"Blueprint Genetics"[submitter] AND "LOC126805793"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438098	NM_000350.3(ABCA4):c.5018+5G>A	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99338	NM_000350.3(ABCA4):c.5018+2T>C	ABCA4, LOC126805793	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866304	NM_000350.3(ABCA4):c.4966G>T (p.Val1656Phe)	ABCA4, LOC126805793 (V1656F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 99332	NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	ABCA4, LOC126805793 (S1642R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 298232	NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)	ABCA4, LOC126805793 (S1642I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +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 99329	NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)	ABCA4, LOC126805793 (A1637T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 866120	NM_000350.3(ABCA4):c.4880del (p.Leu1627fs)	ABCA4, LOC126805793 (L1627fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812203	NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	ABCA4, LOC126805793 (W1618C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99325	NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter)	ABCA4, LOC126805793 (W1618* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 866589	NM_000350.3(ABCA4):c.4849G>A (p.Val1617Met)	ABCA4, LOC126805793 (V1617M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866320	NM_000350.3(ABCA4):c.4849-1G>A	ABCA4, LOC126805793	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 853057	NM_000350.3(ABCA4):c.4848+1G>A	ABCA4, LOC126805793	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99323	NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)	ABCA4, LOC126805793 (D1613fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 236122	NM_000350.3(ABCA4):c.4773+3A>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 866944	NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 866045	NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)	ABCA4, LOC126805793 (V1589M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 866198	NM_000350.3(ABCA4):c.4715_4718dup (p.Glu1574fs)	ABCA4, LOC126805793 (E1574fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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
Select item 99311	NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	ABCA4, LOC126805793 (I1562T +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +7 more	GConflicting classifications of pathogenicity
Select item 866119	NM_000350.3(ABCA4):c.4676G>A (p.Gly1559Glu)	ABCA4, LOC126805793 (G1559E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 24