KRTAP4-3[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +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 3117057	NM_033187.2(KRTAP4-3):c.568T>C (p.Cys190Arg)	KRTAP4-3 (C190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289711	NM_033187.2(KRTAP4-3):c.508C>A (p.Arg170Ser)	KRTAP4-3 (R170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326462	NM_033187.2(KRTAP4-3):c.504C>A (p.Ser168Arg)	KRTAP4-3 (S168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233352	NM_033187.2(KRTAP4-3):c.474T>G (p.Ser158Arg)	KRTAP4-3 (S158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382659	NM_033187.2(KRTAP4-3):c.455C>T (p.Pro152Leu)	KRTAP4-3 (P152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507920	NM_033187.2(KRTAP4-3):c.452G>A (p.Arg151His)	KRTAP4-3 (R151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293561	NM_033187.2(KRTAP4-3):c.397A>T (p.Ser133Cys)	KRTAP4-3 (S133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509447	NM_033187.2(KRTAP4-3):c.392G>A (p.Arg131His)	KRTAP4-3 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622878	NM_033187.2(KRTAP4-3):c.365C>T (p.Pro122Leu)	KRTAP4-3 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288370	NM_033187.2(KRTAP4-3):c.289A>G (p.Thr97Ala)	KRTAP4-3 (T97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257581	NM_033187.2(KRTAP4-3):c.285_286insCAGACCACCTGCTGC (p.Cys95_Arg96insGlnThrThrCysCys)	KRTAP4-3	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2458698	NM_033187.2(KRTAP4-3):c.125C>A (p.Pro42His)	KRTAP4-3 (P42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279839	NM_033187.2(KRTAP4-3):c.107G>C (p.Arg36Thr)	KRTAP4-3 (R36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117058	NM_033187.2(KRTAP4-3):c.79C>G (p.Pro27Ala)	KRTAP4-3 (P27A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495698	NM_033187.2(KRTAP4-3):c.10T>G (p.Ser4Ala)	KRTAP4-3 (S4A)	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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 22