ClinVar for Gene (Select 81872) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373745	NM_001123387.1(KRTAP2-1):c.248C>T (p.Ser83Leu)	KRTAP2-1 (S83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354368	NM_001123387.1(KRTAP2-1):c.247T>A (p.Ser83Thr)	KRTAP2-1 (S83T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337583	NM_001123387.1(KRTAP2-1):c.77G>A (p.Arg26His)	KRTAP2-1 (R26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268015	NM_001123387.1(KRTAP2-1):c.287C>T (p.Thr96Ile)	KRTAP2-1 (T96I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 564445	GRCh37/hg19 17q21.2(chr17:39043189-39492499)x1	KRT23, KRT39 +33 more	Copy number loss	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic