ClinVar (all) for Orgtrack (Select 508163) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577488	NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)	COL4A1 (G326S)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2577487	NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)	COL5A2 (G1455E)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2445999	NM_015175.3(NBEAL2):c.7878+2T>A	NBEAL2	Single nucleotide variant (splice donor variant)	Keratoconus	GUncertain significance
Select item 2445998	NM_001320714.2(DOP1B):c.1227_1228del (p.Gln410fs)	DOP1B (Q410fs)	Deletion (frameshift variant)	Keratoconus	GUncertain significance
Select item 2445997	NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)	EML6 (W843L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2445980	NM_000875.5(IGF1R):c.1447G>A (p.Gly483Arg)	IGF1R (G483R)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2445979	NM_004838.4(HOMER3):c.434G>A (p.Ser145Asn)	HOMER3 (S145N +1 more)	Single nucleotide variant (missense variant +1 more)	Keratoconus 5	GUncertain significance
Select item 2442791	NM_000691.5(ALDH3A1):c.703G>A (p.Gly235Arg)	ALDH3A1 (G162R +1 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2430291	NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)	TSC1 (S157G +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 1684492	NM_000260.4(MYO7A):c.6238-1G>C	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1175370	NM_000358.3(TGFBI):c.1406G>A (p.Arg469His)	TGFBI (R469H)	Single nucleotide variant (missense variant)	Granular corneal dystrophy	GLikely pathogenic
Select item 459803	NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	PLOD1 (E37K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 225320	NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	COL1A1 (A1256T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GConflicting classifications of pathogenicity
Select item 43294	NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)	MYO7A (R1883Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GPathogenic/Likely pathogenic