ClinVar for Gene (Select 390792) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289464	NM_213656.4(KRT39):c.148G>A (p.Val50Ile)	KRT39 (V50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289463	NM_213656.4(KRT39):c.1243A>G (p.Lys415Glu)	KRT39 (K415E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289462	NM_213656.4(KRT39):c.317G>A (p.Arg106His)	KRT39 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289461	NM_213656.4(KRT39):c.727T>C (p.Cys243Arg)	KRT39 (C243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289460	NM_213656.4(KRT39):c.499C>G (p.Leu167Val)	KRT39 (L167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289459	NM_213656.4(KRT39):c.1153G>A (p.Val385Ile)	KRT39 (V385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289458	NM_213656.4(KRT39):c.1349C>A (p.Ala450Asp)	KRT39 (A450D)	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 3116527	NM_213656.4(KRT39):c.938T>C (p.Ile313Thr)	KRT39 (I313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116526	NM_213656.4(KRT39):c.790G>A (p.Val264Ile)	KRT39 (V264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116524	NM_213656.4(KRT39):c.235C>T (p.Arg79Cys)	KRT39 (R79C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116523	NM_213656.4(KRT39):c.1370T>C (p.Ile457Thr)	KRT39 (I457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116522	NM_213656.4(KRT39):c.1201G>C (p.Glu401Gln)	KRT39 (E401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116521	NM_213656.4(KRT39):c.1138G>A (p.Glu380Lys)	KRT39 (E380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589647	NM_213656.4(KRT39):c.751A>G (p.Ile251Val)	KRT39 (I251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541734	NM_213656.4(KRT39):c.1112C>T (p.Ala371Val)	KRT39 (A371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512633	NM_213656.4(KRT39):c.197G>C (p.Cys66Ser)	KRT39 (C66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466152	NM_213656.4(KRT39):c.949C>T (p.Arg317Cys)	KRT39 (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464997	NM_213656.4(KRT39):c.1247G>A (p.Cys416Tyr)	KRT39 (C416Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392839	NM_213656.4(KRT39):c.877G>A (p.Glu293Lys)	KRT39 (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384261	NM_213656.4(KRT39):c.1295C>T (p.Thr432Met)	KRT39 (T432M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2374869	NM_213656.4(KRT39):c.449T>C (p.Ile150Thr)	KRT39 (I150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360641	NM_213656.4(KRT39):c.1193G>A (p.Ser398Asn)	KRT39 (S398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360580	NM_213656.4(KRT39):c.1442A>T (p.Gln481Leu)	KRT39 (Q481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360579	NM_213656.4(KRT39):c.1438G>T (p.Val480Leu)	KRT39 (V480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358247	NM_213656.4(KRT39):c.1414A>G (p.Lys472Glu)	KRT39 (K472E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345026	NM_213656.4(KRT39):c.170A>G (p.Gln57Arg)	KRT39 (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341031	NM_213656.4(KRT39):c.1163G>A (p.Arg388Gln)	KRT39 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335357	NM_213656.4(KRT39):c.13G>T (p.Gly5Cys)	KRT39 (G5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318563	NM_213656.4(KRT39):c.1036C>T (p.Arg346Cys)	KRT39 (R346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307369	NM_213656.4(KRT39):c.847G>A (p.Val283Met)	KRT39 (V283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268073	NM_213656.4(KRT39):c.950G>T (p.Arg317Leu)	KRT39 (R317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264387	NM_213656.4(KRT39):c.866C>T (p.Thr289Met)	KRT39 (T289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251541	NM_213656.4(KRT39):c.1127A>G (p.Asn376Ser)	KRT39 (N376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237892	NM_213656.4(KRT39):c.992G>A (p.Arg331Gln)	KRT39 (R331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237699	NM_213656.4(KRT39):c.758T>G (p.Val253Gly)	KRT39 (V253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221132	NM_213656.4(KRT39):c.541T>A (p.Leu181Met)	KRT39 (L181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217285	NM_213656.4(KRT39):c.1234C>T (p.Arg412Cys)	KRT39 (R412C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213445	NM_213656.4(KRT39):c.842A>G (p.Lys281Arg)	KRT39 (K281R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 100899	NM_213656.4(KRT39):c.1461A>C (p.Arg487Ser)	KRT39 (R487S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

ClinVar

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Links from Gene

Items: 47