ClinVar for Gene (Select 84616) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289712	NM_032524.2(KRTAP4-4):c.38A>T (p.Gln13Leu)	KRTAP4-4 (Q13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3117060	NM_032524.2(KRTAP4-4):c.352C>T (p.Pro118Ser)	KRTAP4-4 (P118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117059	NM_032524.2(KRTAP4-4):c.106T>C (p.Cys36Arg)	KRTAP4-4 (C36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647761	NM_032524.2(KRTAP4-4):c.267A>G (p.Gln89=)	KRTAP4-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647760	NM_032524.2(KRTAP4-4):c.279T>C (p.Thr93=)	KRTAP4-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647759	NM_032524.2(KRTAP4-4):c.288T>C (p.Cys96=)	KRTAP4-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647758	NM_032524.2(KRTAP4-4):c.291G>A (p.Arg97=)	KRTAP4-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607620	NM_032524.2(KRTAP4-4):c.172A>T (p.Thr58Ser)	KRTAP4-4 (T58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600327	NM_032524.2(KRTAP4-4):c.25G>A (p.Val9Met)	KRTAP4-4 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548687	NM_032524.2(KRTAP4-4):c.119G>T (p.Cys40Phe)	KRTAP4-4 (C40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536067	NM_032524.2(KRTAP4-4):c.286T>C (p.Cys96Arg)	KRTAP4-4 (C96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529874	NM_032524.2(KRTAP4-4):c.131G>C (p.Ser44Thr)	KRTAP4-4 (S44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523103	NM_032524.2(KRTAP4-4):c.62G>C (p.Cys21Ser)	KRTAP4-4 (C21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516754	NM_032524.2(KRTAP4-4):c.243C>G (p.Cys81Trp)	KRTAP4-4 (C81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293587	NM_032524.2(KRTAP4-4):c.8A>G (p.Asn3Ser)	KRTAP4-4 (N3S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271980	NM_032524.2(KRTAP4-4):c.70A>G (p.Ser24Gly)	KRTAP4-4 (S24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262348	NM_032524.2(KRTAP4-4):c.322C>A (p.Pro108Thr)	KRTAP4-4 (P108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253758	NM_032524.2(KRTAP4-4):c.112C>T (p.Pro38Ser)	KRTAP4-4 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209886	NM_032524.2(KRTAP4-4):c.397C>A (p.Pro133Thr)	KRTAP4-4 (P133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239554	NM_032524.2(KRTAP4-4):c.74A>G (p.Tyr25Cys)	KRTAP4-4 (Y25C)	Single nucleotide variant (missense variant)	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	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
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	AARSD1, AATF +2032 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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28