ClinVar for Gene (Select 7044) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290439	NM_003240.5(LEFTY2):c.908C>T (p.Ala303Val)	LEFTY2 (A269V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290438	NM_003240.5(LEFTY2):c.926C>G (p.Pro309Arg)	LEFTY2 (P275R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3118318	NM_003240.5(LEFTY2):c.56G>C (p.Gly19Ala)	LEFTY2 (G19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118317	NM_003240.5(LEFTY2):c.1075C>T (p.Leu359Phe)	LEFTY2 (L325F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118316	NM_003240.5(LEFTY2):c.1064C>T (p.Ser355Leu)	LEFTY2 (S321L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031603	NM_003240.5(LEFTY2):c.492C>T (p.Asp164=)	LEFTY2	Single nucleotide variant (synonymous variant)	LEFTY2-related disorder	GLikely benign
Select item 3024022	NM_003240.5(LEFTY2):c.1041G>T (p.Arg347Ser)	LEFTY2 (R313S +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 3020612	NM_003240.5(LEFTY2):c.788G>A (p.Cys263Tyr)	LEFTY2 (C263Y +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 3018675	NM_003240.5(LEFTY2):c.73G>A (p.Glu25Lys)	LEFTY2 (E25K)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 3012710	NM_003240.5(LEFTY2):c.197G>T (p.Arg66Leu)	LEFTY2 (R66L)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2958178	NM_003240.5(LEFTY2):c.877T>G (p.Cys293Gly)	LEFTY2 (C293G +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2911130	NM_003240.5(LEFTY2):c.770T>C (p.Met257Thr)	LEFTY2 (M257T +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2904252	NM_003240.5(LEFTY2):c.879T>A (p.Cys293Ter)	LEFTY2 (C259* +1 more)	Single nucleotide variant (nonsense)	Left-right axis malformations	GUncertain significance
Select item 2900481	NM_003240.5(LEFTY2):c.498-17T>C	LEFTY2	Single nucleotide variant (intron variant)	Left-right axis malformations	GLikely benign
Select item 2886548	NM_003240.5(LEFTY2):c.199C>T (p.Arg67Cys)	LEFTY2 (R67C)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2885283	NM_003240.5(LEFTY2):c.1047G>T (p.Gln349His)	LEFTY2 (Q315H +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2882097	NM_003240.5(LEFTY2):c.348C>G (p.Ala116=)	LEFTY2	Single nucleotide variant (synonymous variant +1 more)	Left-right axis malformations	GLikely benign
Select item 2880373	NM_003240.5(LEFTY2):c.303C>T (p.Phe101=)	LEFTY2	Single nucleotide variant (synonymous variant +1 more)	Left-right axis malformations	GLikely benign
Select item 2866576	NM_003240.5(LEFTY2):c.957G>A (p.Ser319=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 2854499	NM_003240.5(LEFTY2):c.303C>G (p.Phe101Leu)	LEFTY2 (F101L)	Single nucleotide variant (missense variant +1 more)	Left-right axis malformations	GUncertain significance
Select item 2821881	NM_003240.5(LEFTY2):c.443A>G (p.Glu148Gly)	LEFTY2 (E114G +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2804558	NM_003240.5(LEFTY2):c.571A>T (p.Ser191Cys)	LEFTY2 (S157C +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations +1 more	GUncertain significance
Select item 2783058	NM_003240.5(LEFTY2):c.773C>T (p.Thr258Ile)	LEFTY2 (T224I +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2737559	NM_003240.5(LEFTY2):c.498-19C>G	LEFTY2	Single nucleotide variant (intron variant)	Left-right axis malformations	GLikely benign
Select item 2727513	NM_003240.5(LEFTY2):c.463G>T (p.Asp155Tyr)	LEFTY2 (D121Y +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2720863	NM_003240.5(LEFTY2):c.484C>T (p.Leu162Phe)	LEFTY2 (L128F +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2693020	NM_003240.5(LEFTY2):c.747C>T (p.Gly249=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations +1 more	GLikely benign
Select item 2689367	NM_003240.5(LEFTY2):c.754G>A (p.Asp252Asn)	LEFTY2 (D218N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636149	NM_003240.5(LEFTY2):c.247C>G (p.Arg83Gly)	LEFTY2 (R83G)	Single nucleotide variant (missense variant)	LEFTY2-related disorder	GUncertain significance
Select item 2632394	NM_003240.5(LEFTY2):c.118G>T (p.Val40Leu)	LEFTY2 (V40L)	Single nucleotide variant (missense variant)	LEFTY2-related disorder	GUncertain significance
Select item 2540580	NM_003240.5(LEFTY2):c.89G>T (p.Ser30Ile)	LEFTY2 (S30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493502	NM_003240.5(LEFTY2):c.420C>G (p.Ser140Arg)	LEFTY2 (S140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473702	NM_003240.5(LEFTY2):c.487A>C (p.Ile163Leu)	LEFTY2 (I163L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424661	NC_000001.10:g.(?_226125141)_(226128840_?)dup	LEFTY2	Duplication	Left-right axis malformations	GUncertain significance
Select item 2370346	NM_003240.5(LEFTY2):c.968C>T (p.Ser323Leu)	LEFTY2 (S289L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283488	NM_003240.5(LEFTY2):c.714C>A (p.His238Gln)	LEFTY2 (H204Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280732	NM_003240.5(LEFTY2):c.59C>T (p.Ala20Val)	LEFTY2 (A20V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266562	NM_003240.5(LEFTY2):c.97C>T (p.Arg33Trp)	LEFTY2 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2194100	NM_003240.5(LEFTY2):c.163G>A (p.Ala55Thr)	LEFTY2 (A55T)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2177733	NM_003240.5(LEFTY2):c.902C>T (p.Pro301Leu)	LEFTY2 (P301L +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2166197	NM_003240.5(LEFTY2):c.556T>G (p.Phe186Val)	LEFTY2 (F186V +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2159485	NM_003240.5(LEFTY2):c.357G>T (p.Arg119=)	LEFTY2	Single nucleotide variant (synonymous variant +1 more)	Left-right axis malformations	GUncertain significance
Select item 2159484	NM_003240.5(LEFTY2):c.486C>T (p.Leu162=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 2142316	NM_003240.5(LEFTY2):c.738-18C>T	LEFTY2	Single nucleotide variant (intron variant)	Left-right axis malformations	GLikely benign
Select item 2077806	NM_003240.5(LEFTY2):c.497+14_497+15insGTCGCGG	LEFTY2	Insertion (intron variant)	Left-right axis malformations	GLikely benign
Select item 2067527	NM_003240.5(LEFTY2):c.760G>A (p.Glu254Lys)	LEFTY2 (E220K +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2054941	NM_003240.5(LEFTY2):c.969G>A (p.Ser323=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 2047479	NM_003240.5(LEFTY2):c.300G>A (p.Val100=)	LEFTY2	Single nucleotide variant (synonymous variant +1 more)	Left-right axis malformations	GLikely benign
Select item 2037768	NM_003240.5(LEFTY2):c.791G>A (p.Cys264Tyr)	LEFTY2 (C230Y +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 2012309	NM_003240.5(LEFTY2):c.628C>T (p.Pro210Ser)	LEFTY2 (P210S +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations +1 more	GUncertain significance
Select item 1948630	NM_003240.5(LEFTY2):c.168C>T (p.His56=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1721180	NM_003240.5(LEFTY2):c.724_725delinsTC (p.Leu242Ser)	LEFTY2 (L208S +1 more)	Indel (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1718586	NM_003240.5(LEFTY2):c.887C>T (p.Thr296Ile)	LEFTY2 (T262I +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1670148	NM_003240.5(LEFTY2):c.138C>G (p.Ala46=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1547034	NM_003240.5(LEFTY2):c.631C>T (p.Leu211=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1543242	NM_003240.5(LEFTY2):c.453C>T (p.Arg151=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1486073	NM_003240.5(LEFTY2):c.997G>A (p.Gly333Arg)	LEFTY2 (G333R +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	MIXL1, TMEM63A +16 more	Duplication	not provided	GUncertain significance
Select item 1409735	NM_003240.5(LEFTY2):c.356G>A (p.Arg119Gln)	LEFTY2 (R119Q)	Single nucleotide variant (missense variant +1 more)	Left-right axis malformations	GUncertain significance
Select item 1407801	NM_003240.5(LEFTY2):c.994G>A (p.Glu332Lys)	LEFTY2 (E298K +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1401613	NM_003240.5(LEFTY2):c.775G>A (p.Glu259Lys)	LEFTY2 (E225K +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1361607	NM_003240.5(LEFTY2):c.200G>A (p.Arg67His)	LEFTY2 (R67H)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1345763	NM_003240.5(LEFTY2):c.737G>C (p.Gly246Ala)	LEFTY2 (G212A +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1328492	NM_003240.5(LEFTY2):c.223G>A (p.Gly75Arg)	LEFTY2 (G75R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1286216	NM_003240.5(LEFTY2):c.250+27C>T	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283493	NM_003240.5(LEFTY2):c.738-235del	LEFTY2	Deletion (intron variant)	not provided	GBenign
Select item 1280701	NM_003240.5(LEFTY2):c.738-113T>C	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271943	NM_003240.5(LEFTY2):c.738-40dup	LEFTY2	Duplication (intron variant)	not provided	GBenign
Select item 1250630	NM_003240.5(LEFTY2):c.250+221del	LEFTY2	Deletion (intron variant)	not provided	GBenign
Select item 1246702	NM_003240.5(LEFTY2):c.737+333G>A	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224213	NM_003240.5(LEFTY2):c.251-44G>C	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168973	NM_003240.5(LEFTY2):c.60G>A (p.Ala20=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GBenign
Select item 1161319	NM_003240.5(LEFTY2):c.828G>A (p.Lys276=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1141695	NM_003240.5(LEFTY2):c.372G>C (p.Pro124=)	LEFTY2	Single nucleotide variant (synonymous variant +1 more)	Left-right axis malformations	GLikely benign
Select item 1134996	NM_003240.5(LEFTY2):c.513C>T (p.His171=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1129835	NM_003240.5(LEFTY2):c.621T>C (p.His207=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1111805	NM_003240.5(LEFTY2):c.858G>A (p.Pro286=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1109795	NM_003240.5(LEFTY2):c.81C>T (p.Leu27=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GLikely benign
Select item 1051954	NM_003240.5(LEFTY2):c.850G>A (p.Glu284Lys)	LEFTY2 (E250K +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1050970	NM_003240.5(LEFTY2):c.580del (p.Arg194fs)	LEFTY2 (R160fs +1 more)	Deletion (frameshift variant)	Left-right axis malformations	GUncertain significance
Select item 1044618	NM_003240.5(LEFTY2):c.124G>A (p.Val42Ile)	LEFTY2 (V42I)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1038741	NM_003240.5(LEFTY2):c.400G>A (p.Gly134Arg)	LEFTY2 (G100R +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1020059	NC_000001.10:g.(?_226125121)_(226128860_?)dup	LEFTY2	Duplication	Left-right axis malformations	GUncertain significance
Select item 1017089	NM_003240.5(LEFTY2):c.790T>C (p.Cys264Arg)	LEFTY2 (C230R +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 1005254	NM_003240.5(LEFTY2):c.598C>G (p.Gln200Glu)	LEFTY2 (Q166E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 955443	NM_003240.5(LEFTY2):c.389T>G (p.Leu130Arg)	LEFTY2 (L130R +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations +1 more	GUncertain significance
Select item 936848	NM_003240.5(LEFTY2):c.890G>A (p.Cys297Tyr)	LEFTY2 (C263Y +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 935721	NM_003240.5(LEFTY2):c.530C>T (p.Ala177Val)	LEFTY2 (A177V +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 876349	NM_003240.5(LEFTY2):c.-2C>T	LEFTY2	Single nucleotide variant (5 prime UTR variant)	Left-right axis malformations	GUncertain significance
Select item 876348	NM_003240.5(LEFTY2):c.75G>A (p.Glu25=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations	GUncertain significance
Select item 876304	NM_003240.5(LEFTY2):c.*36G>A	LEFTY2	Single nucleotide variant (3 prime UTR variant)	Left-right axis malformations	GUncertain significance

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