ST14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 1287646	NC_000011.10:g.130159766T>C	LOC130007087, ST14	Single nucleotide variant	not provided	GBenign
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 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 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 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 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 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)	ST14-related disorder +1 more	GBenign/Likely benign
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)	ST14-related disorder +1 more	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 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)	not provided +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 2463710	NM_021978.4(ST14):c.931G>A (p.Val311Ile)	ST14 (V311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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