KRTAP5-11[gene] - ClinVar

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Items: 23

	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 2257772	NM_001005405.3(KRTAP5-11):c.443T>A (p.Val148Asp)	KRTAP5-11 (V148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117094	NM_001005405.3(KRTAP5-11):c.413A>C (p.Lys138Thr)	KRTAP5-11 (K138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367325	NM_001005405.3(KRTAP5-11):c.370C>A (p.Pro124Thr)	KRTAP5-11 (P124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117093	NM_001005405.3(KRTAP5-11):c.335G>C (p.Cys112Ser)	KRTAP5-11 (C112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357760	NM_001005405.3(KRTAP5-11):c.326C>T (p.Pro109Leu)	KRTAP5-11 (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642108	NM_001005405.3(KRTAP5-11):c.317G>A (p.Cys106Tyr)	KRTAP5-11 (C106Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2315766	NM_001005405.3(KRTAP5-11):c.253T>C (p.Ser85Pro)	KRTAP5-11 (S85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550282	NM_001005405.3(KRTAP5-11):c.218C>T (p.Ser73Phe)	KRTAP5-11 (S73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329060	NM_001005405.3(KRTAP5-11):c.215G>A (p.Ser72Asn)	KRTAP5-11 (S72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548702	NM_001005405.3(KRTAP5-11):c.181G>A (p.Gly61Arg)	KRTAP5-11 (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353626	NM_001005405.3(KRTAP5-11):c.83G>C (p.Cys28Ser)	KRTAP5-11 (C28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117095	NM_001005405.3(KRTAP5-11):c.46G>A (p.Gly16Ser)	KRTAP5-11 (G16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301691	NM_001005405.3(KRTAP5-11):c.38G>T (p.Gly13Val)	KRTAP5-11 (G13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 23