"Ocular Genomics Institute, Massachusetts Eye and Ear"[submitter] AND - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812336	NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	INPP5E (R620Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 426904	NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)	INPP5E (R621W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1065695	NM_019892.6(INPP5E):c.1800C>G (p.Asp600Glu)	INPP5E (D599E +1 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy	GUncertain significance
Select item 1065696	NM_019892.6(INPP5E):c.[1787G>C;746C>T]	INPP5E (R596T +2 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy	GLikely pathogenic
Select item 591970	NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)	INPP5E (R596T +1 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 217656	NM_019892.6(INPP5E):c.1760del (p.Val587fs)	INPP5E (V586fs +1 more)	Deletion (frameshift variant)	Rod-cone dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 217657	NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)	INPP5E (R585H +1 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1065659	NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)	INPP5E (R556H +1 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy +1 more	GLikely pathogenic
Select item 217660	NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)	INPP5E (P526L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 391693	NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys)	INPP5E (R486C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 866269	NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	INPP5E (R467C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 914436	NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)	INPP5E (V464I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1065766	NM_019892.6(INPP5E):c.1267T>C (p.Ser423Pro)	INPP5E (S423P)	Single nucleotide variant (missense variant)	Rod-cone dystrophy +1 more	GUncertain significance
Select item 1022901	NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu)	INPP5E (S365L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1065716	NM_019892.6(INPP5E):c.943_965dup (p.Leu323fs)	INPP5E (L323fs)	Duplication (frameshift variant)	Rod-cone dystrophy	GLikely pathogenic
Select item 1065697	NM_019892.6(INPP5E):c.914C>T (p.Thr305Ile)	INPP5E (T305I)	Single nucleotide variant (missense variant)	Rod-cone dystrophy	GUncertain significance
Select item 1065767	NM_019892.6(INPP5E):c.907G>T (p.Val303Leu)	INPP5E (V303L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1065823	NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)	INPP5E (S249F)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 964895	NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer)	INPP5E	Duplication (frameshift variant)	Rod-cone dystrophy +1 more	GPathogenic/Likely pathogenic