Related gene-specific medical variations for Gene (Select 56623) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245127	NC_000009.11:g.(?_139333040)_(139333871_?)dup	INPP5E	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 3065863	NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)	INPP5E (R480H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GLikely pathogenic
Select item 3065009	NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)	INPP5E (E46*)	Single nucleotide variant (nonsense)	Joubert syndrome 1	GLikely pathogenic
Select item 1324581	NM_019892.6(INPP5E):c.1024T>C (p.Cys342Arg)	INPP5E (C342R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 931224	NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)	INPP5E (D437H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 931210	NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)	INPP5E (Q632* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 1	GLikely pathogenic
Select item 867111	NM_019892.6(INPP5E):c.1759G>A (p.Val587Met)	INPP5E (V586M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866732	NM_019892.6(INPP5E):c.1672G>T (p.Val558Phe)	INPP5E (V558F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 591466	NM_019892.6(INPP5E):c.1196C>G (p.Ser399Cys)	INPP5E (S399C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591373	NM_019892.6(INPP5E):c.443_446del (p.Ser148fs)	INPP5E (S148fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591125	NM_019892.6(INPP5E):c.877T>G (p.Tyr293Asp)	INPP5E (Y293D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377184	NM_019892.6(INPP5E):c.279G>T (p.Arg93Ser)	INPP5E (R93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261198	NM_019892.6(INPP5E):c.1549+40G>A	INPP5E	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261190	NM_019892.6(INPP5E):c.1280-11T>C	INPP5E	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 217664	NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)	INPP5E (S417P)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217658	NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)	INPP5E (Q632fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic