"GeneDx"[submitter] AND "SPATA7"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 143153	NM_018418.5(SPATA7):c.20_23delTCAG	SPATA7	Deletion (splice acceptor variant)	Leber congenital amaurosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 30806	NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SPATA7 (R85* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 3 +3 more	GPathogenic/Likely pathogenic
Select item 314778	NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)	SPATA7 (Q95R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +3 more	GBenign/Likely benign
Select item 314779	NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)	SPATA7 (F119L +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +3 more	GBenign/Likely benign
Select item 962820	NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu)	SPATA7 (P129L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 314782	NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)	SPATA7 (S165N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 886685	NM_018418.5(SPATA7):c.890A>T (p.Asp297Val)	SPATA7 (D297V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +3 more	GUncertain significance
Select item 421703	NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr)	SPATA7 (C308Y +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 314785	NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu)	SPATA7 (G324E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 1307322	NM_018418.5(SPATA7):c.1029-1G>T	SPATA7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 167716	NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)	SPATA7 (M345V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1307323	NM_018418.5(SPATA7):c.1035G>A (p.Met345Ile)	SPATA7 (M313I +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 939148	NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys)	SPATA7 (R355K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489379	NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)	SPATA7 (R391* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 3 +2 more	GPathogenic
Select item 1397	NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	SPATA7 (R395* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 3 +3 more	GPathogenic/Likely pathogenic
Select item 421702	NM_018418.5(SPATA7):c.1238A>G (p.His413Arg)	SPATA7 (H413R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 503686	NM_018418.5(SPATA7):c.1373del (p.Val458fs)	SPATA7 (V426fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 314790	NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln)	SPATA7 (R534Q +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +4 more	GBenign/Likely benign