4070[geneid] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 156739	NM_002353.2(TACSTD2):c.-43393_*17422del	LOC120893139, LOC122056889 +4 more	Deletion	Small for gestational age	Gnot provided
Select item 368878	NM_002353.2(TACSTD2):c.*765C>T	TACSTD2	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 297749	NM_002353.3(TACSTD2):c.*751C>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy +1 more	GLikely benign
Select item 297750	NM_002353.3(TACSTD2):c.*714dup	TACSTD2	Duplication (3 prime UTR variant)	Corneal Dystrophy, Dominant/Recessive	GUncertain significance
Select item 297751	NM_002353.3(TACSTD2):c.*656T>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 874743	NM_002353.3(TACSTD2):c.*645T>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297752	NM_002353.3(TACSTD2):c.*637G>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297753	NM_002353.3(TACSTD2):c.*565G>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GBenign
Select item 297754	NM_002353.3(TACSTD2):c.*421A>G	TACSTD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297755	NM_002353.3(TACSTD2):c.*396T>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875684	NM_002353.3(TACSTD2):c.*298A>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 875685	NM_002353.3(TACSTD2):c.*281A>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297756	NM_002353.3(TACSTD2):c.*280T>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy +1 more	GBenign
Select item 875686	NM_002353.3(TACSTD2):c.*236C>G	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297757	NM_002353.3(TACSTD2):c.*226C>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GBenign
Select item 297758	NM_002353.3(TACSTD2):c.*202A>G	TACSTD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297759	NM_002353.3(TACSTD2):c.*166C>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GBenign
Select item 297760	NM_002353.3(TACSTD2):c.*98C>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 297761	NM_002353.3(TACSTD2):c.*94G>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297762	NM_002353.3(TACSTD2):c.*59A>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297763	NM_002353.3(TACSTD2):c.*48G>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy +1 more	GBenign
Select item 876680	NM_002353.3(TACSTD2):c.*6C>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 873846	NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)	TACSTD2 (R300Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297764	NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val)	TACSTD2 (I297V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2337658	NM_002353.3(TACSTD2):c.871G>C (p.Gly291Arg)	TACSTD2 (G291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321130	NM_002353.3(TACSTD2):c.859G>A (p.Ala287Thr)	TACSTD2 (A287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 297765	NM_002353.3(TACSTD2):c.828C>T (p.Gly276=)	TACSTD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 297766	NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp)	TACSTD2 (G276D)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy +2 more	GUncertain significance
Select item 3173365	NM_002353.3(TACSTD2):c.814C>G (p.Arg272Gly)	TACSTD2 (R272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235729	NM_002353.3(TACSTD2):c.810G>A (p.Met270Ile)	TACSTD2 (M270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327147	NM_002353.3(TACSTD2):c.806C>T (p.Ser269Phe)	TACSTD2 (S269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740065	NM_002353.3(TACSTD2):c.795C>T (p.Pro265=)	TACSTD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16188	NM_002353.3(TACSTD2):c.772_783delinsT (p.Leu257_Ile258insTer)	TACSTD2	Indel (nonsense)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 3173364	NM_002353.3(TACSTD2):c.773T>C (p.Ile258Thr)	TACSTD2 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 297767	NM_002353.3(TACSTD2):c.762G>A (p.Glu254=)	TACSTD2	Single nucleotide variant (synonymous variant)	Gelatinous droplike corneal dystrophy	GLikely benign
Select item 715494	NM_002353.3(TACSTD2):c.735C>T (p.Arg245=)	TACSTD2	Single nucleotide variant (synonymous variant)	Gelatinous droplike corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 873847	NM_002353.3(TACSTD2):c.720C>A (p.Gly240=)	TACSTD2	Single nucleotide variant (synonymous variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 3248623	NM_002353.3(TACSTD2):c.679G>A (p.Glu227Lys)	TACSTD2 (E227K)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy	GLikely pathogenic
Select item 1699935	NM_002353.3(TACSTD2):c.653del (p.Asp218fs)	TACSTD2 (D218fs)	Deletion (frameshift variant)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 297768	NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)	TACSTD2 (D216E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 16185	NM_002353.3(TACSTD2):c.632del (p.Gln211fs)	TACSTD2 (Q211fs)	Deletion (frameshift variant)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 16183	NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter)	TACSTD2 (Q207*)	Single nucleotide variant (nonsense)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 2245199	NM_002353.3(TACSTD2):c.609C>G (p.Ile203Met)	TACSTD2 (I203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324187	NM_002353.3(TACSTD2):c.570C>A (p.Phe190Leu)	TACSTD2 (F190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16189	NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro)	TACSTD2 (L186P)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 2246515	NM_002353.3(TACSTD2):c.548G>C (p.Arg183Pro)	TACSTD2 (R183P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598381	NM_002353.3(TACSTD2):c.542G>A (p.Arg181His)	TACSTD2 (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 297769	NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala)	TACSTD2 (D173A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2245832	NM_002353.3(TACSTD2):c.512A>T (p.Asp171Val)	TACSTD2 (D171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16184	NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter)	TACSTD2 (S170*)	Single nucleotide variant (nonsense)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 2260872	NM_002353.3(TACSTD2):c.505C>A (p.His169Asn)	TACSTD2 (H169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 297770	NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp)	TACSTD2 (E147D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2711700	NM_002353.3(TACSTD2):c.438T>G (p.Asp146Glu)	TACSTD2 (D146E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3173362	NM_002353.3(TACSTD2):c.425G>A (p.Ser142Asn)	TACSTD2 (S142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324188	NM_002353.3(TACSTD2):c.412A>G (p.Lys138Glu)	TACSTD2 (K138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173361	NM_002353.3(TACSTD2):c.404G>T (p.Arg135Leu)	TACSTD2 (R135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173360	NM_002353.3(TACSTD2):c.403C>T (p.Arg135Cys)	TACSTD2 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2719158	NM_002353.3(TACSTD2):c.369G>C (p.Ser123=)	TACSTD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16187	NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser)	TACSTD2 (C119S)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 16182	NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter)	TACSTD2 (Q118*)	Single nucleotide variant (nonsense)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 3057451	NM_002353.3(TACSTD2):c.318C>G (p.Pro106=)	TACSTD2	Single nucleotide variant (synonymous variant)	TACSTD2-related disorder	GLikely benign
Select item 3173359	NM_002353.3(TACSTD2):c.263C>A (p.Thr88Lys)	TACSTD2 (T88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 297771	NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly)	TACSTD2 (A86G)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3173357	NM_002353.3(TACSTD2):c.245C>T (p.Ala82Val)	TACSTD2 (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173356	NM_002353.3(TACSTD2):c.244G>A (p.Ala82Thr)	TACSTD2 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 297772	NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser)	TACSTD2 (G59S)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy +1 more	GUncertain significance
Select item 3067889	NM_002353.3(TACSTD2):c.140_148del (p.Asp47_Pro49del)	TACSTD2	Deletion (inframe_deletion)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 2252559	NM_002353.3(TACSTD2):c.139G>A (p.Asp47Asn)	TACSTD2 (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279080	NM_002353.3(TACSTD2):c.131G>A (p.Cys44Tyr)	TACSTD2 (C44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052441	NM_002353.3(TACSTD2):c.69G>A (p.Ala23=)	TACSTD2	Single nucleotide variant (synonymous variant)	TACSTD2-related disorder	GLikely benign
Select item 2407346	NM_002353.3(TACSTD2):c.16G>C (p.Gly6Arg)	TACSTD2 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874796	NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro)	TACSTD2 (R3P)	Single nucleotide variant (missense variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 16186	NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)	TACSTD2 (M1R)	Single nucleotide variant (missense variant +1 more)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 297773	NM_002353.3(TACSTD2):c.-1C>A	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Gelatinous droplike corneal dystrophy	GBenign
Select item 297774	NM_002353.3(TACSTD2):c.-54A>C	TACSTD2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297776	NM_002353.3(TACSTD2):c.-56C>G	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297775	NM_002353.3(TACSTD2):c.-56C>T	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297777	NM_002353.2(TACSTD2):c.-104C>G	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 875731	NM_002353.2(TACSTD2):c.-112G>A	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 875732	NM_002353.2(TACSTD2):c.-160C>G	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297778	NM_002353.2(TACSTD2):c.-169G>A	TACSTD2	Single nucleotide variant	not provided +1 more	GBenign
Select item 875733	NM_002353.2(TACSTD2):c.-199G>A	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 875734	NM_002353.2(TACSTD2):c.-241C>G	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297779	NM_002353.2(TACSTD2):c.-269G>C	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GUncertain significance
Select item 297780	NM_002353.2(TACSTD2):c.-314G>A	TACSTD2	Single nucleotide variant	Gelatinous droplike corneal dystrophy	GLikely benign
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	ATG4C, MRPL37 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 929333	GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3	DAB1, FGGY +4 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 96