VSX2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	ZNF410, ENTPD5 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 314189	NM_182894.3(VSX2):c.-68G>C	VSX2	Single nucleotide variant (5 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314190	NM_182894.3(VSX2):c.-54G>A	VSX2	Single nucleotide variant (5 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GUncertain significance
Select item 314191	NM_182894.3(VSX2):c.-43dup	VSX2	Duplication (5 prime UTR variant)	VSX2-related Microphthalmia +1 more	GUncertain significance
Select item 885073	NM_182894.3(VSX2):c.-46G>C	VSX2	Single nucleotide variant (5 prime UTR variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GLikely benign
Select item 645368	NC_000014.9:g.(?_74239552)_(74245298_?)del	VSX2	Deletion	Isolated microphthalmia 2	GPathogenic
Select item 2813462	NM_182894.3(VSX2):c.4del (p.Thr2fs)	VSX2 (T2fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 1150067	NM_182894.3(VSX2):c.6G>A (p.Thr2=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1106090	NM_182894.3(VSX2):c.6G>C (p.Thr2=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2204754	NM_182894.3(VSX2):c.8G>A (p.Gly3Glu)	VSX2 (G3E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2022813	NM_182894.3(VSX2):c.15del (p.Glu7fs)	VSX2 (E7fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 1128217	NM_182894.3(VSX2):c.18G>A (p.Gly6=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 3023106	NM_182894.3(VSX2):c.24G>T (p.Ala8=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1095540	NM_182894.3(VSX2):c.42C>A (p.Ser14=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1659319	NM_182894.3(VSX2):c.48A>T (p.Thr16=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1412831	NM_182894.3(VSX2):c.50_51insAT (p.Ala18fs)	VSX2 (A18fs)	Insertion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 1463083	NM_182894.3(VSX2):c.51G>A (p.Val17=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1453132	NM_182894.3(VSX2):c.59del (p.Ser20fs)	VSX2 (S20fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 221962	NM_182894.3(VSX2):c.71dup (p.Ala25fs)	VSX2 (A25fs)	Duplication (frameshift variant)	Isolated microphthalmia 2 +1 more	GPathogenic
Select item 468360	NM_182894.3(VSX2):c.66G>C (p.Ser22=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1108826	NM_182894.3(VSX2):c.69G>A (p.Gly23=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 725892	NM_182894.3(VSX2):c.72C>T (p.Gly24=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1151393	NM_182894.3(VSX2):c.78G>T (p.Pro26=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 796501	NM_182894.3(VSX2):c.78G>A (p.Pro26=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1374787	NM_182894.3(VSX2):c.84del (p.Arg28fs)	VSX2 (R28fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 1987034	NM_182894.3(VSX2):c.84G>A (p.Arg28=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2 +1 more	GLikely benign
Select item 1411209	NM_182894.3(VSX2):c.87C>A (p.Cys29Ter)	VSX2 (C29*)	Single nucleotide variant (nonsense)	Isolated microphthalmia 2	GPathogenic
Select item 797591	NM_182894.3(VSX2):c.90T>C (p.Thr30=)	VSX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432601	NM_182894.3(VSX2):c.91G>A (p.Gly31Arg)	VSX2 (G31R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 468361	NM_182894.3(VSX2):c.93G>A (p.Gly31=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2897509	NM_182894.3(VSX2):c.96C>T (p.Phe32=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1990009	NM_182894.3(VSX2):c.104A>G (p.Gln35Arg)	VSX2 (Q35R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2	GUncertain significance
Select item 714398	NM_182894.3(VSX2):c.105G>A (p.Gln35=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1095782	NM_182894.3(VSX2):c.117C>A (p.Gly39=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 754499	NM_182894.3(VSX2):c.117C>T (p.Gly39=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2026981	NM_182894.3(VSX2):c.126G>A (p.Lys42=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1086677	NM_182894.3(VSX2):c.132C>G (p.Pro44=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2047453	NM_182894.3(VSX2):c.134C>T (p.Pro45Leu)	VSX2 (P45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2188245	NM_182894.3(VSX2):c.135G>C (p.Pro45=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1080926	NM_182894.3(VSX2):c.135G>A (p.Pro45=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1585065	NM_182894.3(VSX2):c.144C>T (p.His48=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2961687	NM_182894.3(VSX2):c.147G>A (p.Pro49=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2101358	NM_182894.3(VSX2):c.148C>A (p.Arg50=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1098226	NM_182894.3(VSX2):c.156G>T (p.Ala52=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2133565	NM_182894.3(VSX2):c.159C>T (p.Leu53=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1140368	NM_182894.3(VSX2):c.162C>T (p.Asp54=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 468358	NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)	VSX2 (D54E)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +2 more	GConflicting classifications of pathogenicity
Select item 2758164	NM_182894.3(VSX2):c.166dup (p.Leu56fs)	VSX2 (L56fs)	Duplication (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2331244	NM_182894.3(VSX2):c.164G>A (p.Gly55Asp)	VSX2 (G55D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1083620	NM_182894.3(VSX2):c.165C>A (p.Gly55=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1153259	NM_182894.3(VSX2):c.166C>T (p.Leu56=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1936934	NM_182894.3(VSX2):c.171C>T (p.Ala57=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 706589	NM_182894.3(VSX2):c.171C>G (p.Ala57=)	VSX2	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 3 +1 more	GConflicting classifications of pathogenicity
Select item 989729	NM_182894.3(VSX2):c.173C>A (p.Pro58His)	VSX2 (P58H)	Single nucleotide variant (missense variant)	Microphthalmia	GUncertain significance
Select item 2030996	NM_182894.3(VSX2):c.174C>A (p.Pro58=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 314192	NM_182894.3(VSX2):c.175G>A (p.Gly59Arg)	VSX2 (G59R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2 +1 more	GUncertain significance
Select item 3010908	NM_182894.3(VSX2):c.177G>T (p.Gly59=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1160145	NM_182894.3(VSX2):c.177G>A (p.Gly59=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1419627	NM_182894.3(VSX2):c.179dup (p.His60fs)	VSX2 (H60fs)	Duplication (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 1545460	NM_182894.3(VSX2):c.183G>A (p.Leu61=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1121740	NM_182894.3(VSX2):c.184C>T (p.Leu62=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2912993	NM_182894.3(VSX2):c.189G>A (p.Ala63=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1596807	NM_182894.3(VSX2):c.189G>T (p.Ala63=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2843575	NM_182894.3(VSX2):c.192G>C (p.Ala64=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1156698	NM_182894.3(VSX2):c.192G>A (p.Ala64=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2212800	NM_182894.3(VSX2):c.193C>T (p.Arg65Cys)	VSX2 (R65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2855344	NM_182894.3(VSX2):c.195C>T (p.Arg65=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2851702	NM_182894.3(VSX2):c.198A>T (p.Ser66=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2806041	NM_182894.3(VSX2):c.198A>G (p.Ser66=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2988323	NM_182894.3(VSX2):c.201G>A (p.Val67=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2026717	NM_182894.3(VSX2):c.201G>T (p.Val67=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1533131	NM_182894.3(VSX2):c.201G>C (p.Val67=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1121374	NM_182894.3(VSX2):c.204C>G (p.Leu68=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 937573	NM_182894.3(VSX2):c.210del (p.Ala71fs)	VSX2 (A71fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 795709	NM_182894.3(VSX2):c.210C>A (p.Pro70=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1136086	NM_182894.3(VSX2):c.213G>C (p.Ala71=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1119098	NM_182894.3(VSX2):c.222C>A (p.Gly74=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1092150	NM_182894.3(VSX2):c.222C>T (p.Gly74=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1387187	NM_182894.3(VSX2):c.224del (p.Gly75fs)	VSX2 (G75fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2508549	NM_182894.3(VSX2):c.226A>G (p.Met76Val)	VSX2 (M76V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2960502	NM_182894.3(VSX2):c.231G>A (p.Gly77=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2738272	NM_182894.3(VSX2):c.231G>C (p.Gly77=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1146901	NM_182894.3(VSX2):c.231G>T (p.Gly77=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2116405	NM_182894.3(VSX2):c.240G>A (p.Gly80=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2059230	NM_182894.3(VSX2):c.240G>T (p.Gly80=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 1132821	NM_182894.3(VSX2):c.240G>C (p.Gly80=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 3000990	NM_182894.3(VSX2):c.249dup (p.Leu84fs)	VSX2 (L84fs)	Duplication (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2843544	NM_182894.3(VSX2):c.248_249del (p.Gly83fs)	VSX2 (G83fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 285031	NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)	VSX2 (G82R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1147928	NM_182894.3(VSX2):c.246G>A (p.Gly82=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2892163	NM_182894.3(VSX2):c.249G>T (p.Gly83=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 706510	NM_182894.3(VSX2):c.249G>A (p.Gly83=)	VSX2	Single nucleotide variant (synonymous variant)	VSX2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2897510	NM_182894.3(VSX2):c.255T>C (p.Pro85=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2017212	NM_182894.3(VSX2):c.264C>G (p.Tyr88Ter)	VSX2 (Y88*)	Single nucleotide variant (nonsense)	Isolated microphthalmia 2	GPathogenic

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