2780[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 242

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 875594	NM_001377295.2(GNAT2):c.*102C>A	GNAT2	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 4	GUncertain significance
Select item 875595	NM_001377295.2(GNAT2):c.*50G>C	GNAT2	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 4	GUncertain significance
Select item 2114289	NM_001377295.2(GNAT2):c.1058T>C (p.Leu353Pro)	GNAT2 (L353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942299	NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe)	GNAT2 (L353F)	Single nucleotide variant (missense variant)	Achromatopsia 4 +2 more	GUncertain significance
Select item 1627359	NM_001377295.2(GNAT2):c.1053C>T (p.Cys351=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1052232	NM_001377295.2(GNAT2):c.1035A>C (p.Lys345Asn)	GNAT2 (K345N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058578	NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr)	GNAT2 (I344T)	Single nucleotide variant (missense variant)	Achromatopsia 4 +2 more	GUncertain significance
Select item 1026175	NM_001377295.2(GNAT2):c.1025T>C (p.Ile342Thr)	GNAT2 (I342T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806183	NM_001377295.2(GNAT2):c.998A>T (p.Lys333Ile)	GNAT2 (K333I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908443	NM_001377295.2(GNAT2):c.970A>G (p.Thr324Ala)	GNAT2 (T324A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100573	NM_001377295.2(GNAT2):c.967A>G (p.Met323Val)	GNAT2 (M323V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 938685	NM_001377295.2(GNAT2):c.966C>G (p.His322Gln)	GNAT2 (H322Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623287	NM_001377295.2(GNAT2):c.955del (p.Ile319fs)	GNAT2 (I319fs)	Deletion (frameshift variant)	Achromatopsia 4	GPathogenic
Select item 1403882	NM_001377295.2(GNAT2):c.949A>G (p.Lys317Glu)	GNAT2 (K317E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623286	NM_001377295.2(GNAT2):c.943G>A (p.Asp315Asn)	GNAT2 (D315N)	Single nucleotide variant (missense variant)	Achromatopsia 4	GUncertain significance
Select item 1919255	NM_001377295.2(GNAT2):c.938G>A (p.Arg313Gln)	GNAT2 (R313Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623285	NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)	GNAT2 (R313*)	Single nucleotide variant (nonsense)	Achromatopsia 4 +1 more	GPathogenic
Select item 198818	NM_001377295.2(GNAT2):c.933T>C (p.Asn311=)	GNAT2	Single nucleotide variant (synonymous variant)	Achromatopsia 4 +2 more	GConflicting classifications of pathogenicity
Select item 1469900	NM_001377295.2(GNAT2):c.932A>G (p.Asn311Ser)	GNAT2 (N311S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954303	NM_001377295.2(GNAT2):c.931A>G (p.Asn311Asp)	GNAT2 (N311D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291718	NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe)	GNAT2 (L310F)	Single nucleotide variant (missense variant)	Achromatopsia 4 +1 more	GConflicting classifications of pathogenicity
Select item 1714556	NM_001377295.2(GNAT2):c.922C>G (p.Leu308Val)	GNAT2 (L308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 859230	NM_001377295.2(GNAT2):c.909A>G (p.Ile303Met)	GNAT2 (I303M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438058	NM_001377295.2(GNAT2):c.906C>A (p.Tyr302Ter)	GNAT2 (Y302*)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 1143554	NM_001377295.2(GNAT2):c.900G>C (p.Gly300=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 938101	NM_001377295.2(GNAT2):c.897G>A (p.Ala299=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151892	NM_001377295.2(GNAT2):c.896C>A (p.Ala299Glu)	GNAT2 (A299E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049934	NM_001377295.2(GNAT2):c.896C>T (p.Ala299Val)	GNAT2 (A299V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519280	NM_001377295.2(GNAT2):c.887ATG[2] (p.Asp298del)	GNAT2 (D298del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1580001	NM_001377295.2(GNAT2):c.888T>C (p.Tyr296=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1019487	NM_001377295.2(GNAT2):c.887A>G (p.Tyr296Cys)	GNAT2 (Y296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623284	NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His)	GNAT2 (Y296H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2413242	NM_001377295.2(GNAT2):c.877A>G (p.Asn293Asp)	GNAT2 (N293D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097481	NM_001377295.2(GNAT2):c.875G>A (p.Gly292Asp)	GNAT2 (G292D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038106	NM_001377295.2(GNAT2):c.875-4C>A	GNAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643329	NM_001377295.2(GNAT2):c.875-15T>A	GNAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1103891	NM_001377295.2(GNAT2):c.874+12G>A	GNAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3220872	NM_001377295.2(GNAT2):c.874+1G>T	GNAI3, GNAT2 +1 more	Single nucleotide variant (splice donor variant)	Achromatopsia 4	GLikely pathogenic
Select item 1015276	NM_001377295.2(GNAT2):c.874G>A (p.Gly292Ser)	GNAT2 (G292S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992412	NM_001377295.2(GNAT2):c.870T>C (p.Tyr290=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876588	NM_001377295.2(GNAT2):c.845A>C (p.His282Pro)	GNAT2 (H282P)	Single nucleotide variant (missense variant)	Achromatopsia 4 +1 more	GUncertain significance
Select item 15923	NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs)	GNAT2 (H282fs)	Insertion (frameshift variant)	Achromatopsia 4	GPathogenic
Select item 2417882	NM_001377295.2(GNAT2):c.838A>G (p.Lys280Glu)	GNAT2 (K280E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413802	NM_001377295.2(GNAT2):c.834C>G (p.Ile278Met)	GNAT2 (I278M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446938	NM_001377295.2(GNAT2):c.826del (p.Glu276fs)	GNAT2 (E276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2196950	NM_001377295.2(GNAT2):c.825G>A (p.Glu275=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065503	NM_001377295.2(GNAT2):c.821_822del (p.Leu273_Phe274insTer)	GNAT2	Deletion (nonsense)	not provided	GPathogenic
Select item 1511744	NM_001377295.2(GNAT2):c.821T>C (p.Phe274Ser)	GNAT2 (F274S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 941593	NM_001377295.2(GNAT2):c.818T>A (p.Leu273His)	GNAT2 (L273H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1040639	NM_001377295.2(GNAT2):c.815A>T (p.Asp272Val)	GNAT2 (D272V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623283	NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del)	GNAT2 (K271del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 623282	NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs)	GNAT2 (K270fs)	Duplication (frameshift variant)	Achromatopsia 4	GPathogenic
Select item 1051932	NM_001377295.2(GNAT2):c.806A>T (p.Asn269Ile)	GNAT2 (N269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041923	NM_001377295.2(GNAT2):c.797T>C (p.Leu266Pro)	GNAT2 (L266P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380577	NM_001377295.2(GNAT2):c.781G>A (p.Ala261Thr)	GNAT2 (A261T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151761	NM_001377295.2(GNAT2):c.779C>T (p.Ala260Val)	GNAT2 (A260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053457	NM_001377295.2(GNAT2):c.778G>T (p.Ala260Ser)	GNAT2 (A260S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148369	NM_001377295.2(GNAT2):c.777T>C (p.Phe259=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005350	NM_001377295.2(GNAT2):c.762T>C (p.Cys254=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2086465	NM_001377295.2(GNAT2):c.744T>C (p.His248=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1042247	NM_001377295.2(GNAT2):c.742C>A (p.His248Asn)	GNAT2 (H248N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037942	NM_001377295.2(GNAT2):c.733G>A (p.Glu245Lys)	GNAT2 (E245K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100572	NM_001377295.2(GNAT2):c.729G>A (p.Met243Ile)	GNAT2 (M243I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1043506	NM_001377295.2(GNAT2):c.728T>C (p.Met243Thr)	GNAT2 (M243T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950978	NM_001377295.2(GNAT2):c.725G>A (p.Arg242His)	GNAT2 (R242H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623281	NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys)	GNAT2 (R242C)	Single nucleotide variant (missense variant)	Achromatopsia 4 +1 more	GUncertain significance
Select item 1138339	NM_001377295.2(GNAT2):c.723T>C (p.Asn241=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747959	NM_001377295.2(GNAT2):c.721-4C>T	GNAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643470	NM_001377295.2(GNAT2):c.721-19T>C	GNAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1513539	NM_001377295.2(GNAT2):c.721-20A>G	GNAT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1648049	NM_001377295.2(GNAT2):c.720+17T>C	GNAT2, LOC129388577	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141775	NM_001377295.2(GNAT2):c.720+9C>T	GNAT2, LOC129388577	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124802	NM_001377295.2(GNAT2):c.720+8G>T	GNAT2, LOC129388577	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450369	NM_001377295.2(GNAT2):c.720+5G>C	GNAT2, LOC129388577	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 623280	NM_001377295.2(GNAT2):c.720+2T>C	GNAT2, LOC129388577	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 2125509	NM_001377295.2(GNAT2):c.720G>A (p.Val240=)	LOC129388577, GNAT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1997994	NM_001377295.2(GNAT2):c.720G>C (p.Val240=)	GNAT2, LOC129388577	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1384537	NM_001377295.2(GNAT2):c.719T>C (p.Val240Ala)	GNAT2, LOC129388577 (V240A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876589	NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys)	GNAT2, LOC129388577 (E239K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1078582	NM_001377295.2(GNAT2):c.714C>T (p.Asp238=)	GNAT2, LOC129388577	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052854	NM_001377295.2(GNAT2):c.701T>C (p.Leu234Pro)	GNAT2, LOC129388577 (L234P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352937	NM_001377295.2(GNAT2):c.679C>G (p.Leu227Val)	GNAT2, LOC129388577 (L227V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291719	NM_001377295.2(GNAT2):c.672T>C (p.Cys224=)	GNAT2, LOC129388577	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 937645	NM_001377295.2(GNAT2):c.650G>A (p.Gly217Glu)	GNAT2, LOC129388577 (G217E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906519	NM_001377295.2(GNAT2):c.627G>A (p.Lys209=)	GNAT2, LOC129388577	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623279	NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr)	GNAT2, LOC129388577 (R208T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623278	NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val)	GNAT2, LOC129388577 (E207V)	Single nucleotide variant (missense variant)	Cone dystrophy	GPathogenic
Select item 1545118	NM_001377295.2(GNAT2):c.618C>T (p.Ser206=)	GNAT2, LOC129388577	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 291720	NM_001377295.2(GNAT2):c.609G>T (p.Gly203=)	GNAT2, LOC129388577	Single nucleotide variant (synonymous variant)	Achromatopsia 4 +1 more	GConflicting classifications of pathogenicity
Select item 812114	NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu)	GNAT2, LOC129388577 (G202E)	Single nucleotide variant (missense variant)	Achromatopsia 4	GPathogenic
Select item 623277	NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys)	GNAT2 (M198K)	Single nucleotide variant (missense variant)	Achromatopsia 4	GUncertain significance
Select item 866040	NM_001377295.2(GNAT2):c.591-1G>C	GNAT2	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 623276	NM_001377295.2(GNAT2):c.591-2A>C	GNAT2	Single nucleotide variant (splice acceptor variant)	Achromatopsia	GPathogenic

<< First< Prev

Page of 3