KRT38[gene] - ClinVar

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

Search results

Items: 47

	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 2251779	NM_006771.4(KRT38):c.1328G>C (p.Cys443Ser)	KRT38 (C443S)	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 2341561	NM_006771.4(KRT38):c.1301G>A (p.Arg434His)	KRT38 (R434H)	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 2243218	NM_006771.4(KRT38):c.1279G>C (p.Val427Leu)	KRT38 (V427L)	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 2386196	NM_006771.4(KRT38):c.1186C>T (p.Arg396Trp)	KRT38 (R396W)	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 2323930	NM_006771.4(KRT38):c.1145G>A (p.Arg382Gln)	KRT38 (R382Q)	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 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 2311022	NM_006771.4(KRT38):c.962T>C (p.Leu321Pro)	KRT38 (L321P)	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 2647767	NM_006771.4(KRT38):c.917A>C (p.Asp306Ala)	KRT38 (D306A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2329158	NM_006771.4(KRT38):c.827T>C (p.Met276Thr)	KRT38 (M276T)	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 2549081	NM_006771.4(KRT38):c.794C>G (p.Pro265Arg)	KRT38 (P265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3116519	NM_006771.4(KRT38):c.593C>T (p.Ser198Phe)	KRT38 (S198F)	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 2521326	NM_006771.4(KRT38):c.584G>A (p.Ser195Asn)	KRT38 (S195N)	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 2591491	NM_006771.4(KRT38):c.448G>A (p.Asp150Asn)	KRT38 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2208754	NM_006771.4(KRT38):c.320C>T (p.Thr107Ile)	KRT38 (T107I)	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 3116515	NM_006771.4(KRT38):c.224C>A (p.Thr75Asn)	KRT38 (T75N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3116513	NM_006771.4(KRT38):c.209C>T (p.Pro70Leu)	KRT38 (P70L)	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 3289454	NM_006771.4(KRT38):c.166C>T (p.Arg56Cys)	KRT38 (R56C)	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 2331990	NM_006771.4(KRT38):c.101C>T (p.Pro34Leu)	KRT38 (P34L)	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

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: 47