ClinVar for Gene (Select 3306) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2535737	NM_021979.4(HSPA2):c.911G>T (p.Arg304Leu)	HSPA2 (R304L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515277	NM_021979.4(HSPA2):c.304C>T (p.Pro102Ser)	HSPA2 (P102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490865	NM_021979.4(HSPA2):c.1408G>T (p.Ala470Ser)	HSPA2 (A470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488039	NM_021979.4(HSPA2):c.946A>T (p.Thr316Ser)	HSPA2 (T316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486038	NM_021979.4(HSPA2):c.130G>A (p.Ala44Thr)	HSPA2 (A44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473074	NM_021979.4(HSPA2):c.1766T>C (p.Met589Thr)	HSPA2 (M589T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459408	NM_021979.4(HSPA2):c.341C>A (p.Thr114Asn)	HSPA2 (T114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341288	NM_021979.4(HSPA2):c.1568A>G (p.Gln523Arg)	HSPA2 (Q523R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329058	NM_021979.4(HSPA2):c.1179C>G (p.Asp393Glu)	HSPA2 (D393E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299416	NM_021979.4(HSPA2):c.1381A>G (p.Lys461Glu)	HSPA2 (K461E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291288	NM_021979.4(HSPA2):c.915C>A (p.Phe305Leu)	HSPA2 (F305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263136	NM_021979.4(HSPA2):c.320A>G (p.Glu107Gly)	HSPA2 (E107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240819	NM_021979.4(HSPA2):c.425G>A (p.Ser142Asn)	HSPA2 (S142N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238997	NM_021979.4(HSPA2):c.1771G>A (p.Glu591Lys)	HSPA2 (E591K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 790145	NM_021979.4(HSPA2):c.1149C>T (p.Leu383=)	HSPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779688	NM_021979.4(HSPA2):c.1659G>A (p.Lys553=)	HSPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708411	NM_021979.4(HSPA2):c.1860C>T (p.Gly620=)	HSPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33