ClinVar for Gene (Select 8687) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289457	NM_006771.4(KRT38):c.439G>C (p.Val147Leu)	KRT38 (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289456	NM_006771.4(KRT38):c.1133C>A (p.Ala378Asp)	KRT38 (A378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289455	NM_006771.4(KRT38):c.1184C>T (p.Thr395Ile)	KRT38 (T395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289454	NM_006771.4(KRT38):c.166C>T (p.Arg56Cys)	KRT38 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289453	NM_006771.4(KRT38):c.817C>G (p.Leu273Val)	KRT38 (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116520	NM_006771.4(KRT38):c.862C>T (p.Arg288Cys)	KRT38 (R288C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116519	NM_006771.4(KRT38):c.593C>T (p.Ser198Phe)	KRT38 (S198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116518	NM_006771.4(KRT38):c.556G>A (p.Ala186Thr)	KRT38 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116517	NM_006771.4(KRT38):c.400G>A (p.Ala134Thr)	KRT38 (A134T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116516	NM_006771.4(KRT38):c.368G>A (p.Arg123His)	KRT38 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116515	NM_006771.4(KRT38):c.224C>A (p.Thr75Asn)	KRT38 (T75N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116513	NM_006771.4(KRT38):c.209C>T (p.Pro70Leu)	KRT38 (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116512	NM_006771.4(KRT38):c.161G>A (p.Arg54Gln)	KRT38 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116511	NM_006771.4(KRT38):c.1306A>G (p.Ser436Gly)	KRT38 (S436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116510	NM_006771.4(KRT38):c.1256C>T (p.Pro419Leu)	KRT38 (P419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116509	NM_006771.4(KRT38):c.1214G>A (p.Arg405Gln)	KRT38 (R405Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116508	NM_006771.4(KRT38):c.1211A>T (p.Tyr404Phe)	KRT38 (Y404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116507	NM_006771.4(KRT38):c.1102A>C (p.Asn368His)	KRT38 (N368H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116506	NM_006771.4(KRT38):c.1037A>G (p.Asn346Ser)	KRT38 (N346S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647767	NM_006771.4(KRT38):c.917A>C (p.Asp306Ala)	KRT38 (D306A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2624132	NM_006771.4(KRT38):c.608T>C (p.Val203Ala)	KRT38 (V203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591491	NM_006771.4(KRT38):c.448G>A (p.Asp150Asn)	KRT38 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549081	NM_006771.4(KRT38):c.794C>G (p.Pro265Arg)	KRT38 (P265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521326	NM_006771.4(KRT38):c.584G>A (p.Ser195Asn)	KRT38 (S195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508954	NM_006771.4(KRT38):c.280G>A (p.Ala94Thr)	KRT38 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461382	NM_006771.4(KRT38):c.190C>T (p.Arg64Cys)	KRT38 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401501	NM_006771.4(KRT38):c.590G>A (p.Arg197His)	KRT38 (R197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386196	NM_006771.4(KRT38):c.1186C>T (p.Arg396Trp)	KRT38 (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380296	NM_006771.4(KRT38):c.953C>T (p.Ser318Leu)	KRT38 (S318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341561	NM_006771.4(KRT38):c.1301G>A (p.Arg434His)	KRT38 (R434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331990	NM_006771.4(KRT38):c.101C>T (p.Pro34Leu)	KRT38 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329158	NM_006771.4(KRT38):c.827T>C (p.Met276Thr)	KRT38 (M276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323930	NM_006771.4(KRT38):c.1145G>A (p.Arg382Gln)	KRT38 (R382Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311022	NM_006771.4(KRT38):c.962T>C (p.Leu321Pro)	KRT38 (L321P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287239	NM_006771.4(KRT38):c.439G>A (p.Val147Met)	KRT38 (V147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262103	NM_006771.4(KRT38):c.403A>G (p.Thr135Ala)	KRT38 (T135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251779	NM_006771.4(KRT38):c.1328G>C (p.Cys443Ser)	KRT38 (C443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243218	NM_006771.4(KRT38):c.1279G>C (p.Val427Leu)	KRT38 (V427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220935	NM_006771.4(KRT38):c.220C>T (p.His74Tyr)	KRT38 (H74Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216938	NM_006771.4(KRT38):c.1300C>T (p.Arg434Cys)	KRT38 (R434C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208754	NM_006771.4(KRT38):c.320C>T (p.Thr107Ile)	KRT38 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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

ClinVar

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Links from Gene

Items: 46