Related gene-specific medical variations for Gene (Select 3054) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018809	NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2994491	NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2992128	NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2984367	NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2968878	NM_005334.3(HCFC1):c.4497+19G>A	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2963020	NM_005334.3(HCFC1):c.4497+16G>A	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2961461	NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)	LOC130068842, HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2906515	NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2906010	NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2879806	NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2878135	NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2845890	NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2806761	NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)	HCFC1, LOC130068842 (S1477C)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2799623	NM_005334.3(HCFC1):c.4497+16G>T	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2784583	NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2770240	NM_005334.3(HCFC1):c.4497+9C>T	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2745710	NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)	HCFC1, LOC130068842 (T1473M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2718972	NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2689199	NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)	HCFC1 (N378S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2689198	NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)	HCFC1 (A1336T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2689197	NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)	HCFC1 (S1470R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2672106	NM_005334.3(HCFC1):c.1456G>C (p.Val486Leu)	HCFC1 (V486L)	Single nucleotide variant (missense variant)	X-linked intellectual disability	GUncertain significance
Select item 2432378	NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)	HCFC1 (V1768M +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432377	NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)	HCFC1, LOC130068842 (P1492L)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
Select item 2432373	NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)	HCFC1 (T1540S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432372	NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)	HCFC1 (V1769M +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432371	NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)	HCFC1 (T1327M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432369	NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)	HCFC1 (R1355H)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432368	NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)	HCFC1 (G264R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432367	NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2429583	NM_005334.3(HCFC1):c.4445G>A (p.Arg1482Gln)	HCFC1, LOC130068842 (R1482Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313045	NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)	HCFC1, LOC130068842 (P1494L)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
Select item 2194946	NM_005334.3(HCFC1):c.4497+18C>T	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2136311	NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)	HCFC1 (A115T)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 2136310	NM_005334.3(HCFC1):c.307T>C (p.Tyr103His)	HCFC1 (Y103H)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 2136307	NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu)	HCFC1 (Q68E)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 2101446	NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2021870	NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 1676380	NM_005334.3(HCFC1):c.1894A>G (p.Ile632Val)	HCFC1 (I632V)	Single nucleotide variant	not provided	GUncertain significance
Select item 1428580	NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)	HCFC1, LOC130068842 (T1473A)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1330248	NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)	HCFC1 (A897V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1240591	NM_005334.3(HCFC1):c.4497+138C>T	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 996880	NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)	HCFC1 (R1244C)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 996831	NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)	HCFC1 (G1086D)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 936621	NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)	HCFC1, LOC130068842 (T1475A)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 872509	NM_005334.3(HCFC1):c.2555G>T (p.Gly852Val)	HCFC1 (G852V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807851	NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met)	HCFC1, LOC130068842 (V1476M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 807850	NM_005334.3(HCFC1):c.4497+4A>G	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 618677	NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=)	HCFC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 382802	NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)	HCFC1, LOC130068842 (T1481M)	Single nucleotide variant (missense variant)	HCFC1-related disorder +2 more	GBenign/Likely benign
Select item 381428	NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)	HCFC1, LOC130068842	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign
Select item 373423	NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)	HCFC1, LOC130068842 (P1492R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 235485	NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys)	HCFC1 (G1792C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 53