ClinVar for MedGen (Select 18419) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 2215

<< First< Prev

Page of 23

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 24245984.	NC_000001.10:g.(?_17359545)_(17359650_?)dup GRCh37: Chr1:17359545-17359650	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 24245975.	NC_000001.10:g.(?_17371256)_(17371383_?)dup GRCh37: Chr1:17371256-17371383	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 24245966.	NC_000001.10:g.(?_17359545)_(17380514_?)del GRCh37: Chr1:17359545-17380514	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 24245957.	NC_000001.10:g.(?_17371246)_(17380514_?)del GRCh37: Chr1:17371246-17380514	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 24245948.	NC_000001.10:g.(?_17354234)_(17354370_?)del GRCh37: Chr1:17354234-17354370	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 24210419.	NM_003000.3(SDHB):c.766-11C>G GRCh37: Chr1:17345464 GRCh38: Chr1:17018969	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 241491210.	NM_003000.3(SDHB):c.675C>T (p.Asp225=) GRCh37: Chr1:17349193 GRCh38: Chr1:17022698	SDHB		Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 220270811.	NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr) GRCh37: Chr1:17350544 GRCh38: Chr1:17024049	SDHB	C171Y, C189Y	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 220151612.	NM_003000.3(SDHB):c.541-14T>C GRCh37: Chr1:17350583 GRCh38: Chr1:17024088	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 219414813.	NM_003000.3(SDHB):c.643-16A>G GRCh37: Chr1:17349241 GRCh38: Chr1:17022746	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 218467314.	NM_003000.3(SDHB):c.642+8G>A GRCh37: Chr1:17350460 GRCh38: Chr1:17023965	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 218338515.	NM_003000.3(SDHB):c.766-21_766-19del GRCh37: Chr1:17345472-17345474 GRCh38: Chr1:17018977-17018979	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 217820316.	NM_003000.3(SDHB):c.72+13G>T GRCh37: Chr1:17380430 GRCh38: Chr1:17053935	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 217096617.	NM_003000.3(SDHB):c.541-17C>G GRCh37: Chr1:17350586 GRCh38: Chr1:17024091	SDHB		Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 215983218.	NM_003000.3(SDHB):c.424-9T>G GRCh37: Chr1:17354369 GRCh38: Chr1:17027874	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 215470319.	NM_003000.3(SDHB):c.643-15T>C GRCh37: Chr1:17349240 GRCh38: Chr1:17022745	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 215160320.	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 215102521.	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 214518522.	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 214472523.	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 214432424.	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 214257925.	NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val) GRCh37: Chr1:17380497-17380498 GRCh38: Chr1:17054002-17054003	SDHB	A6V	Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 214141826.	NM_003000.3(SDHB):c.642+9C>T GRCh37: Chr1:17350459 GRCh38: Chr1:17023964	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 213977427.	NM_003000.3(SDHB):c.28A>G (p.Arg10Gly) GRCh37: Chr1:17380487 GRCh38: Chr1:17053992	SDHB	R10G	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 213950428.	NM_003000.3(SDHB):c.201-20T>C GRCh37: Chr1:17359660 GRCh38: Chr1:17033165	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 213532429.	NM_003000.3(SDHB):c.25T>A (p.Leu9Met) GRCh37: Chr1:17380490 GRCh38: Chr1:17053995	SDHB	L9M	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213513030.	NM_003000.3(SDHB):c.832G>C (p.Ala278Pro) GRCh37: Chr1:17345387 GRCh38: Chr1:17018892	SDHB	A260P, A278P	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213493731.	NM_003000.3(SDHB):c.341C>T (p.Thr114Ile) GRCh37: Chr1:17355177 GRCh38: Chr1:17028682	SDHB	T114I	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213404332.	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 213402633.	NM_003000.3(SDHB):c.287-9C>T GRCh37: Chr1:17355240 GRCh38: Chr1:17028745	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 213331834.	NM_003000.3(SDHB):c.699G>A (p.Lys233=) GRCh37: Chr1:17349169 GRCh38: Chr1:17022674	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213296735.	NM_003000.3(SDHB):c.69G>C (p.Leu23=) GRCh37: Chr1:17380446 GRCh38: Chr1:17053951	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 213187436.	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 213160437.	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 212776938.	NM_003000.3(SDHB):c.591C>T (p.Pro197=) GRCh37: Chr1:17350519 GRCh38: Chr1:17024024	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212745139.	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 212619840.	NM_003000.3(SDHB):c.508T>C (p.Tyr170His) GRCh37: Chr1:17354276 GRCh38: Chr1:17027781	SDHB	Y170H, Y152H	Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212612441.	NM_003000.3(SDHB):c.124T>C (p.Phe42Leu) GRCh37: Chr1:17371332 GRCh38: Chr1:17044837	SDHB	F42L	Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212570942.	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 212309943.	NM_003000.3(SDHB):c.733A>G (p.Thr245Ala) GRCh37: Chr1:17349135 GRCh38: Chr1:17022640	SDHB	T227A, T245A	Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4	Uncertain significance (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212126244.	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 211928445.	NM_003000.3(SDHB):c.50C>G (p.Thr17Ser) GRCh37: Chr1:17380465 GRCh38: Chr1:17053970	SDHB	T17S	Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211922346.	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 211854147.	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 211839648.	NM_003000.3(SDHB):c.239A>G (p.Lys80Arg) GRCh37: Chr1:17359602 GRCh38: Chr1:17033107	SDHB	K80R	Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 211741749.	NM_003000.3(SDHB):c.347G>A (p.Arg116Lys) GRCh37: Chr1:17355171 GRCh38: Chr1:17028676	SDHB	R116K	Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211203450.	NM_003000.3(SDHB):c.331C>T (p.Leu111=) GRCh37: Chr1:17355187 GRCh38: Chr1:17028692	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210982551.	NM_003000.3(SDHB):c.423C>A (p.Pro141=) GRCh37: Chr1:17355095 GRCh38: Chr1:17028600	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210446352.	NM_003000.3(SDHB):c.16G>C (p.Ala6Pro) GRCh37: Chr1:17380499 GRCh38: Chr1:17054004	SDHB	A6P	Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210227753.	NM_003000.3(SDHB):c.61G>T (p.Ala21Ser) GRCh37: Chr1:17380454 GRCh38: Chr1:17053959	SDHB	A21S	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 210093354.	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 210054655.	NM_003000.3(SDHB):c.286+9T>G GRCh37: Chr1:17359546 GRCh38: Chr1:17033051	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 210028056.	NM_003000.3(SDHB):c.424-10T>G GRCh37: Chr1:17354370 GRCh38: Chr1:17027875	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 209922857.	NM_003000.3(SDHB):c.485A>G (p.Glu162Gly) GRCh37: Chr1:17354299 GRCh38: Chr1:17027804	SDHB	E162G, E144G	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209741258.	NM_003000.3(SDHB):c.540+3C>T GRCh37: Chr1:17354241 GRCh38: Chr1:17027746	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 209592359.	NM_003000.3(SDHB):c.642+20C>G GRCh37: Chr1:17350448 GRCh38: Chr1:17023953	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209509160.	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 209444161.	NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del) GRCh37: Chr1:17380468-17380497 GRCh38: Chr1:17053973-17054002	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209349562.	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 209299863.	NM_003000.3(SDHB):c.424-13del GRCh37: Chr1:17354373 GRCh38: Chr1:17027878	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209245464.	NM_003000.3(SDHB):c.477G>C (p.Lys159Asn) GRCh37: Chr1:17354307 GRCh38: Chr1:17027812	SDHB	K141N, K159N	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 209196065.	NM_003000.3(SDHB):c.439T>C (p.Tyr147His) GRCh37: Chr1:17354345 GRCh38: Chr1:17027850	SDHB	Y129H, Y147H	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 209068866.	NM_003000.3(SDHB):c.424-13C>G GRCh37: Chr1:17354373 GRCh38: Chr1:17027878	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 209012767.	NM_003000.3(SDHB):c.134_138dup (p.Trp47fs) GRCh37: Chr1:17371317-17371318 GRCh38: Chr1:17044822-17044823	SDHB	W47fs	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 208990068.	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 208878769.	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 208817770.	NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser) GRCh37: Chr1:17355135 GRCh38: Chr1:17028640	SDHB	Y128S	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 208721871.	NM_003000.3(SDHB):c.423+13A>G GRCh37: Chr1:17355082 GRCh38: Chr1:17028587	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 208641272.	NM_003000.3(SDHB):c.219G>C (p.Leu73Phe) GRCh37: Chr1:17359622 GRCh38: Chr1:17033127	SDHB	L73F	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208423073.	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 208297374.	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 207722075.	NM_003000.3(SDHB):c.115A>G (p.Ile39Val) GRCh37: Chr1:17371341 GRCh38: Chr1:17044846	SDHB	I39V	Inborn genetic diseases, Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206330776.	NM_003000.3(SDHB):c.287-13G>A GRCh37: Chr1:17355244 GRCh38: Chr1:17028749	SDHB		Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 206066977.	NM_003000.3(SDHB):c.349A>G (p.Ile117Val) GRCh37: Chr1:17355169 GRCh38: Chr1:17028674	SDHB	I117V	Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 206052178.	NM_003000.3(SDHB):c.540+11C>G GRCh37: Chr1:17354233 GRCh38: Chr1:17027738	SDHB		Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 205926679.	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 205027480.	NM_003000.3(SDHB):c.540+16T>C GRCh37: Chr1:17354228 GRCh38: Chr1:17027733	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 205009381.	NM_003000.3(SDHB):c.320G>A (p.Gly107Glu) GRCh37: Chr1:17355198 GRCh38: Chr1:17028703	SDHB	G107E	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 204932882.	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 204504283.	NM_003000.3(SDHB):c.363C>T (p.Leu121=) GRCh37: Chr1:17355155 GRCh38: Chr1:17028660	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204192184.	NM_003000.3(SDHB):c.765+9G>T GRCh37: Chr1:17349094 GRCh38: Chr1:17022599	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 204103585.	NM_003000.3(SDHB):c.424-16T>C GRCh37: Chr1:17354376 GRCh38: Chr1:17027881	SDHB		Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 203751986.	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 203641387.	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 203526588.	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 203519689.	NM_003000.3(SDHB):c.537A>G (p.Lys179=) GRCh37: Chr1:17354247 GRCh38: Chr1:17027752	SDHB		Hereditary cancer-predisposing syndrome, Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor	Conflicting interpretations of pathogenicity (Feb 12, 2023)	criteria provided, conflicting interpretations
Select item 203482990.	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 203330091.	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 203264892.	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 203235793.	NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer) GRCh37: Chr1:17349201-17349202 GRCh38: Chr1:17022706-17022707	SDHB		Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 203116394.	NM_003000.3(SDHB):c.127G>A (p.Ala43Thr) GRCh37: Chr1:17371329 GRCh38: Chr1:17044834	SDHB	A43T	Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 203035695.	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 202832096.	NM_003000.3(SDHB):c.657G>T (p.Met219Ile) GRCh37: Chr1:17349211 GRCh38: Chr1:17022716	SDHB	M201I, M219I	Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 202744797.	NM_003000.3(SDHB):c.643-9G>A GRCh37: Chr1:17349234 GRCh38: Chr1:17022739	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 202703098.	NM_003000.3(SDHB):c.765+16G>T GRCh37: Chr1:17349087 GRCh38: Chr1:17022592	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 202701199.	NM_003000.3(SDHB):c.200+11C>T GRCh37: Chr1:17371245 GRCh38: Chr1:17044750	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 2027010100.	NM_003000.3(SDHB):c.200+18A>T GRCh37: Chr1:17371238 GRCh38: Chr1:17044743	SDHB		Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma	Likely benign (Sep 14, 2022)	criteria provided, single submitter

<< First< Prev

Page of 23