ClinVar for Gene (Select 81850) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647752	NM_030966.2(KRTAP1-3):c.120C>T (p.Cys40=)	KRTAP1-3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599757	NM_030966.2(KRTAP1-3):c.464G>A (p.Arg155His)	KRTAP1-3 (R155H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597396	NM_030966.2(KRTAP1-3):c.388C>A (p.Pro130Thr)	KRTAP1-3 (P130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529429	NM_030966.2(KRTAP1-3):c.301G>A (p.Ala101Thr)	KRTAP1-3 (A101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389760	NM_030966.2(KRTAP1-3):c.494C>T (p.Pro165Leu)	KRTAP1-3 (P165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389747	NM_030966.2(KRTAP1-3):c.365C>T (p.Pro122Leu)	KRTAP1-3 (P122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380739	NM_030966.2(KRTAP1-3):c.394A>T (p.Thr132Ser)	KRTAP1-3 (T132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2359594	NM_030966.2(KRTAP1-3):c.227G>A (p.Cys76Tyr)	KRTAP1-3 (C76Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357303	NM_030966.2(KRTAP1-3):c.424T>G (p.Ser142Ala)	KRTAP1-3 (S142A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352183	NM_030966.2(KRTAP1-3):c.112A>C (p.Ser38Arg)	KRTAP1-3 (S38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2331767	NM_030966.2(KRTAP1-3):c.145A>G (p.Ser49Gly)	KRTAP1-3 (S49G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223878	NM_030966.2(KRTAP1-3):c.466C>G (p.Pro156Ala)	KRTAP1-3 (P156A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216222	NM_030966.2(KRTAP1-3):c.101G>C (p.Cys34Ser)	KRTAP1-3 (C34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1213714	NM_030966.2(KRTAP1-3):c.121C>G (p.Gln41Glu)	KRTAP1-3 (Q41E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 768882	NM_030966.2(KRTAP1-3):c.100_101insCCTGCCAGCCAAGCTGCTGTGAGACCAGCT (p.Ser33_Cys34insSerCysGlnProSerCysCysGluThrSer)	KRTAP1-3	Insertion (inframe_insertion)	not provided	GBenign
Select item 768881	NM_030966.2(KRTAP1-3):c.90_119dup (p.Glu31_Cys40dup)	KRTAP1-3	Duplication (inframe_insertion)	not provided	GBenign
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

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Links from Gene

Items: 23