ClinVar for MedGen (Select 358258) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24246041.	NC_000011.9:g.(?_111171709)_(111958707_?)del GRCh37: Chr11:111171709-111958707	HOATZ, DLAT, MIR34C, DIXDC1, PIH1D2, PPP2R1B, LAYN, HSPB2, SDHD, CFAP68, SIK2, MIR34B, TIMM8B, MIR34BHG, CRYAB, POU2AF3, BTG4, FDXACB1, C11orf52, ALG9, NKAPD1, POU2AF1		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 24246032.	NC_000011.9:g.(?_111957547)_(111959745_?)dup GRCh37: Chr11:111957547-111959745	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 24246023.	NC_000011.9:g.(?_111171709)_(111959745_?)del GRCh37: Chr11:111171709-111959745	HOATZ, TIMM8B, PPP2R1B, SDHD, CRYAB, LAYN, FDXACB1, DIXDC1, MIR34B, POU2AF1, PIH1D2, DLAT, MIR34BHG, HSPB2, NKAPD1, BTG4, SIK2, CFAP68, C11orf52, POU2AF3, ALG9, MIR34C		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 21516034.	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 21510255.	NM_003002.4(SDHD):c.169+16C>T GRCh37: Chr11:111958713 GRCh38: Chr11:112087989	SDHD		Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 21451856.	NM_003002.4(SDHD):c.408T>A (p.Phe136Leu) GRCh37: Chr11:111965622 GRCh38: Chr11:112094898	SDHD	F136L, F97L	Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 21447257.	NM_003002.4(SDHD):c.170-10C>A GRCh37: Chr11:111959581 GRCh38: Chr11:112088857	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 21443248.	NM_003002.4(SDHD):c.314+17C>T GRCh37: Chr11:111959752 GRCh38: Chr11:112089028	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 21340439.	NM_003002.4(SDHD):c.102T>G (p.Phe34Leu) GRCh37: Chr11:111958630 GRCh38: Chr11:112087906	SDHD	F34L	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 213187410.	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 213160411.	NM_003002.4(SDHD):c.247G>A (p.Ala83Thr) GRCh37: Chr11:111959668 GRCh38: Chr11:112088944	SDHD	A44T, A83T	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 212745112.	NM_003002.4(SDHD):c.53-3C>T GRCh37: Chr11:111958578 GRCh38: Chr11:112087854	SDHD		Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212570913.	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 212126214.	NM_003002.4(SDHD):c.62T>C (p.Leu21Pro) GRCh37: Chr11:111958590 GRCh38: Chr11:112087866	SDHD	L21P	Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211922315.	NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser) GRCh37: Chr11:111959672 GRCh38: Chr11:112088948	SDHD	Y84S, Y45S	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211854116.	NM_003002.4(SDHD):c.307G>C (p.Gly103Arg) GRCh37: Chr11:111959728 GRCh38: Chr11:112089004	SDHD	G103R, G64R	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 210093317.	NM_003002.4(SDHD):c.393T>C (p.Leu131=) GRCh37: Chr11:111965607 GRCh38: Chr11:112094883	SDHD	F83S	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209509118.	NM_003002.4(SDHD):c.102T>A (p.Phe34Leu) GRCh37: Chr11:111958630 GRCh38: Chr11:112087906	SDHD	F34L	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209349519.	NM_003002.4(SDHD):c.314+15T>A GRCh37: Chr11:111959750 GRCh38: Chr11:112089026	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 208990020.	NM_003002.4(SDHD):c.53-2A>C GRCh37: Chr11:111958579 GRCh38: Chr11:112087855	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Likely pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 208878721.	NM_003002.4(SDHD):c.390A>G (p.Ala130=) GRCh37: Chr11:111965604 GRCh38: Chr11:112094880	SDHD	H82R	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 208423022.	NM_003002.4(SDHD):c.264C>A (p.Cys88Ter) GRCh37: Chr11:111959685 GRCh38: Chr11:112088961	SDHD	C88, C49	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 208297323.	NM_003002.4(SDHD):c.381G>T (p.Gly127=) GRCh37: Chr11:111965595 GRCh38: Chr11:112094871	SDHD	G79V	Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jan 16, 2023)	criteria provided, conflicting interpretations
Select item 205926624.	NM_003002.4(SDHD):c.53-7T>C GRCh37: Chr11:111958574 GRCh38: Chr11:112087850	SDHD		Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 204932825.	NM_003002.4(SDHD):c.192C>A (p.Leu64=) GRCh37: Chr11:111959613 GRCh38: Chr11:112088889	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 203751926.	NM_003002.4(SDHD):c.303T>G (p.Leu101=) GRCh37: Chr11:111959724 GRCh38: Chr11:112089000	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 203641327.	NM_003002.4(SDHD):c.480A>T (p.Ter160Cys) GRCh37: Chr11:111965694 GRCh38: Chr11:112094970	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 203526528.	NM_003002.4(SDHD):c.136_143del (p.Val46fs) GRCh37: Chr11:111958663-111958670 GRCh38: Chr11:112087939-112087946	SDHD	V46fs	Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 203482929.	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
Select item 203330030.	NM_003002.4(SDHD):c.315-16T>G GRCh37: Chr11:111965513 GRCh38: Chr11:112094789	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203264831.	NM_003002.4(SDHD):c.474_475delinsTT (p.Lys158_Leu159delinsAsnPhe) GRCh37: Chr11:111965688-111965689 GRCh38: Chr11:112094964-112094965	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 203035632.	NM_003002.4(SDHD):c.315-12C>A GRCh37: Chr11:111965517 GRCh38: Chr11:112094793	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202431033.	NM_003002.4(SDHD):c.315-2A>T GRCh37: Chr11:111965527 GRCh38: Chr11:112094803	SDHD		Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 200546334.	NM_003002.4(SDHD):c.182C>T (p.Ala61Val) GRCh37: Chr11:111959603 GRCh38: Chr11:112088879	SDHD	A61V, A22V	Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 199656535.	NM_003002.4(SDHD):c.98C>A (p.Ala33Glu) GRCh37: Chr11:111958626 GRCh38: Chr11:112087902	SDHD	A33E	Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199649936.	NM_003002.4(SDHD):c.150C>G (p.His50Gln) GRCh37: Chr11:111958678 GRCh38: Chr11:112087954	SDHD	H50Q	Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 197109237.	NM_003002.4(SDHD):c.53-14G>A GRCh37: Chr11:111958567 GRCh38: Chr11:112087843	SDHD		Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 196757238.	NM_003002.4(SDHD):c.156_158del (p.Pro53del) GRCh37: Chr11:111958683-111958685 GRCh38: Chr11:112087959-112087961	SDHD	P53del	Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 196525639.	NM_003002.4(SDHD):c.377C>T (p.Ala126Val) GRCh37: Chr11:111965591 GRCh38: Chr11:112094867	SDHD	Q78*, A87V, A126V	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 196521040.	NM_003002.4(SDHD):c.204C>A (p.Ser68Arg) GRCh37: Chr11:111959625 GRCh38: Chr11:112088901	SDHD	S29R, S68R	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 196446741.	NM_003002.4(SDHD):c.272T>C (p.Met91Thr) GRCh37: Chr11:111959693 GRCh38: Chr11:112088969	SDHD	M52T, M91T	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 196101942.	NM_003002.4(SDHD):c.85G>A (p.Ala29Thr) GRCh37: Chr11:111958613 GRCh38: Chr11:112087889	SDHD	A29T	Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194899343.	NM_003002.4(SDHD):c.336T>C (p.Thr112=) GRCh37: Chr11:111965550 GRCh38: Chr11:112094826	SDHD	L64P	Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 192367044.	NM_003002.4(SDHD):c.65G>C (p.Arg22Pro) GRCh37: Chr11:111958593 GRCh38: Chr11:112087869	SDHD	R22P	Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 192336945.	NM_003002.4(SDHD):c.449G>C (p.Cys150Ser) GRCh37: Chr11:111965663 GRCh38: Chr11:112094939	SDHD	C111S, C150S	Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 191792446.	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 190091947.	NM_003002.4(SDHD):c.433C>T (p.His145Tyr) GRCh37: Chr11:111965647 GRCh38: Chr11:112094923	SDHD	H145Y, H106Y	Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 178706148.	NM_003002.4(SDHD):c.216C>T (p.Val72=) GRCh37: Chr11:111959637 GRCh38: Chr11:112088913	SDHD		Hereditary cancer-predisposing syndrome, Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss	Likely benign (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178037249.	NM_003002.4(SDHD):c.17G>A (p.Arg6Lys) GRCh37: Chr11:111957648 GRCh38: Chr11:112086924	LOC126861339, SDHD	R6K	Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176681950.	NM_003002.4(SDHD):c.93C>G (p.Ile31Met) GRCh37: Chr11:111958621 GRCh38: Chr11:112087897	SDHD	I31M	Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174603551.	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 (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174194652.	NM_003002.4(SDHD):c.461C>T (p.Ala154Val) GRCh37: Chr11:111965675 GRCh38: Chr11:112094951	SDHD	A154V, A115V	Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173955353.	NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del) GRCh37: Chr11:111965642-111965647 GRCh38: Chr11:112094918-112094923	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 171775654.	NM_003002.4(SDHD):c.337G>C (p.Asp113His) GRCh37: Chr11:111965551 GRCh38: Chr11:112094827	SDHD	D113H, D74H	Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171707055.	NM_003002.4(SDHD):c.170C>G (p.Ser57Cys) GRCh37: Chr11:111959591 GRCh38: Chr11:112088867	SDHD	A18G, S57C	Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171650256.	NM_003002.4(SDHD):c.232G>A (p.Gly78Ser) GRCh37: Chr11:111959653 GRCh38: Chr11:112088929	SDHD	G39S, G78S	Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 171416757.	NM_003002.4(SDHD):c.164A>G (p.His55Arg) GRCh37: Chr11:111958692 GRCh38: Chr11:112087968	SDHD	H55R	Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 166671258.	NM_003002.4(SDHD):c.177C>T (p.Ser59=) GRCh37: Chr11:111959598 GRCh38: Chr11:112088874	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Hereditary cancer-predisposing syndrome	Likely benign (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 166319359.	NM_003002.4(SDHD):c.246T>C (p.Ala82=) GRCh37: Chr11:111959667 GRCh38: Chr11:112088943	SDHD		Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome	Likely benign (Dec 19, 2020)	criteria provided, single submitter
Select item 165563260.	NM_003002.4(SDHD):c.466C>T (p.Leu156=) GRCh37: Chr11:111965680 GRCh38: Chr11:112094956	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 165478561.	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 165255462.	NM_003002.4(SDHD):c.315-14T>C GRCh37: Chr11:111965515 GRCh38: Chr11:112094791	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 164398963.	NM_003002.4(SDHD):c.170-19A>G GRCh37: Chr11:111959572 GRCh38: Chr11:112088848	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 164228564.	NM_003002.4(SDHD):c.348T>C (p.His116=) GRCh37: Chr11:111965562 GRCh38: Chr11:112094838	SDHD	M68T	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma	Likely benign (Oct 4, 2021)	criteria provided, single submitter
Select item 164144065.	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 164110066.	NM_003002.4(SDHD):c.450C>T (p.Cys150=) GRCh37: Chr11:111965664 GRCh38: Chr11:112094940	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome	Likely benign (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163874767.	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 163135668.	NM_003002.4(SDHD):c.170-18del GRCh37: Chr11:111959572 GRCh38: Chr11:112088848	SDHD		Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 163113069.	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 163064870.	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 162663871.	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 162662972.	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 161994673.	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 161457174.	NM_003002.4(SDHD):c.53-8_53-7del GRCh37: Chr11:111958572-111958573 GRCh38: Chr11:112087848-112087849	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 160914075.	NM_003002.4(SDHD):c.315-18T>A GRCh37: Chr11:111965511 GRCh38: Chr11:112094787	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 160850776.	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 160728777.	NM_003002.4(SDHD):c.223T>C (p.Leu75=) GRCh37: Chr11:111959644 GRCh38: Chr11:112088920	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 160105778.	NM_003002.4(SDHD):c.315-13dup GRCh37: Chr11:111965510-111965511 GRCh38: Chr11:112094786-112094787	SDHD		Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma	Benign (Apr 13, 2022)	criteria provided, single submitter
Select item 159478579.	NM_003002.4(SDHD):c.170-12T>C GRCh37: Chr11:111959579 GRCh38: Chr11:112088855	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 159230580.	NM_003002.4(SDHD):c.315-13del GRCh37: Chr11:111965511 GRCh38: Chr11:112094787	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Benign (Jul 23, 2021)	criteria provided, single submitter
Select item 158909881.	NM_003002.4(SDHD):c.195C>T (p.His65=) GRCh37: Chr11:111959616 GRCh38: Chr11:112088892	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 158847382.	NM_003002.4(SDHD):c.53-12C>G GRCh37: Chr11:111958569 GRCh38: Chr11:112087845	SDHD		Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 158833383.	NM_003002.4(SDHD):c.315-18T>G GRCh37: Chr11:111965511 GRCh38: Chr11:112094787	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 158816584.	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 158032485.	NM_003002.4(SDHD):c.170-14G>C GRCh37: Chr11:111959577 GRCh38: Chr11:112088853	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 157979286.	NM_003002.4(SDHD):c.315-4T>G GRCh37: Chr11:111965525 GRCh38: Chr11:112094801	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 157390587.	NM_003002.4(SDHD):c.363G>A (p.Gln121=) GRCh37: Chr11:111965577 GRCh38: Chr11:112094853	SDHD	R73K	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 156998988.	NM_003002.4(SDHD):c.314+12A>G GRCh37: Chr11:111959747 GRCh38: Chr11:112089023	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 156782889.	NM_003002.4(SDHD):c.53-12C>T GRCh37: Chr11:111958569 GRCh38: Chr11:112087845	SDHD		Cowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 156441290.	NM_003002.4(SDHD):c.170-11C>T GRCh37: Chr11:111959580 GRCh38: Chr11:112088856	SDHD		Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 156279991.	NM_003002.4(SDHD):c.170-18A>C GRCh37: Chr11:111959573 GRCh38: Chr11:112088849	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 155799292.	NM_003002.4(SDHD):c.138G>A (p.Val46=) GRCh37: Chr11:111958666 GRCh38: Chr11:112087942	SDHD		Hereditary cancer-predisposing syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155561693.	NM_003002.4(SDHD):c.170-20G>A GRCh37: Chr11:111959571 GRCh38: Chr11:112088847	SDHD		Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 155200994.	NM_003002.4(SDHD):c.170-13G>A GRCh37: Chr11:111959578 GRCh38: Chr11:112088854	SDHD		Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 154408795.	NM_003002.4(SDHD):c.318C>T (p.Gly106=) GRCh37: Chr11:111965532 GRCh38: Chr11:112094808	SDHD	A58V	Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma, Cowden syndrome 3	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 154036296.	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 153436797.	NM_003002.4(SDHD):c.270G>T (p.Ala90=) GRCh37: Chr11:111959691 GRCh38: Chr11:112088967	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 153406298.	NM_003002.4(SDHD):c.170-20G>T GRCh37: Chr11:111959571 GRCh38: Chr11:112088847	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 153320399.	NM_003002.4(SDHD):c.53-17A>G GRCh37: Chr11:111958564 GRCh38: Chr11:112087840	SDHD		Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 1520608100.	NM_003002.4(SDHD):c.299C>T (p.Thr100Ile) GRCh37: Chr11:111959720 GRCh38: Chr11:112088996	SDHD	T100I, T61I	Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter

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