3850[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 149659	GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3	KRT18, KRT3 +15 more	Copy number gain	See cases	GLikely benign
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	GLikely 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 2033335	NM_057088.3(KRT3):c.1570+2dup	KRT3, LOC126861527	Duplication (splice donor variant)	not provided	GBenign
Select item 709653	NM_057088.3(KRT3):c.1535+6C>T	KRT3, LOC126861527	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628033	NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)	KRT3, LOC126861527 (E509D)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GLikely pathogenic
Select item 14632	NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys)	KRT3, LOC126861527 (E509K)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GPathogenic
Select item 66749	NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)	KRT3, LOC126861527 (R503P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GPathogenic
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 66748	NM_057088.3(KRT3):c.1493A>T (p.Glu498Val)	KRT3, LOC126861527 (E498V)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GPathogenic
Select item 1213856	NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys)	KRT3, LOC126861527 (E498K)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 2	GLikely pathogenic
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 734361	NM_057088.3(KRT3):c.1342G>A (p.Glu448Lys)	KRT3, LOC126861527 (E448K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2006123	NM_057088.3(KRT3):c.1297G>A (p.Glu433Lys)	KRT3, LOC126861527 (E433K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3056671	NM_057088.3(KRT3):c.1248C>T (p.Ser416=)	KRT3, LOC126861527	Single nucleotide variant (synonymous variant)	KRT3-related disorder	GLikely benign
Select item 3039625	NM_057088.3(KRT3):c.1224G>A (p.Gly408=)	KRT3, LOC126861527	Single nucleotide variant (synonymous variant)	KRT3-related disorder	GLikely benign
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 1987392	NM_057088.3(KRT3):c.1189-11C>T	KRT3, LOC126861527	Single nucleotide variant (intron variant)	not provided	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	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)	not provided	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
Select item 1808850	GRCh37/hg19 12q13.13(chr12:52914324-53250644)x3	KRT1, KRT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815527	GRCh37/hg19 12q13.13(chr12:52914323-53238344)x3	KRT73, KRT78 +10 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 100