"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126805794" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298245	NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1])	ABCA4, LOC126805794	Deletion (inframe_deletion +1 more)	Cone-Rod Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 298246	NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 136241	NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 99239	NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	ABCA4, LOC126805794 (T1253M +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 501982	NM_000350.3(ABCA4):c.3755A>T (p.Glu1252Val)	ABCA4, LOC126805794 (E1252V +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +1 more	GUncertain significance
Select item 298247	NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly)	ABCA4, LOC126805794 (C1224G +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GUncertain significance
Select item 143075	NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)	LOC126805794, ABCA4 (M1209T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +7 more	GBenign/Likely benign
Select item 497057	NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	ABCA4, LOC126805794 (G1203E +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity