"PreventionGenetics, part of Exact Sciences"[submitter] AND "HCFC1"[ge - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164700	NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +1 more	GBenign/Likely benign
Select item 710703	NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GBenign
Select item 376762	NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)	HCFC1 (M1806I)	Single nucleotide variant (missense variant)	HCFC1-related condition +2 more	GBenign/Likely benign
Select item 516108	NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)	HCFC1 (N1759S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +3 more	GBenign/Likely benign
Select item 2635816	NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)	HCFC1 (A1705T +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 386087	NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +2 more	GBenign/Likely benign
Select item 167165	NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2432377	NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)	HCFC1, LOC130068842 (P1492L)	Single nucleotide variant (missense variant)	HCFC1-related condition +1 more	GUncertain significance
Select item 382802	NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)	LOC130068842, HCFC1 (T1481M)	Single nucleotide variant (missense variant)	HCFC1-related condition +2 more	GBenign/Likely benign
Select item 728815	NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +1 more	GLikely benign
Select item 709418	NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 377326	NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)	HCFC1 (V1387M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +3 more	GBenign/Likely benign
Select item 1601703	NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 1624708	NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 2750231	NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +1 more	GBenign/Likely benign
Select item 211134	NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2634672	NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 129220	NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)	HCFC1 (N1097T)	Single nucleotide variant (missense variant)	HCFC1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1569278	NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +1 more	GLikely benign
Select item 211132	NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)	HCFC1 (T958A)	Single nucleotide variant (missense variant)	HCFC1-related condition +3 more	GBenign/Likely benign
Select item 390258	NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +2 more	GBenign/Likely benign
Select item 425515	NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)	HCFC1 (G876S)	Single nucleotide variant (missense variant)	HCFC1-related condition +2 more	GBenign/Likely benign
Select item 194519	NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)	HCFC1 (A864T)	Single nucleotide variant (missense variant)	HCFC1-related condition +3 more	GBenign/Likely benign
Select item 728199	NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +2 more	GLikely benign
Select item 382057	NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GBenign
Select item 3047519	NM_005334.3(HCFC1):c.2353+2_2353+3insG	HCFC1	Insertion (splice donor variant)	HCFC1-related condition	GLikely benign
Select item 511698	NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +3 more	GBenign/Likely benign
Select item 798126	NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +1 more	GBenign/Likely benign
Select item 512141	NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +2 more	GLikely benign
Select item 435405	NM_005334.3(HCFC1):c.717C>G (p.Thr239=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GBenign/Likely benign
Select item 2661775	NM_005334.3(HCFC1):c.627C>T (p.Thr209=)	HCFC1	Single nucleotide variant (synonymous variant)	HCFC1-related condition +2 more	GLikely benign
Select item 749223	NM_005334.3(HCFC1):c.504-9C>T	HCFC1	Single nucleotide variant (intron variant)	HCFC1-related condition +1 more	GLikely benign

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Items: 32