KRTAP5-9[gene] - ClinVar - NCBI

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Items: 17

	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 3117125	NM_005553.4(KRTAP5-9):c.107G>A (p.Cys36Tyr)	KRTAP5-9 (C36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515644	NM_005553.4(KRTAP5-9):c.133G>A (p.Val45Met)	KRTAP5-9 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117126	NM_005553.4(KRTAP5-9):c.257G>A (p.Cys86Tyr)	KRTAP5-9 (C86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402178	NM_005553.4(KRTAP5-9):c.260G>A (p.Cys87Tyr)	KRTAP5-9 (C87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408171	NM_005553.4(KRTAP5-9):c.266C>T (p.Ser89Phe)	KRTAP5-9 (S89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351548	NM_005553.4(KRTAP5-9):c.331T>A (p.Cys111Ser)	KRTAP5-9 (C111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289765	NM_005553.4(KRTAP5-9):c.353C>T (p.Ser118Phe)	KRTAP5-9 (S118F)	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