10872[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 898299	NM_003896.4(ST3GAL5):c.*1001G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337317	NM_003896.4(ST3GAL5):c.*976G>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337318	NM_003896.4(ST3GAL5):c.*950G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337319	NM_003896.4(ST3GAL5):c.*944C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 898300	NM_003896.4(ST3GAL5):c.*756G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337320	NM_003896.4(ST3GAL5):c.*678C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 898301	NM_003896.4(ST3GAL5):c.*649C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337321	NM_003896.4(ST3GAL5):c.*609G>C	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337322	NM_003896.4(ST3GAL5):c.*607C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337323	NM_003896.4(ST3GAL5):c.*594G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GBenign
Select item 337324	NM_003896.4(ST3GAL5):c.*482G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GBenign
Select item 337325	NM_003896.4(ST3GAL5):c.*455G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 895312	NM_003896.4(ST3GAL5):c.*432G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337326	NM_003896.4(ST3GAL5):c.*415T>C	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 895313	NM_003896.4(ST3GAL5):c.*412C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337327	NM_003896.4(ST3GAL5):c.*363A>C	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337328	NM_003896.4(ST3GAL5):c.*355G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896733	NM_003896.4(ST3GAL5):c.*344C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337329	NM_003896.4(ST3GAL5):c.*323C>G	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896734	NM_003896.4(ST3GAL5):c.*260G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896735	NM_003896.4(ST3GAL5):c.*147C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337331	NM_003896.4(ST3GAL5):c.*140A>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337330	NM_003896.4(ST3GAL5):c.*140del	ST3GAL5	Deletion (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337332	NM_003896.4(ST3GAL5):c.*115C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GLikely benign
Select item 337333	NM_003896.4(ST3GAL5):c.*69A>G	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 584076	NC_000002.11:g.(?_86067247)_(86116048_?)dup	LOC129934229, LOC129934230 +7 more	Duplication	GM3 synthase deficiency	GUncertain significance
Select item 981385	NM_003896.4(ST3GAL5):c.1255T>C (p.Ter419Arg)	ST3GAL5	Single nucleotide variant (stop lost)	Intellectual disability	GPathogenic
Select item 1629423	NM_003896.4(ST3GAL5):c.1248T>C (p.Arg416=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 649422	NM_003896.4(ST3GAL5):c.1247G>A (p.Arg416His)	ST3GAL5 (R175H +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 198500	NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)	ST3GAL5 (R416L +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +3 more	GUncertain significance
Select item 952271	NM_003896.4(ST3GAL5):c.1246C>T (p.Arg416Cys)	ST3GAL5 (R416C +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 847901	NM_003896.4(ST3GAL5):c.1244A>T (p.Asp415Val)	ST3GAL5 (D387V +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 1481492	NM_003896.4(ST3GAL5):c.1229T>C (p.Leu410Pro)	ST3GAL5 (L169P +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 198499	NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)	ST3GAL5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2765009	NM_003896.4(ST3GAL5):c.1206C>G (p.Val402=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 1992753	NM_003896.4(ST3GAL5):c.1204G>C (p.Val402Leu)	ST3GAL5 (V274L +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 624142	NM_003896.4(ST3GAL5):c.1204G>A (p.Val402Ile)	ST3GAL5 (V402I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864144	NM_003896.4(ST3GAL5):c.1203G>A (p.Leu401=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2718096	NM_003896.4(ST3GAL5):c.1195T>C (p.Leu399=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2865496	NM_003896.4(ST3GAL5):c.1194C>T (p.Leu398=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 1967394	NM_003896.4(ST3GAL5):c.1192del (p.Leu398fs)	ST3GAL5 (L270fs +5 more)	Deletion (frameshift variant)	GM3 synthase deficiency	GUncertain significance
Select item 1046004	NM_003896.4(ST3GAL5):c.1179G>A (p.Thr393=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 850569	NM_003896.4(ST3GAL5):c.1178C>T (p.Thr393Met)	ST3GAL5 (T152M +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 533028	NM_003896.4(ST3GAL5):c.1170T>C (p.Asn390=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 1018176	NM_003896.4(ST3GAL5):c.1165C>G (p.His389Asp)	ST3GAL5 (H148D +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 954697	NM_003896.4(ST3GAL5):c.1164G>A (p.Met388Ile)	ST3GAL5 (M147I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 580458	NM_003896.4(ST3GAL5):c.1163T>C (p.Met388Thr)	ST3GAL5 (M388T +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 1981267	NM_003896.4(ST3GAL5):c.1143T>C (p.Ala381=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2798556	NM_003896.4(ST3GAL5):c.1134A>G (p.Gln378=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 408901	NM_003896.4(ST3GAL5):c.1129A>G (p.Ser377Gly)	ST3GAL5 (S377G +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 665670	NM_003896.4(ST3GAL5):c.1126G>C (p.Asp376His)	ST3GAL5 (D353H +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 464396	NM_003896.4(ST3GAL5):c.1126G>A (p.Asp376Asn)	ST3GAL5 (D376N +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 1463997	NM_003896.4(ST3GAL5):c.1117C>T (p.His373Tyr)	ST3GAL5 (H245Y +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 2748014	NM_003896.4(ST3GAL5):c.1110A>G (p.Thr370=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 1023124	NM_003896.4(ST3GAL5):c.1109C>T (p.Thr370Ile)	ST3GAL5 (T129I +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 1043820	NM_003896.4(ST3GAL5):c.1105A>G (p.Arg369Gly)	ST3GAL5 (R241G +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 2708284	NM_003896.4(ST3GAL5):c.1101A>G (p.Gln367=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 1000196	NM_003896.4(ST3GAL5):c.1097A>G (p.Asn366Ser)	ST3GAL5 (N125S +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 1021901	NM_003896.4(ST3GAL5):c.1096A>G (p.Asn366Asp)	ST3GAL5 (N125D +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 2170417	NM_003896.4(ST3GAL5):c.1093C>T (p.Leu365Phe)	ST3GAL5 (L237F +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 644446	NM_003896.4(ST3GAL5):c.1093C>G (p.Leu365Val)	ST3GAL5 (L237V +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 649313	NM_003896.4(ST3GAL5):c.1079G>A (p.Gly360Asp)	ST3GAL5 (G332D +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 1904781	NM_003896.4(ST3GAL5):c.1077G>A (p.Ala359=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 578981	NM_003896.4(ST3GAL5):c.1076C>T (p.Ala359Val)	ST3GAL5 (A359V +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 140575	NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	ST3GAL5 (E332K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1679274	NM_003896.4(ST3GAL5):c.1060G>A (p.Asp354Asn)	ST3GAL5 (D113N +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 130381	NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3170636	NM_003896.4(ST3GAL5):c.1044A>T (p.Leu348Phe)	ST3GAL5 (L107F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1020367	NM_003896.4(ST3GAL5):c.1040T>C (p.Val347Ala)	ST3GAL5 (V106A +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 337334	NM_003896.4(ST3GAL5):c.1036G>A (p.Val346Ile)	ST3GAL5 (V346I +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1079203	NM_003896.4(ST3GAL5):c.1035C>T (p.Ala345=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 1047918	NM_003896.4(ST3GAL5):c.1030_1031del (p.Ile344fs)	ST3GAL5 (I103fs +5 more)	Deletion (frameshift variant)	GM3 synthase deficiency	GPathogenic
Select item 1485119	NM_003896.4(ST3GAL5):c.1024G>T (p.Gly342Cys)	ST3GAL5 (G101C +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 828145	NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)	ST3GAL5 (G101S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 697303	NM_003896.4(ST3GAL5):c.1023C>T (p.Ile341=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 967896	NM_003896.4(ST3GAL5):c.1012G>A (p.Val338Ile)	ST3GAL5 (V315I +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1529949	NM_003896.4(ST3GAL5):c.1011C>T (p.Asn337=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2705503	NM_003896.4(ST3GAL5):c.1009-4T>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 1576842	NM_003896.4(ST3GAL5):c.1009-7T>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2079002	NM_003896.4(ST3GAL5):c.1009-11_1009-10insTTT	ST3GAL5	Insertion (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2008034	NM_003896.4(ST3GAL5):c.1009-10C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2079007	NM_003896.4(ST3GAL5):c.1009-11C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2869467	NM_003896.4(ST3GAL5):c.1009-17T>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 1628418	NM_003896.4(ST3GAL5):c.1009-18T>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 3013904	NM_003896.4(ST3GAL5):c.1009-19C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2855467	NM_003896.4(ST3GAL5):c.1009-19C>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 1257175	NM_003896.4(ST3GAL5):c.1008+126C>G	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2793063	NM_003896.4(ST3GAL5):c.1008+16C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2835221	NM_003896.4(ST3GAL5):c.1008+15A>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2801433	NM_003896.4(ST3GAL5):c.1008+9G>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2025917	NM_003896.4(ST3GAL5):c.1008+9G>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 764973	NM_003896.4(ST3GAL5):c.1008+8T>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 949654	NM_003896.4(ST3GAL5):c.1008+6T>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GUncertain significance
Select item 2800048	NM_003896.4(ST3GAL5):c.1008+1G>A	ST3GAL5	Single nucleotide variant (splice donor variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 698811	NM_003896.4(ST3GAL5):c.1005T>C (p.Asp335=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2141240	NM_003896.4(ST3GAL5):c.1003G>C (p.Asp335His)	ST3GAL5 (D207H +4 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 2847221	NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)	ST3GAL5 (R206fs +4 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic

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