"Ambry Genetics"[submitter] AND "KRT3"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116439	NM_057088.3(KRT3):c.1853A>T (p.Gln618Leu)	KRT3 (Q618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405991	NM_057088.3(KRT3):c.1753G>A (p.Gly585Ser)	KRT3 (G585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619353	NM_057088.3(KRT3):c.1708G>A (p.Gly570Ser)	KRT3 (G570S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289403	NM_057088.3(KRT3):c.1697G>C (p.Arg566Pro)	KRT3 (R566P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271656	NM_057088.3(KRT3):c.1670G>A (p.Gly557Asp)	KRT3 (G557D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334250	NM_057088.3(KRT3):c.1664G>T (p.Ser555Ile)	KRT3 (S555I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371167	NM_057088.3(KRT3):c.1661T>G (p.Phe554Cys)	KRT3 (F554C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271069	NM_057088.3(KRT3):c.1657G>A (p.Gly553Ser)	KRT3 (G553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204788	NM_057088.3(KRT3):c.1640G>A (p.Gly547Asp)	KRT3 (G547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535281	NM_057088.3(KRT3):c.1637T>C (p.Met546Thr)	KRT3 (M546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289398	NM_057088.3(KRT3):c.1627G>C (p.Gly543Arg)	KRT3 (G543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116437	NM_057088.3(KRT3):c.1574T>C (p.Val525Ala)	KRT3 (V525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289402	NM_057088.3(KRT3):c.1507C>T (p.Arg503Cys)	KRT3, LOC126861527 (R503C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556621	NM_057088.3(KRT3):c.1498G>A (p.Ala500Thr)	KRT3, LOC126861527 (A500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116436	NM_057088.3(KRT3):c.1489G>A (p.Val497Met)	KRT3, LOC126861527 (V497M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271909	NM_057088.3(KRT3):c.1348G>C (p.Glu450Gln)	KRT3, LOC126861527 (E450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546928	NM_057088.3(KRT3):c.1328A>G (p.Gln443Arg)	KRT3, LOC126861527 (Q443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116435	NM_057088.3(KRT3):c.1277A>G (p.Gln426Arg)	KRT3, LOC126861527 (Q426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346278	NM_057088.3(KRT3):c.1208C>T (p.Thr403Met)	KRT3, LOC126861527 (T403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553092	NM_057088.3(KRT3):c.1162G>A (p.Glu388Lys)	KRT3 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116433	NM_057088.3(KRT3):c.1124G>A (p.Arg375His)	KRT3 (R375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349263	NM_057088.3(KRT3):c.1102G>T (p.Asp368Tyr)	KRT3 (D368Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459748	NM_057088.3(KRT3):c.1049T>C (p.Ile350Thr)	KRT3 (I350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289407	NM_057088.3(KRT3):c.1033C>G (p.Gln345Glu)	KRT3 (Q345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401696	NM_057088.3(KRT3):c.974T>C (p.Val325Ala)	KRT3 (V325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289399	NM_057088.3(KRT3):c.896C>T (p.Ala299Val)	KRT3 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509124	NM_057088.3(KRT3):c.890G>A (p.Arg297His)	KRT3 (R297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289405	NM_057088.3(KRT3):c.836T>C (p.Met279Thr)	KRT3 (M279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116441	NM_057088.3(KRT3):c.812G>A (p.Arg271His)	KRT3 (R271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487094	NM_057088.3(KRT3):c.780C>A (p.Ser260Arg)	KRT3 (S260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259940	NM_057088.3(KRT3):c.742G>A (p.Glu248Lys)	KRT3 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309354	NM_057088.3(KRT3):c.640G>A (p.Asp214Asn)	KRT3 (D214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354544	NM_057088.3(KRT3):c.574G>T (p.Gly192Trp)	KRT3 (G192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289400	NM_057088.3(KRT3):c.562G>A (p.Asp188Asn)	KRT3 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116440	NM_057088.3(KRT3):c.449G>T (p.Gly150Val)	KRT3 (G150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464836	NM_057088.3(KRT3):c.283G>A (p.Gly95Ser)	KRT3 (G95S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261123	NM_057088.3(KRT3):c.263C>A (p.Ala88Asp)	KRT3 (A88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470943	NM_057088.3(KRT3):c.226C>T (p.Arg76Trp)	KRT3 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299761	NM_057088.3(KRT3):c.221G>T (p.Gly74Val)	KRT3 (G74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590893	NM_057088.3(KRT3):c.220G>A (p.Gly74Ser)	KRT3 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116438	NM_057088.3(KRT3):c.184G>A (p.Gly62Ser)	KRT3 (G62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2740904	NM_057088.3(KRT3):c.136C>T (p.Arg46Trp)	KRT3 (R46W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3289406	NM_057088.3(KRT3):c.124G>A (p.Ala42Thr)	KRT3 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2718643	NM_057088.3(KRT3):c.56G>A (p.Arg19His)	KRT3 (R19H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2252310	NM_057088.3(KRT3):c.55C>G (p.Arg19Gly)	KRT3 (R19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508038	NM_057088.3(KRT3):c.39C>G (p.Ser13Arg)	KRT3 (S13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289404	NM_057088.3(KRT3):c.34G>A (p.Gly12Arg)	KRT3 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409951	NM_057088.3(KRT3):c.26C>T (p.Ser9Phe)	KRT3 (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 48