"Eurofins Ntd Llc (ga)"[submitter] AND "LOC126805793"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289420	NM_000350.3(ABCA4):c.4947del (p.Glu1650fs)	LOC126805793, ABCA4 (E1650fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
Select item 502461	NM_000350.3(ABCA4):c.4900G>T (p.Ala1634Ser)	ABCA4, LOC126805793 (A1634S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99319	NM_000350.3(ABCA4):c.4773+48C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Retinitis pigmentosa 19 +5 more	GBenign
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	Macular degeneration +7 more	GConflicting classifications of pathogenicity
Select item 196811	NM_000350.3(ABCA4):c.4754G>A (p.Arg1585Gln)	ABCA4, LOC126805793 (R1585Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502045	NM_000350.3(ABCA4):c.4730T>C (p.Val1577Ala)	ABCA4, LOC126805793 (V1577A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497936	NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)	ABCA4, LOC126805793 (T1572M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance