ClinVar for Gene (Select 3880) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116358	NM_002276.5(KRT19):c.791G>A (p.Arg264Gln)	KRT19 (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116357	NM_002276.5(KRT19):c.535G>A (p.Val179Met)	KRT19 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116356	NM_002276.5(KRT19):c.221G>T (p.Gly74Val)	KRT19 (G74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116355	NM_002276.5(KRT19):c.220G>T (p.Gly74Trp)	KRT19 (G74W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116354	NM_002276.5(KRT19):c.1112C>T (p.Ser371Leu)	KRT19 (S371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116353	NM_002276.5(KRT19):c.1072C>T (p.Arg358Trp)	KRT19 (R358W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116352	NM_002276.5(KRT19):c.1030G>A (p.Gly344Ser)	KRT19 (G344S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612961	NM_002276.5(KRT19):c.193T>A (p.Tyr65Asn)	KRT19 (Y65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606532	NM_002276.5(KRT19):c.872T>C (p.Met291Thr)	KRT19 (M291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606531	NM_002276.5(KRT19):c.157G>T (p.Val53Leu)	KRT19 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597927	NM_002276.5(KRT19):c.75T>G (p.Phe25Leu)	KRT19 (F25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510502	NM_002276.5(KRT19):c.901C>T (p.Arg301Cys)	KRT19 (R301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494803	NM_002276.5(KRT19):c.476G>C (p.Arg159Pro)	KRT19 (R159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473080	NM_002276.5(KRT19):c.1058G>A (p.Arg353Gln)	KRT19 (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460829	NM_002276.5(KRT19):c.946A>G (p.Met316Val)	KRT19 (M316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407242	NM_002276.5(KRT19):c.331A>C (p.Lys111Gln)	KRT19 (K111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395508	NM_002276.5(KRT19):c.386A>C (p.His129Pro)	KRT19 (H129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358437	NM_002276.5(KRT19):c.475C>T (p.Arg159Cys)	KRT19 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353881	NM_002276.5(KRT19):c.1114C>T (p.Arg372Trp)	KRT19 (R372W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317434	NM_002276.5(KRT19):c.19C>A (p.Arg7Ser)	KRT19 (R7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277375	NM_002276.5(KRT19):c.734T>C (p.Leu245Pro)	KRT19 (L245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263140	NM_002276.5(KRT19):c.1007C>A (p.Ala336Glu)	KRT19 (A336E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239458	NM_002276.5(KRT19):c.1187C>A (p.Ala396Asp)	KRT19 (A396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215956	NM_002276.5(KRT19):c.98C>A (p.Ala33Glu)	KRT19 (A33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207499	NM_002276.5(KRT19):c.128G>A (p.Arg43His)	KRT19 (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981809	NM_002276.5(KRT19):c.560G>A (p.Arg187His)	KRT19 (R187H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 734202	NM_002276.5(KRT19):c.231G>T (p.Ala77=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734201	NM_002276.5(KRT19):c.465C>T (p.Ile155=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 66544	NM_002276.5(KRT19):c.90C>T (p.Ala30=)	KRT19	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 66543	NM_002276.5(KRT19):c.685G>A (p.Val229Met)	KRT19 (V229M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66542	NM_002276.5(KRT19):c.552C>T (p.Asn184=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66541	NM_002276.5(KRT19):c.49G>A (p.Gly17Ser)	KRT19 (G17S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66540	NM_002276.5(KRT19):c.471T>C (p.Asn157=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66539	NM_002276.5(KRT19):c.179C>G (p.Ala60Gly)	KRT19 (A60G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66538	NM_002276.4(KRT19):c.-99G>C	KRT19	Single nucleotide variant	not provided	Gnot provided
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 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

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Links from Gene

Items: 40