KRTAP4-12[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 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 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 2391082	NM_031854.3(KRTAP4-12):c.566C>G (p.Thr189Ser)	KRTAP4-12 (T189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364886	NM_031854.3(KRTAP4-12):c.521T>C (p.Val174Ala)	KRTAP4-12 (V174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211532	NM_031854.3(KRTAP4-12):c.503G>A (p.Arg168His)	KRTAP4-12 (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531480	NM_031854.3(KRTAP4-12):c.458C>G (p.Pro153Arg)	KRTAP4-12 (P153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530612	NM_031854.3(KRTAP4-12):c.441C>G (p.Ile147Met)	KRTAP4-12 (I147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117048	NM_031854.3(KRTAP4-12):c.389G>A (p.Cys130Tyr)	KRTAP4-12 (C130Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489645	NM_031854.3(KRTAP4-12):c.386A>C (p.Gln129Pro)	KRTAP4-12 (Q129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117047	NM_031854.3(KRTAP4-12):c.383C>G (p.Pro128Arg)	KRTAP4-12 (P128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117046	NM_031854.3(KRTAP4-12):c.382C>T (p.Pro128Ser)	KRTAP4-12 (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510521	NM_031854.3(KRTAP4-12):c.350G>A (p.Arg117His)	KRTAP4-12 (R117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117045	NM_031854.3(KRTAP4-12):c.331T>C (p.Cys111Arg)	KRTAP4-12 (C111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361044	NM_031854.3(KRTAP4-12):c.307C>T (p.Pro103Ser)	KRTAP4-12 (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647755	NM_031854.3(KRTAP4-12):c.306C>T (p.Arg102=)	KRTAP4-12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117044	NM_031854.3(KRTAP4-12):c.230G>T (p.Arg77Leu)	KRTAP4-12 (R77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647756	NM_031854.3(KRTAP4-12):c.222C>T (p.Thr74=)	KRTAP4-12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117043	NM_031854.3(KRTAP4-12):c.218C>T (p.Thr73Ile)	KRTAP4-12 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117042	NM_031854.3(KRTAP4-12):c.185G>T (p.Arg62Leu)	KRTAP4-12 (R62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307032	NM_031854.3(KRTAP4-12):c.184C>T (p.Arg62Cys)	KRTAP4-12 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300162	NM_031854.3(KRTAP4-12):c.143C>T (p.Pro48Leu)	KRTAP4-12 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335527	NM_031854.3(KRTAP4-12):c.122G>C (p.Cys41Ser)	KRTAP4-12 (C41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386581	NM_031854.3(KRTAP4-12):c.91T>C (p.Cys31Arg)	KRTAP4-12 (C31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117050	NM_031854.3(KRTAP4-12):c.65G>A (p.Arg22His)	KRTAP4-12 (R22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117049	NM_031854.3(KRTAP4-12):c.64C>A (p.Arg22Ser)	KRTAP4-12 (R22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458419	NM_031854.3(KRTAP4-12):c.16T>G (p.Cys6Gly)	KRTAP4-12 (C6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117051	NM_031854.3(KRTAP4-12):c.8A>G (p.Asn3Ser)	KRTAP4-12 (N3S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 32