38: Chr11:112086927	LOC126861339, SDHD	L7R	Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 213187441.	NM_003002.4(SDHD):c.21G>T (p.Leu7=) GRCh37: Chr11:111957652 GRCh38: Chr11:112086928	LOC126861339, SDHD		Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 178761442.	NM_003002.4(SDHD):c.21G>C (p.Leu7=) GRCh37: Chr11:111957652 GRCh38: Chr11:112086928	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 46522743.	NM_003002.4(SDHD):c.21G>A (p.Leu7=) GRCh37: Chr11:111957652 GRCh38: Chr11:112086928	LOC126861339, SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85787244.	NM_003002.4(SDHD):c.22A>G (p.Ser8Gly) GRCh37: Chr11:111957653 GRCh38: Chr11:112086929	LOC126861339, SDHD	S8G	Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 106214945.	NM_003002.4(SDHD):c.23G>A (p.Ser8Asn) GRCh37: Chr11:111957654 GRCh38: Chr11:112086930	LOC126861339, SDHD	S8N	Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65323046.	NM_003002.4(SDHD):c.25G>A (p.Ala9Thr) GRCh37: Chr11:111957656 GRCh38: Chr11:112086932	LOC126861339, SDHD	A9T	Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 64398647.	NM_003002.4(SDHD):c.25G>T (p.Ala9Ser) GRCh37: Chr11:111957656 GRCh38: Chr11:112086932	LOC126861339, SDHD	A9S	Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 138469248.	NM_003002.4(SDHD):c.26C>T (p.Ala9Val) GRCh37: Chr11:111957657 GRCh38: Chr11:112086933	LOC126861339, SDHD	A9V	Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63902349.	NM_003002.4(SDHD):c.26C>G (p.Ala9Gly) GRCh37: Chr11:111957657 GRCh38: Chr11:112086933	LOC126861339, SDHD	A9G	Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 161994650.	NM_003002.4(SDHD):c.27C>T (p.Ala9=) GRCh37: Chr11:111957658 GRCh38: Chr11:112086934	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46523151.	NM_003002.4(SDHD):c.27C>A (p.Ala9=) GRCh37: Chr11:111957658 GRCh38: Chr11:112086934	LOC126861339, SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 46523252.	NM_003002.4(SDHD):c.28G>A (p.Val10Ile) GRCh37: Chr11:111957659 GRCh38: Chr11:112086935	LOC126861339, SDHD	V10I	Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Feb 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163113053.	NM_003002.4(SDHD):c.33C>T (p.Cys11=) GRCh37: Chr11:111957664 GRCh38: Chr11:112086940	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Likely benign (Sep 30, 2021)	criteria provided, single submitter
Select item 691554.	NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) GRCh37: Chr11:111957664 GRCh38: Chr11:112086940	LOC126861339, SDHD	C11*	Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, Paragangliomas 1, Pheochromocytoma	Pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215160355.	NM_003002.4(SDHD):c.34G>C (p.Gly12Arg) GRCh37: Chr11:111957665 GRCh38: Chr11:112086941	LOC126861339, SDHD	G12R	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 689556.	NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) GRCh37: Chr11:111957665 GRCh38: Chr11:112086941	LOC126861339, SDHD	G12S	Mitochondrial complex 2 deficiency, nuclear type 3, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, not provided, not specified, Paragangliomas 1, Carney-Stratakis syndrome, Pheochromocytoma ...see more	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 146334557.	NM_003002.4(SDHD):c.35G>T (p.Gly12Val) GRCh37: Chr11:111957666 GRCh38: Chr11:112086942	LOC126861339, SDHD	G12V	Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 46523558.	NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) GRCh37: Chr11:111957666 GRCh38: Chr11:112086942	LOC126861339, SDHD	G12D	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 75931359.	NM_003002.4(SDHD):c.36T>G (p.Gly12=) GRCh37: Chr11:111957667 GRCh38: Chr11:112086943	LOC126861339, SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma	Likely benign (Apr 30, 2018)	criteria provided, single submitter
Select item 53378960.	NM_003002.4(SDHD):c.37G>T (p.Ala13Ser) GRCh37: Chr11:111957668 GRCh38: Chr11:112086944	LOC126861339, SDHD	A13S	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53378561.	NM_003002.4(SDHD):c.37G>A (p.Ala13Thr) GRCh37: Chr11:111957668 GRCh38: Chr11:112086944	LOC126861339, SDHD	A13T	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 84083362.	NM_003002.4(SDHD):c.38C>G (p.Ala13Gly) GRCh37: Chr11:111957669 GRCh38: Chr11:112086945	LOC126861339, SDHD	A13G	Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 57046863.	NM_003002.4(SDHD):c.38C>T (p.Ala13Val) GRCh37: Chr11:111957669 GRCh38: Chr11:112086945	LOC126861339, SDHD	A13V	Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75555664.	NM_003002.4(SDHD):c.39C>T (p.Ala13=) GRCh37: Chr11:111957670 GRCh38: Chr11:112086946	LOC126861339, SDHD		Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Mar 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 41250365.	NM_003002.4(SDHD):c.40C>T (p.Leu14=) GRCh37: Chr11:111957671 GRCh38: Chr11:112086947	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Likely benign (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23946966.	NM_003002.4(SDHD):c.42A>G (p.Leu14=) GRCh37: Chr11:111957673 GRCh38: Chr11:112086949	LOC126861339, SDHD		Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Apr 26, 2020)	criteria provided, multiple submitters, no conflicts
Select item 94152867.	NM_003002.4(SDHD):c.44_52+24del GRCh37: Chr11:111957674-111957706 GRCh38: Chr11:112086950-112086982	LOC126861339, SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Likely pathogenic (Jul 18, 2019)	criteria provided, single submitter
Select item 65076268.	NM_003002.4(SDHD):c.43G>C (p.Gly15Arg) GRCh37: Chr11:111957674 GRCh38: Chr11:112086950	LOC126861339, SDHD	G15R	Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 100490569.	NM_003002.4(SDHD):c.44G>C (p.Gly15Ala) GRCh37: Chr11:111957675 GRCh38: Chr11:112086951	LOC126861339, SDHD	G15A	Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111632070.	NM_003002.4(SDHD):c.45A>T (p.Gly15=) GRCh37: Chr11:111957676 GRCh38: Chr11:112086952	LOC126861339, SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 46524271.	NM_003002.4(SDHD):c.46G>T (p.Gly16Cys) GRCh37: Chr11:111957677 GRCh38: Chr11:112086953	LOC126861339, SDHD	G16C	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, not provided	Uncertain significance (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46524172.	NM_003002.4(SDHD):c.46G>C (p.Gly16Arg) GRCh37: Chr11:111957677 GRCh38: Chr11:112086953	LOC126861339, SDHD	G16R	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 48644373.	NM_003002.4(SDHD):c.48C>T (p.Gly16=) GRCh37: Chr11:111957679 GRCh38: Chr11:112086955	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Likely benign (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131925874.	NM_003002.4(SDHD):c.49C>T (p.Arg17Ter) GRCh37: Chr11:111957680 GRCh38: Chr11:112086956	LOC126861339, SDHD	R17*	Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 94798075.	NM_003002.4(SDHD):c.49C>G (p.Arg17Gly) GRCh37: Chr11:111957680 GRCh38: Chr11:112086956	LOC126861339, SDHD	R17G	not specified, not provided, Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105243776.	NM_003002.4(SDHD):c.50G>A (p.Arg17Gln) GRCh37: Chr11:111957681 GRCh38: Chr11:112086957	LOC126861339, SDHD	R17Q	Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 174600577.	NM_003002.4(SDHD):c.51A>G (p.Arg17=) GRCh37: Chr11:111957682 GRCh38: Chr11:112086958	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 16, 2020)	criteria provided, single submitter
Select item 23947478.	NM_003002.4(SDHD):c.51A>C (p.Arg17=) GRCh37: Chr11:111957682 GRCh38: Chr11:112086958	LOC126861339, SDHD		Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 174603579.	NM_003002.4(SDHD):c.52+1_52+2delinsAA GRCh37: Chr11:111957684-111957685 GRCh38: Chr11:112086960-112086961	LOC126861339, SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82554380.	NM_003002.4(SDHD):c.52+1G>A GRCh37: Chr11:111957684 GRCh38: Chr11:112086960	LOC126861339, SDHD		Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66385481.	NM_003002.4(SDHD):c.52+2T>C GRCh37: Chr11:111957685 GRCh38: Chr11:112086961	LOC126861339, SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 689482.	NM_003002.4(SDHD):c.52+2T>G GRCh37: Chr11:111957685 GRCh38: Chr11:112086961	LOC126861339, SDHD		Pheochromocytoma	Likely pathogenic (Nov 30, 2021)	criteria provided, single submitter
Select item 113096283.	NM_003002.4(SDHD):c.52+8dup GRCh37: Chr11:111957687-111957688 GRCh38: Chr11:112086963-112086964	LOC126861339, SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 164144084.	NM_003002.4(SDHD):c.52+8del GRCh37: Chr11:111957688 GRCh38: Chr11:112086964	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Benign (Feb 12, 2021)	criteria provided, single submitter
Select item 97124185.	NM_003002.4(SDHD):c.52+5G>A GRCh37: Chr11:111957688 GRCh38: Chr11:112086964	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65920086.	NM_003002.4(SDHD):c.52+5G>C GRCh37: Chr11:111957688 GRCh38: Chr11:112086964	LOC126861339, SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 29, 2020)	criteria provided, multiple submitters, no conflicts
Select item 46524487.	NM_003002.4(SDHD):c.52+6G>A GRCh37: Chr11:111957689 GRCh38: Chr11:112086965	LOC126861339, SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 154036288.	NM_003002.4(SDHD):c.52+7G>C GRCh37: Chr11:111957690 GRCh38: Chr11:112086966	LOC126861339, SDHD		Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma, Cowden syndrome 3	Likely benign (Mar 15, 2021)	criteria provided, single submitter
Select item 115147089.	NM_003002.4(SDHD):c.52+8G>A GRCh37: Chr11:111957691 GRCh38: Chr11:112086967	LOC126861339, SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 163874790.	NM_003002.4(SDHD):c.52+10C>G GRCh37: Chr11:111957693 GRCh38: Chr11:112086969	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 160850791.	NM_003002.4(SDHD):c.52+12T>C GRCh37: Chr11:111957695 GRCh38: Chr11:112086971	LOC126861339, SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 162662992.	NM_003002.4(SDHD):c.52+13C>G GRCh37: Chr11:111957696 GRCh38: Chr11:112086972	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 163064893.	NM_003002.4(SDHD):c.52+15C>T GRCh37: Chr11:111957698 GRCh38: Chr11:112086974	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 162663894.	NM_003002.4(SDHD):c.52+17C>T GRCh37: Chr11:111957700 GRCh38: Chr11:112086976	LOC126861339, SDHD		Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 212570995.	NM_003002.4(SDHD):c.52+18C>T GRCh37: Chr11:111957701 GRCh38: Chr11:112086977	LOC126861339, SDHD		Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 165478596.	NM_003002.4(SDHD):c.52+19C>T GRCh37: Chr11:111957702 GRCh38: Chr11:112086978	LOC126861339, SDHD		Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 22401597.	NM_003002.4(SDHD):c.52+24G>A GRCh37: Chr11:111957707 GRCh38: Chr11:112086983	LOC126861339, SDHD		Hereditary cancer-predisposing syndrome	Likely benign (Dec 1, 2015)	no assertion criteria provided
Select item 129272698.	NM_003002.4(SDHD):c.52+136G>T GRCh37: Chr11:111957819 GRCh38: Chr11:112087095	LOC126861339, SDHD		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 50641799.	NM_003002.4(SDHD):c.53-52_53-49del GRCh37: Chr11:111958526-111958529 GRCh38: Chr11:112087802-112087805	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Hereditary cancer-predisposing syndrome, not specified	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2034829100.	NM_003002.4(SDHD):c.53-18T>C GRCh37: Chr11:111958563 GRCh38: Chr11:112087839	SDHD		Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter

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