ClinVar for Gene (Select 3881) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289411	NM_002277.3(KRT31):c.1021G>A (p.Val341Met)	KRT31 (V341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289410	NM_002277.3(KRT31):c.288G>T (p.Glu96Asp)	KRT31 (E96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289409	NM_002277.3(KRT31):c.1042C>T (p.Arg348Trp)	KRT31 (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289408	NM_002277.3(KRT31):c.925T>G (p.Ser309Ala)	KRT31 (S309A)	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 3116450	NM_002277.3(KRT31):c.956C>T (p.Thr319Ile)	KRT31 (T319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116449	NM_002277.3(KRT31):c.841G>A (p.Ala281Thr)	KRT31 (A281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116448	NM_002277.3(KRT31):c.830G>A (p.Arg277His)	KRT31 (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116447	NM_002277.3(KRT31):c.727G>A (p.Val243Met)	KRT31 (V243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116445	NM_002277.3(KRT31):c.385G>A (p.Val129Met)	KRT31 (V129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116444	NM_002277.3(KRT31):c.26G>T (p.Ser9Ile)	KRT31 (S9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116443	NM_002277.3(KRT31):c.125G>A (p.Ser42Asn)	KRT31 (S42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116442	NM_002277.3(KRT31):c.1208C>T (p.Ala403Val)	KRT31 (A403V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647766	NM_002277.3(KRT31):c.288G>A (p.Glu96=)	KRT31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602836	NM_002277.3(KRT31):c.235C>T (p.Arg79Trp)	KRT31 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511771	NM_002277.3(KRT31):c.1087G>A (p.Glu363Lys)	KRT31 (E363K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496180	NM_002277.3(KRT31):c.1043G>A (p.Arg348Gln)	KRT31 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467239	NM_002277.3(KRT31):c.1213C>T (p.Arg405Cys)	KRT31 (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463924	NM_002277.3(KRT31):c.16T>C (p.Cys6Arg)	KRT31 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457549	NM_002277.3(KRT31):c.1247G>A (p.Arg416His)	KRT31 (R416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396497	NM_002277.3(KRT31):c.1214G>A (p.Arg405His)	KRT31 (R405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394051	NM_002277.3(KRT31):c.605G>A (p.Arg202His)	KRT31 (R202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388176	NM_002277.3(KRT31):c.841G>T (p.Ala281Ser)	KRT31 (A281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373291	NM_002277.3(KRT31):c.623G>T (p.Arg208Leu)	KRT31 (R208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332612	NM_002277.3(KRT31):c.1195T>C (p.Cys399Arg)	KRT31 (C399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311232	NM_002277.3(KRT31):c.752C>T (p.Thr251Ile)	KRT31 (T251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289533	NM_002277.3(KRT31):c.158A>G (p.Asn53Ser)	KRT31 (N53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265809	NM_002277.3(KRT31):c.961G>C (p.Val321Leu)	KRT31 (V321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244224	NM_002277.3(KRT31):c.244G>A (p.Ala82Thr)	KRT31 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221478	NM_002277.3(KRT31):c.1148G>A (p.Gly383Glu)	KRT31 (G383E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208813	NM_002277.3(KRT31):c.863C>A (p.Ala288Asp)	KRT31 (A288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777164	NM_002277.3(KRT31):c.840C>T (p.Asn280=)	KRT31	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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: 37