Related gene-specific medical variations for Gene (Select 3710) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360604	NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)	ITPR3 (D1968V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3111816	NM_002224.4(ITPR3):c.7817G>A (p.Arg2606Gln)	ITPR3, LOC126859658 (R2606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111815	NM_002224.4(ITPR3):c.7816C>G (p.Arg2606Gly)	ITPR3, LOC126859658 (R2606G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068221	NM_002224.4(ITPR3):c.730T>C (p.Phe244Leu)	ITPR3 (F244L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, type 1J	GUncertain significance
Select item 2689266	NM_002224.4(ITPR3):c.5138-8G>A	ITPR3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, demyelinating, type 1J	GUncertain significance
Select item 2580899	NM_002224.4(ITPR3):c.2749A>C (p.Ile917Leu)	ITPR3 (I917L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578999	NM_002224.4(ITPR3):c.7802G>A (p.Trp2601Ter)	ITPR3, LOC126859658 (W2601*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1293591	NM_002224.4(ITPR3):c.7786-34C>T	ITPR3, LOC126859658	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238146	NM_002224.4(ITPR3):c.7947+193G>A	ITPR3, LOC126859658	Single nucleotide variant (intron variant)	not provided	GBenign