c.1486-3 C>G|1486-3 C>G - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288450	NM_001365951.3(KIF1B):c.4594C>G (p.Pro1532Ala)	KIF1B (P1486A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602572	NM_004388.3(CTBS):c.169G>C (p.Asp57His)	CTBS, LOC129930843 (D57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214140	NM_004388.3(CTBS):c.62G>C (p.Gly21Ala)	CTBS (G21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614457	NM_004388.3(CTBS):c.20G>C (p.Arg7Pro)	CTBS (R7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536613	NM_006615.3(CAPN9):c.267C>G (p.Ile89Met)	CAPN9 (I89M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330781	NM_006615.3(CAPN9):c.288C>G (p.Asp96Glu)	CAPN9 (D96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263244	NM_006615.3(CAPN9):c.1969C>G (p.Arg657Gly)	CAPN9 (R631G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136564	NM_004341.5(CAD):c.1486C>G (p.Arg496Gly)	CAD (R496G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 649404	NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu)	DCTN1 (V476L +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +4 more	GUncertain significance
Select item 1421745	NM_002299.4(LCT):c.4458G>C (p.Gln1486His)	LCT (Q1486H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543628	NM_207359.3(GADL1):c.1486G>C (p.Val496Leu)	GADL1 (V496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620013	NM_130808.3(CPNE4):c.1486G>C (p.Glu496Gln)	CPNE4 (E383Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333039	NM_032709.3(PYROXD2):c.1486G>C (p.Asp496His)	PYROXD2 (D496H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301218	NM_001351169.2(NT5C2):c.1486G>C (p.Asp496His)	CNNM2, NT5C2 (D305H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109617	NM_001040694.2(INCENP):c.1486C>G (p.Leu496Val)	INCENP (L496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161600	NM_001198950.3(MYO16):c.4457C>G (p.Pro1486Arg)	MYO16 (P1464R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599341	NM_025233.7(COASY):c.1486-3C>G	COASY	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 12	GPathogenic/Likely pathogenic
Select item 2045056	NM_005883.3(APC2):c.4456C>G (p.Arg1486Gly)	APC2 (R1485G +1 more)	Single nucleotide variant (missense variant)	APC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1000015	NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro)	SNTA1 (A496P)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 3271963	NM_153834.4(ADGRG4):c.4457C>G (p.Thr1486Ser)	ADGRG4 (T1486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20