6421[HGNC] - ClinVar

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Items: 35

	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 2228851	NM_002275.4(KRT15):c.1339C>A (p.Gln447Lys)	KRT15 (Q447K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207416	NM_002275.4(KRT15):c.1220G>A (p.Arg407His)	KRT15 (R407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392409	NM_002275.4(KRT15):c.1210G>A (p.Ala404Thr)	KRT15 (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332398	NM_002275.4(KRT15):c.1205A>G (p.Glu402Gly)	KRT15 (E402G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466950	NM_002275.4(KRT15):c.1193G>A (p.Arg398Gln)	KRT15 (R398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315206	NM_002275.4(KRT15):c.1130A>G (p.Glu377Gly)	KRT15 (E377G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735313	NM_002275.4(KRT15):c.1083G>A (p.Leu361=)	KRT15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3116333	NM_002275.4(KRT15):c.1044C>G (p.Asn348Lys)	KRT15 (N348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553909	NM_002275.4(KRT15):c.1023C>G (p.Ser341Arg)	KRT15 (S341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480533	NM_002275.4(KRT15):c.880G>A (p.Glu294Lys)	KRT15 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116337	NM_002275.4(KRT15):c.843G>C (p.Gln281His)	KRT15 (Q281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537887	NM_002275.4(KRT15):c.751T>C (p.Phe251Leu)	KRT15 (F251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116336	NM_002275.4(KRT15):c.728A>G (p.Asn243Ser)	KRT15 (N243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488428	NM_002275.4(KRT15):c.667A>G (p.Arg223Gly)	KRT15 (R223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263202	NM_002275.4(KRT15):c.664G>T (p.Ala222Ser)	KRT15 (A222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525246	NM_002275.4(KRT15):c.598G>A (p.Ala200Thr)	KRT15 (A200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285115	NM_002275.4(KRT15):c.548A>G (p.Asn183Ser)	KRT15 (N183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340757	NM_002275.4(KRT15):c.490C>T (p.Arg164Trp)	KRT15 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373726	NM_002275.4(KRT15):c.473A>G (p.Lys158Arg)	KRT15 (K158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620649	NM_002275.4(KRT15):c.454G>A (p.Asp152Asn)	KRT15 (D152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289343	NM_002275.4(KRT15):c.251G>A (p.Gly84Asp)	KRT15 (G84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116334	NM_002275.4(KRT15):c.175G>A (p.Gly59Arg)	KRT15 (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647771	NM_002275.4(KRT15):c.125G>A (p.Arg42Gln)	KRT15 (R42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395851	NM_002275.4(KRT15):c.122G>A (p.Ser41Asn)	KRT15 (S41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783781	NM_002275.4(KRT15):c.95G>A (p.Gly32Glu)	KRT15 (G32E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246131	NM_002275.4(KRT15):c.94G>A (p.Gly32Arg)	KRT15 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335896	NM_002275.4(KRT15):c.92G>A (p.Gly31Asp)	KRT15 (G31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245230	NM_002275.4(KRT15):c.41G>A (p.Gly14Glu)	KRT15 (G14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477583	NM_002275.4(KRT15):c.32C>A (p.Ser11Tyr)	KRT15 (S11Y)	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 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

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Items: 35