ClinVar for Gene (Select 8688) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289452	NM_003770.5(KRT37):c.53C>T (p.Pro18Leu)	KRT37 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289451	NM_003770.5(KRT37):c.107C>T (p.Ala36Val)	KRT37 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289450	NM_003770.5(KRT37):c.1092C>A (p.Ser364Arg)	KRT37 (S364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289449	NM_003770.5(KRT37):c.368G>A (p.Arg123His)	KRT37 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289448	NM_003770.5(KRT37):c.1118T>C (p.Leu373Ser)	KRT37 (L373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289447	NM_003770.5(KRT37):c.989T>C (p.Leu330Pro)	KRT37 (L330P)	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 3116505	NM_003770.5(KRT37):c.778G>C (p.Glu260Gln)	KRT37 (E260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116503	NM_003770.5(KRT37):c.757C>G (p.Leu253Val)	KRT37 (L253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116502	NM_003770.5(KRT37):c.589C>T (p.Arg197Cys)	KRT37 (R197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116501	NM_003770.5(KRT37):c.524T>C (p.Leu175Pro)	KRT37 (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116500	NM_003770.5(KRT37):c.440T>C (p.Val147Ala)	KRT37 (V147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116499	NM_003770.5(KRT37):c.1322C>T (p.Ser441Phe)	KRT37 (S441F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116498	NM_003770.5(KRT37):c.1183G>A (p.Ala395Thr)	KRT37 (A395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116497	NM_003770.5(KRT37):c.1061G>A (p.Arg354His)	KRT37 (R354H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615193	NM_003770.5(KRT37):c.773G>A (p.Arg258Gln)	KRT37 (R258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614821	NM_003770.5(KRT37):c.632A>C (p.Gln211Pro)	KRT37 (Q211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602664	NM_003770.5(KRT37):c.695A>G (p.Lys232Arg)	KRT37 (K232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541733	NM_003770.5(KRT37):c.632A>G (p.Gln211Arg)	KRT37 (Q211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521593	NM_003770.5(KRT37):c.1096A>C (p.Ile366Leu)	KRT37 (I366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521529	NM_003770.5(KRT37):c.363G>T (p.Lys121Asn)	KRT37 (K121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483348	NM_003770.5(KRT37):c.83T>C (p.Ile28Thr)	KRT37 (I28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476539	NM_003770.5(KRT37):c.430G>A (p.Glu144Lys)	KRT37 (E144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404379	NM_003770.5(KRT37):c.1292G>T (p.Ser431Ile)	KRT37 (S431I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394137	NM_003770.5(KRT37):c.1129C>T (p.Arg377Trp)	KRT37 (R377W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390753	NM_003770.5(KRT37):c.384G>T (p.Glu128Asp)	KRT37 (E128D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366545	NM_003770.5(KRT37):c.1177G>A (p.Val393Met)	KRT37 (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354337	NM_003770.5(KRT37):c.448G>A (p.Asp150Asn)	KRT37 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347387	NM_003770.5(KRT37):c.367C>T (p.Arg123Cys)	KRT37 (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316746	NM_003770.5(KRT37):c.434C>T (p.Ser145Phe)	KRT37 (S145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315113	NM_003770.5(KRT37):c.286G>A (p.Gly96Ser)	KRT37 (G96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314149	NM_003770.5(KRT37):c.665C>A (p.Ala222Asp)	KRT37 (A222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304208	NM_003770.5(KRT37):c.215C>T (p.Thr72Ile)	KRT37 (T72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293345	NM_003770.5(KRT37):c.128T>C (p.Met43Thr)	KRT37 (M43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292077	NM_003770.5(KRT37):c.1187G>A (p.Arg396Gln)	KRT37 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272859	NM_003770.5(KRT37):c.841G>A (p.Glu281Lys)	KRT37 (E281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258919	NM_003770.5(KRT37):c.904A>G (p.Ile302Val)	KRT37 (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257061	NM_003770.5(KRT37):c.1052C>G (p.Ala351Gly)	KRT37 (A351G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248826	NM_003770.5(KRT37):c.1060C>T (p.Arg354Cys)	KRT37 (R354C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248677	NM_003770.5(KRT37):c.1051G>A (p.Ala351Thr)	KRT37 (A351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244880	NM_003770.5(KRT37):c.1201A>T (p.Ile401Phe)	KRT37, LOC125177474 (I401F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232987	NM_003770.5(KRT37):c.129G>A (p.Met43Ile)	KRT37 (M43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229675	NM_003770.5(KRT37):c.1309G>C (p.Gly437Arg)	KRT37 (G437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223042	NM_003770.5(KRT37):c.143A>G (p.Asn48Ser)	KRT37 (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210642	NM_003770.5(KRT37):c.20C>T (p.Thr7Ile)	KRT37 (T7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

ClinVar

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Links from Gene

Items: 50