LOC126861527[gene] - ClinVar

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Items: 23

	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 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 +1 more	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

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Items: 23