"Revvity Omics, Revvity"[submitter] AND "HCFC1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1446249	NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)	HCFC1 (N1731S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2432375	NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)	HCFC1 (P1576Q +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	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 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 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 1696268	NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)	HCFC1 (T1459I)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 2432370	NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)	HCFC1 (A1236V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
Select item 1352783	NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)	HCFC1 (R1204H)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2234714	NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)	HCFC1 (R1169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841571	NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)	HCFC1 (Q1165H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432376	NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)	HCFC1 (T1087S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 2053803	NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)	HCFC1 (T991S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GConflicting classifications of pathogenicity
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 1698270	NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)	HCFC1 (R344H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689200	NM_005334.3(HCFC1):c.939A>G (p.Thr313=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GConflicting classifications of pathogenicity
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

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Items: 22