KRT3[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 71

	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 725616	NM_057088.3(KRT3):c.1831G>A (p.Gly611Ser)	KRT3 (G611S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2726307	NM_057088.3(KRT3):c.1827C>T (p.Asn609=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715133	NM_057088.3(KRT3):c.1818G>A (p.Ser606=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2059950	NM_057088.3(KRT3):c.1802G>A (p.Gly601Asp)	KRT3 (G601D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 768550	NM_057088.3(KRT3):c.1741_1761dup (p.Ser581_Ser587dup)	KRT3	Duplication (inframe_insertion)	not provided	GBenign
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 718343	NM_057088.3(KRT3):c.1710T>C (p.Gly570=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2702151	NM_057088.3(KRT3):c.1653A>G (p.Gly551=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3044013	NM_057088.3(KRT3):c.1571-5C>G	KRT3	Single nucleotide variant (intron variant)	KRT3-related disorder	GBenign
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 3042885	NM_057088.3(KRT3):c.1161C>G (p.Ala387=)	KRT3	Single nucleotide variant (synonymous variant)	KRT3-related disorder	GLikely benign
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 1665660	NM_057088.3(KRT3):c.1123C>G (p.Arg375Gly)	KRT3 (R375G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1593897	NM_057088.3(KRT3):c.1089C>T (p.Arg363=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3039603	NM_057088.3(KRT3):c.1017C>T (p.Tyr339=)	KRT3	Single nucleotide variant (synonymous variant)	KRT3-related disorder	GLikely benign
Select item 726602	NM_057088.3(KRT3):c.996C>T (p.Ile332=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776707	NM_057088.3(KRT3):c.986T>C (p.Ile329Thr)	KRT3 (I329T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3032771	NM_057088.3(KRT3):c.866+7G>C	KRT3	Single nucleotide variant (intron variant)	KRT3-related disorder	GLikely benign
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 2643034	NM_057088.3(KRT3):c.775C>T (p.Arg259Trp)	KRT3 (R259W)	Single nucleotide variant (missense variant)	not provided	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 730710	NM_057088.3(KRT3):c.706C>G (p.Gln236Glu)	KRT3 (Q236E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3049215	NM_057088.3(KRT3):c.595C>T (p.Arg199Trp)	KRT3 (R199W)	Single nucleotide variant (missense variant)	KRT3-related disorder	GLikely benign
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 737049	NM_057088.3(KRT3):c.423T>A (p.Gly141=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2006125	NM_057088.3(KRT3):c.378AGGGGCTGGTGGCTTTGG[1] (p.122AGGFGG[2])	KRT3	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 783663	NM_057088.3(KRT3):c.315T>C (p.Phe105=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 787397	NM_057088.3(KRT3):c.250C>T (p.Arg84Trp)	KRT3 (R84W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2049474	NM_057088.3(KRT3):c.219C>T (p.Gly73=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2860445	NM_057088.3(KRT3):c.208G>A (p.Val70Met)	KRT3 (V70M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2719163	NM_057088.3(KRT3):c.192G>A (p.Lys64=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1547614	NM_057088.3(KRT3):c.131G>C (p.Gly44Ala)	KRT3 (G44A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 998092	NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)	KRT3 (G44T)	Indel (missense variant)	Congenital hereditary endothelial dystrophy of cornea	GUncertain significance
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 747711	NM_057088.3(KRT3):c.117C>T (p.Gly39=)	KRT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042004	NM_057088.3(KRT3):c.93T>C (p.Cys31=)	KRT3	Single nucleotide variant (synonymous variant)	KRT3-related disorder +1 more	GBenign
Select item 3050237	NM_057088.3(KRT3):c.72C>T (p.Ser24=)	KRT3	Single nucleotide variant (synonymous variant)	KRT3-related disorder	GLikely benign
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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71