KRTAP5-8[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 3289758	NM_021046.3(KRTAP5-8):c.37G>A (p.Gly13Ser)	KRTAP5-8 (G13S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117122	NM_021046.3(KRTAP5-8):c.52G>A (p.Gly18Ser)	KRTAP5-8 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371072	NM_021046.3(KRTAP5-8):c.83G>A (p.Cys28Tyr)	KRTAP5-8 (C28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117124	NM_021046.3(KRTAP5-8):c.86G>A (p.Cys29Tyr)	KRTAP5-8 (C29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289763	NM_021046.3(KRTAP5-8):c.131C>T (p.Ala44Val)	KRTAP5-8 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289760	NM_021046.3(KRTAP5-8):c.163G>A (p.Gly55Ser)	KRTAP5-8 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289756	NM_021046.3(KRTAP5-8):c.179G>A (p.Arg60His)	KRTAP5-8 (R60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117120	NM_021046.3(KRTAP5-8):c.202G>A (p.Gly68Arg)	KRTAP5-8 (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289759	NM_021046.3(KRTAP5-8):c.242G>T (p.Gly81Val)	KRTAP5-8 (G81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117121	NM_021046.3(KRTAP5-8):c.439A>G (p.Ser147Gly)	KRTAP5-8 (S147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289761	NM_021046.3(KRTAP5-8):c.452C>T (p.Pro151Leu)	KRTAP5-8 (P151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289762	NM_021046.3(KRTAP5-8):c.478T>G (p.Ser160Ala)	KRTAP5-8 (S160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204967	NM_021046.3(KRTAP5-8):c.531C>G (p.Cys177Trp)	KRTAP5-8 (C177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117123	NM_021046.3(KRTAP5-8):c.556A>G (p.Lys186Glu)	KRTAP5-8 (K186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289757	NM_021046.3(KRTAP5-8):c.560T>C (p.Ile187Thr)	KRTAP5-8 (I187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1808062	GRCh37/hg19 11q13.4(chr11:71051703-71655505)x3	DEFB108B, DHCR7 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 830767	NC_000011.9:g.(?_71146401)_(71907241_?)dup	ANAPC15, DEFB108B +16 more	Duplication	Cerebral folate transport deficiency	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 25