ST14[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4039	NM_021978.4(ST14):c.3G>A (p.Met1Ile)	ST14 (M1I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 11	GPathogenic
Select item 2849266	NM_021978.4(ST14):c.6G>A (p.Gly2=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2038778	NM_021978.4(ST14):c.21C>T (p.Arg7=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2165215	NM_021978.4(ST14):c.36C>T (p.Gly12=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322914	NM_021978.4(ST14):c.50G>C (p.Gly17Ala)	ST14 (G17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170599	NM_021978.4(ST14):c.50G>T (p.Gly17Val)	ST14 (G17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170602	NM_021978.4(ST14):c.71C>T (p.Ser24Phe)	ST14 (S24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322923	NM_021978.4(ST14):c.74G>A (p.Arg25Gln)	ST14 (R25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287856	NM_021978.4(ST14):c.81+83C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020566	NM_021978.4(ST14):c.82-17C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599867	NM_021978.4(ST14):c.120A>G (p.Pro40=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3322922	NM_021978.4(ST14):c.155C>T (p.Pro52Leu)	ST14 (P52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740493	NM_021978.4(ST14):c.180C>T (p.Ala60=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254876	NM_021978.4(ST14):c.185T>C (p.Leu62Pro)	ST14 (L62P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026202	NM_021978.4(ST14):c.188T>A (p.Ile63Asn)	ST14 (I63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872044	NM_021978.4(ST14):c.238C>T (p.Gln80Ter)	ST14 (Q80*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1325140	NM_021978.4(ST14):c.241+1G>A	ST14	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 11	GLikely pathogenic
Select item 1634276	NM_021978.4(ST14):c.242-19G>A	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2613412	NM_021978.4(ST14):c.253C>T (p.Arg85Cys)	ST14 (R85C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1625929	NM_021978.4(ST14):c.254G>A (p.Arg85His)	ST14 (R85H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1466170	NM_021978.4(ST14):c.307G>C (p.Asp103His)	ST14 (D103H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781052	NM_021978.4(ST14):c.315C>T (p.Tyr105=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3322920	NM_021978.4(ST14):c.326A>G (p.Asn109Ser)	ST14 (N109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3025055	NM_021978.4(ST14):c.330C>T (p.Ser110=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237981	NM_021978.4(ST14):c.357G>C (p.Lys119Asn)	ST14 (K119N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610325	NM_021978.4(ST14):c.358G>A (p.Val120Met)	ST14 (V120M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322926	NM_021978.4(ST14):c.368C>T (p.Ala123Val)	ST14 (A123V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784208	NM_021978.4(ST14):c.454A>G (p.Ile152Val)	ST14 (I152V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3170596	NM_021978.4(ST14):c.481A>T (p.Ile161Phe)	ST14 (I161F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642545	NM_021978.4(ST14):c.492C>T (p.His164=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170598	NM_021978.4(ST14):c.504G>C (p.Glu168Asp)	ST14 (E168D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 773256	NM_021978.4(ST14):c.508G>A (p.Glu170Lys)	ST14 (E170K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2592334	NM_021978.4(ST14):c.511C>A (p.Arg171Ser)	ST14 (R171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730960	NM_021978.4(ST14):c.512G>A (p.Arg171His)	ST14 (R171H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2163886	NM_021978.4(ST14):c.513C>T (p.Arg171=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746927	NM_021978.4(ST14):c.522C>T (p.Ala174=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170600	NM_021978.4(ST14):c.530G>A (p.Arg177His)	ST14 (R177H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740329	NM_021978.4(ST14):c.550C>T (p.Arg184Trp)	ST14 (R184W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570087	NM_021978.4(ST14):c.551G>A (p.Arg184Gln)	ST14 (R184Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623420	NM_021978.4(ST14):c.557G>A (p.Arg186His)	ST14 (R186H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 3057628	NM_021978.4(ST14):c.558C>T (p.Arg186=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 746111	NM_021978.4(ST14):c.585A>C (p.Ser195=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754884	NM_021978.4(ST14):c.598+9G>A	ST14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097966	NM_021978.4(ST14):c.628del (p.Gln210fs)	ST14 (Q210fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1248573	NM_021978.4(ST14):c.635-132C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1670712	NM_021978.4(ST14):c.635-5C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2743343	NM_021978.4(ST14):c.639C>T (p.Ser213=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598861	NM_021978.4(ST14):c.645C>G (p.Ser215Arg)	ST14 (S215R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047937	NM_021978.4(ST14):c.657C>T (p.His219=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 2519779	NM_021978.4(ST14):c.661C>T (p.Arg221Cys)	ST14 (R221C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170601	NM_021978.4(ST14):c.662G>T (p.Arg221Leu)	ST14 (R221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514611	NM_021978.4(ST14):c.679C>G (p.Arg227Gly)	ST14 (R227G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737776	NM_021978.4(ST14):c.708C>T (p.Ser236=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354242	NM_021978.4(ST14):c.739G>A (p.Ala247Thr)	ST14 (A247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2888536	NM_021978.4(ST14):c.753C>T (p.Asp251=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322917	NM_021978.4(ST14):c.781C>T (p.Arg261Cys)	ST14 (R261C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444567	NM_021978.4(ST14):c.797C>T (p.Ala266Val)	ST14 (A266V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714501	NM_021978.4(ST14):c.798G>A (p.Ala266=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734339	NM_021978.4(ST14):c.804C>T (p.Cys268=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240392	NM_021978.4(ST14):c.814G>A (p.Gly272Ser)	ST14 (G272S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3058449	NM_021978.4(ST14):c.825G>A (p.Leu275=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 2746055	NM_021978.4(ST14):c.840C>T (p.Asn280=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1638220	NM_021978.4(ST14):c.855G>A (p.Met285Ile)	ST14 (M285I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1273229	NM_021978.4(ST14):c.875+23A>G	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 3037522	NM_021978.4(ST14):c.876-5C>G	ST14	Single nucleotide variant (intron variant)	ST14-related disorder	GLikely benign
Select item 452396	NM_021978.4(ST14):c.893C>A (p.Pro298His)	ST14 (P298H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3322921	NM_021978.4(ST14):c.913T>C (p.Phe305Leu)	ST14 (F305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463710	NM_021978.4(ST14):c.931G>A (p.Val311Ile)	ST14 (V311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371423	NM_021978.4(ST14):c.976G>A (p.Gly326Ser)	ST14 (G326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306049	NM_021978.4(ST14):c.1007G>A (p.Arg336Lys)	ST14 (R336K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 756310	NM_021978.4(ST14):c.1015+9G>C	ST14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266188	NM_021978.4(ST14):c.1015+40A>G	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 1696991	NM_021978.4(ST14):c.1027C>T (p.Arg343Cys)	ST14 (R343C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731737	NM_021978.4(ST14):c.1034G>A (p.Arg345His)	ST14 (R345H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2862877	NM_021978.4(ST14):c.1047dup (p.Thr350fs)	ST14 (T350fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 790114	NM_021978.4(ST14):c.1048A>G (p.Thr350Ala)	ST14 (T350A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2617521	NM_021978.4(ST14):c.1085C>A (p.Pro362His)	ST14 (P362H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 518237	NM_021978.4(ST14):c.1113+15G>A	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 1260790	NM_021978.4(ST14):c.1113+73A>G	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260860	NM_021978.4(ST14):c.1113+114_1113+115insGT	ST14	Insertion (intron variant)	not provided	GBenign
Select item 1239421	NM_021978.4(ST14):c.1113+115A>G	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273731	NM_021978.4(ST14):c.1114-145C>A	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2216167	NM_021978.4(ST14):c.1141C>T (p.Arg381Cys)	ST14 (R381C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1599024	NM_021978.4(ST14):c.1141C>A (p.Arg381Ser)	ST14 (R381S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2858510	NM_021978.4(ST14):c.1170C>T (p.Pro390=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406643	NM_021978.4(ST14):c.1174G>A (p.Val392Met)	ST14 (V392M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391566	NM_021978.4(ST14):c.1204G>A (p.Val402Met)	ST14 (V402M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 518238	NM_021978.4(ST14):c.1215C>T (p.Asn405=)	ST14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 714625	NM_021978.4(ST14):c.1223+10C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1648055	NM_021978.4(ST14):c.1223+15G>C	ST14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283428	NM_021978.4(ST14):c.1223+29G>A	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 2964343	NM_021978.4(ST14):c.1224-14C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175050	NM_021978.4(ST14):c.1224-6dup	ST14	Duplication (intron variant)	not provided	GBenign
Select item 2849267	NM_021978.4(ST14):c.1224-8_1224-7insA	ST14	Insertion (intron variant)	not provided	GBenign
Select item 1206257	NM_021978.4(ST14):c.1224-8_1224-7insT	ST14	Insertion (intron variant)	ST14-related disorder +1 more	GLikely benign
Select item 1532737	NM_021978.4(ST14):c.1224-5T>C	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2233443	NM_021978.4(ST14):c.1236G>C (p.Glu412Asp)	ST14 (E412D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1663529	NM_021978.4(ST14):c.1248C>T (p.Phe416=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593007	NM_021978.4(ST14):c.1252G>A (p.Val418Ile)	ST14 (V418I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810493	NM_021978.4(ST14):c.1255A>G (p.Thr419Ala)	ST14 (T419A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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