KRTAP4-7[gene] - ClinVar

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Items: 26

	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 2590747	NM_033061.4(KRTAP4-7):c.76C>T (p.Arg26Cys)	KRTAP4-7 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587918	NM_033061.4(KRTAP4-7):c.85T>G (p.Cys29Gly)	KRTAP4-7 (C29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311906	NM_033061.4(KRTAP4-7):c.100T>C (p.Cys34Arg)	KRTAP4-7 (C34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569901	NM_033061.4(KRTAP4-7):c.149G>C (p.Cys50Ser)	KRTAP4-7 (C50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490078	NM_033061.4(KRTAP4-7):c.172G>T (p.Val58Leu)	KRTAP4-7 (V58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025012	NM_033061.4(KRTAP4-7):c.183A>G (p.Gln61=)	KRTAP4-7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117068	NM_033061.4(KRTAP4-7):c.188C>T (p.Thr63Ile)	KRTAP4-7 (T63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529831	NM_033061.4(KRTAP4-7):c.303G>T (p.Gln101His)	KRTAP4-7 (Q101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117069	NM_033061.4(KRTAP4-7):c.323C>A (p.Thr108Asn)	KRTAP4-7 (T108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512720	NM_033061.4(KRTAP4-7):c.325T>C (p.Cys109Arg)	KRTAP4-7 (C109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213264	NM_033061.4(KRTAP4-7):c.329G>A (p.Cys110Tyr)	KRTAP4-7 (C110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117070	NM_033061.4(KRTAP4-7):c.332G>C (p.Arg111Pro)	KRTAP4-7 (H111P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311851	NM_033061.4(KRTAP4-7):c.334C>T (p.Pro112Ser)	KRTAP4-7 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596246	NM_033061.4(KRTAP4-7):c.335C>T (p.Pro112Leu)	KRTAP4-7 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485029	NM_033061.4(KRTAP4-7):c.386C>T (p.Ser129Phe)	KRTAP4-7 (S129F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621980	NM_033061.4(KRTAP4-7):c.404A>G (p.Tyr135Cys)	KRTAP4-7 (Y135C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278506	NM_033061.4(KRTAP4-7):c.422T>G (p.Ile141Ser)	KRTAP4-7 (I196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117071	NM_033061.4(KRTAP4-7):c.448T>C (p.Cys150Arg)	KRTAP4-7 (C205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223984	NM_033061.4(KRTAP4-7):c.458C>G (p.Ser153Cys)	KRTAP4-7 (S208C +1 more)	Single nucleotide variant (missense variant)	not specified	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	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: 26