6436[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	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 2239458	NM_002276.5(KRT19):c.1187C>A (p.Ala396Asp)	KRT19 (A396D)	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 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 2473080	NM_002276.5(KRT19):c.1058G>A (p.Arg353Gln)	KRT19 (R353Q)	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 2263140	NM_002276.5(KRT19):c.1007C>A (p.Ala336Glu)	KRT19 (A336E)	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 2510502	NM_002276.5(KRT19):c.901C>T (p.Arg301Cys)	KRT19 (R301C)	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 3116358	NM_002276.5(KRT19):c.791G>A (p.Arg264Gln)	KRT19 (R264Q)	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 66543	NM_002276.5(KRT19):c.685G>A (p.Val229Met)	KRT19 (V229M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 981809	NM_002276.5(KRT19):c.560G>A (p.Arg187His)	KRT19 (R187H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 66542	NM_002276.5(KRT19):c.552C>T (p.Asn184=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 2494803	NM_002276.5(KRT19):c.476G>C (p.Arg159Pro)	KRT19 (R159P)	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 66540	NM_002276.5(KRT19):c.471T>C (p.Asn157=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 734201	NM_002276.5(KRT19):c.465C>T (p.Ile155=)	KRT19	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2407242	NM_002276.5(KRT19):c.331A>C (p.Lys111Gln)	KRT19 (K111Q)	Single nucleotide variant (missense variant)	not specified	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 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 2612961	NM_002276.5(KRT19):c.193T>A (p.Tyr65Asn)	KRT19 (Y65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2606531	NM_002276.5(KRT19):c.157G>T (p.Val53Leu)	KRT19 (V53L)	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 2215956	NM_002276.5(KRT19):c.98C>A (p.Ala33Glu)	KRT19 (A33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66544	NM_002276.5(KRT19):c.90C>T (p.Ala30=)	KRT19	Single nucleotide variant (synonymous variant)	not specified	GBenign
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 3289350	NM_002276.5(KRT19):c.67G>T (p.Val23Leu)	KRT19 (V23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2317434	NM_002276.5(KRT19):c.19C>A (p.Arg7Ser)	KRT19 (R7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66538	NM_002276.4(KRT19):c.-99G>C	KRT19	Single nucleotide variant	not provided	Gnot provided
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41