ClinVar for MedGen (Select 18780) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6914671.	NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile) GRCh37: ChrX:48460251 GRCh38: ChrX:48601863	WDR13	T212I, T304I	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914572.	NM_198253.3(TERT):c.1185G>T (p.Glu395Asp) GRCh37: Chr5:1293816 GRCh38: Chr5:1293701	TERT	E395D	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914523.	NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) GRCh37: Chr9:139393614 GRCh38: Chr9:136499162	LOC126860794, NOTCH1	L2011P	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914504.	NM_153006.3(NAGS):c.1378C>G (p.Leu460Val) GRCh37: Chr17:42085068 GRCh38: Chr17:44007700	NAGS	L460V	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914475.	NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) GRCh37: ChrX:107169483 GRCh38: ChrX:107926253	LOC101928335, MID2	I556T, I586T	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914326.	NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) GRCh37: Chr21:41427708 GRCh38: Chr21:40055781	DSCAM	I1660N	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914317.	NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys) GRCh37: Chr5:31526717 GRCh38: Chr5:31526610	DROSHA	R108K	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914258.	NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser) GRCh37: Chr16:81726786 GRCh38: Chr16:81693181	CMIP	T399S, T493S	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 6914199.	NM_001256.6(CDC27):c.4A>G (p.Thr2Ala) GRCh37: Chr17:45266535 GRCh38: Chr17:47189169	CDC27	T2A	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69141610.	NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) GRCh37: Chr12:2795412 GRCh38: Chr12:2686246	CACNA1C, CACNA1C-AS1	P1910S, P1918S, P1921S, P1927S, P1929S, P1938S, P1940S, P1941S, P1949S, P1956S, P1962S, P1969S, P1981S, P2004S	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69141511.	NM_207322.3(C2CD4A):c.284A>C (p.His95Pro) GRCh37: Chr15:62360096 GRCh38: Chr15:62067897	C2CD4A	H95P	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69141412.	NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln) GRCh37: Chr17:40647077 GRCh38: Chr17:42495059	ATP6V0A1	R447Q, R454Q, R376Q, R377Q, R387Q, R394Q, R404Q, R411Q, R488Q, R495Q	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69141213.	NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile) GRCh37: Chr19:42480684 GRCh38: Chr19:41976532	ATP1A3	L660I, L671I, L673I	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69138714.	NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met) GRCh37: Chr5:167643859 GRCh38: Chr5:168216854	TENM2	L1150M, L1228M, L1230M, L1380M, L1389M	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69138615.	NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr) GRCh37: Chr17:40456569 GRCh38: Chr17:42304551	STAT5A	A397T, A427T	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69138116.	NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly) GRCh37: Chr11:65408759 GRCh38: Chr11:65641288	SIPA1	S123G	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69137417.	NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp) GRCh37: ChrX:38164042 GRCh38: ChrX:38304789	RPGR	E259D, E260D, E270D	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69136918.	NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile) GRCh37: Chr5:57752879 GRCh38: Chr5:58457052	LOC126807401, PLK2	T336I, T350I	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69136719.	NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His) GRCh37: Chr5:58285695 GRCh38: Chr5:58989868	PDE4D	Y145H, Y156H, Y191H, Y223H, Y311H, Y317H, Y325H, Y337H, Y376H, Y383H, Y386H, Y447H	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69136420.	NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly) GRCh37: Chr12:4919440 GRCh38: Chr12:4810274	KCNA6	D78G	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69135921.	NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter) GRCh37: Chr10:33197375 GRCh38: Chr10:32908447	ITGB1	W751*	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69135722.	NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) GRCh37: Chr19:7122895 GRCh38: Chr19:7122884	INSR	A1110T, A1122T	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69135523.	NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) GRCh37: Chr1:117142751 GRCh38: Chr1:116600129	IGSF3	R614L, R634L	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69134924.	NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser) GRCh37: Chr5:161520881 GRCh38: Chr5:162093875	GABRG2	N52S, N23S, N49S, N30S	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69134725.	NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) GRCh37: Chr6:82461833 GRCh38: Chr6:81752116	TENT5A	A9G	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69134626.	NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg) GRCh37: Chr6:82461794 GRCh38: Chr6:81752077	TENT5A	P22R	Pyloric stenosis, Esophageal atresia	Likely pathogenic (May 22, 2019)	no assertion criteria provided
Select item 69134527.	NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) GRCh37: Chr6:82461795 GRCh38: Chr6:81752078	TENT5A	P22A	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69134428.	NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter) GRCh37: Chr6:56462740 GRCh38: Chr6:56597942	DST	S1375, S1701, S1741, S1879, S3787, S3998, S4007*	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 69134029.	NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val) GRCh37: Chr11:46567274 GRCh38: Chr11:46545724	AMBRA1	A144V	Pyloric stenosis, Esophageal atresia	Uncertain significance (May 22, 2019)	no assertion criteria provided
Select item 68203230.	NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup) GRCh37: Chr1:154842199-154842200 GRCh38: Chr1:154869723-154869724	KCNN3		not specified, not provided	Benign/Likely benign (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63868831.	NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) GRCh37: Chr5:71494550 GRCh38: Chr5:72198723	MAP1B	R1790, R1664	Periventricular nodular heterotopia 9	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 52352232.	NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) GRCh37: Chr8:61734614 GRCh38: Chr8:60822055	CHD7	S956*	Choanal atresia, Abnormal facial shape, Pyloric stenosis, Atrial septal defect	Likely pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 46895833.	NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) GRCh37: Chr18:53070717 GRCh38: Chr18:55403486	TCF4	G113R, G43R, G71R, G215R, G111R, G89R	Pitt-Hopkins syndrome	Likely benign (Feb 22, 2020)	criteria provided, single submitter
Select item 26786434.	46;XY;t(2;13)(p25.2;q31.3)dn			Plagiocephaly, Vesicoureteral reflux, Ventricular septal defect, Megacolon, Penile hypospadias, Pyloric stenosis, Global developmental delay	Uncertain significance (Aug 20, 2016)	criteria provided, single submitter

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Items: 34