"Ambry Genetics"[submitter] AND "HCFC1"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208691	NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg)	HCFC1 (G1954R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2080900	NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)	HCFC1 (T1909S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 2477260	NM_005334.3(HCFC1):c.5477C>T (p.Thr1826Ile)	HCFC1 (T1871I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260409	NM_005334.3(HCFC1):c.5392C>A (p.Pro1798Thr)	HCFC1 (P1843T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965963	NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)	HCFC1 (Q1776H +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GConflicting classifications of pathogenicity
Select item 2614760	NM_005334.3(HCFC1):c.5323C>G (p.Leu1775Val)	HCFC1 (L1775V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521443	NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)	HCFC1 (V1767G)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
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 +2 more	GBenign/Likely benign
Select item 2335242	NM_005334.3(HCFC1):c.5114C>T (p.Ala1705Val)	HCFC1 (A1750V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503794	NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	HCFC1	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 594479	NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala)	HCFC1 (T1661A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2229940	NM_005334.3(HCFC1):c.4907A>G (p.Gln1636Arg)	HCFC1 (Q1636R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1462377	NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)	HCFC1 (A1597T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521664	NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe)	HCFC1 (L1587F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807849	NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)	HCFC1 (Q1579E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 958252	NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)	HCFC1 (T1578I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 709445	NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)	HCFC1 (V1566M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +3 more	GBenign/Likely benign
Select item 2609444	NM_005334.3(HCFC1):c.4658G>A (p.Gly1553Glu)	HCFC1 (G1553E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609443	NM_005334.3(HCFC1):c.4657G>A (p.Gly1553Arg)	HCFC1 (G1553R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370301	NM_005334.3(HCFC1):c.4639G>T (p.Val1547Leu)	HCFC1 (V1591L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1497065	NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)	HCFC1 (T1525I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3104457	NM_005334.3(HCFC1):c.4565C>T (p.Ser1522Leu)	HCFC1 (S1522L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227080	NM_005334.3(HCFC1):c.4550G>T (p.Arg1517Leu)	HCFC1 (R1561L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807850	NM_005334.3(HCFC1):c.4497+4A>G	HCFC1, LOC130068842	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 985877	NM_005334.3(HCFC1):c.4381G>C (p.Gly1461Arg)	HCFC1 (G1461R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283596	NM_005334.3(HCFC1):c.4345G>C (p.Ala1449Pro)	HCFC1 (A1449P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283600	NM_005334.3(HCFC1):c.4088C>T (p.Thr1363Ile)	HCFC1 (T1363I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104456	NM_005334.3(HCFC1):c.4039G>A (p.Gly1347Ser)	HCFC1 (G1347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241323	NM_005334.3(HCFC1):c.4036G>A (p.Glu1346Lys)	HCFC1 (E1346K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284942	NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)	HCFC1 (T1342M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3104455	NM_005334.3(HCFC1):c.4015A>C (p.Asn1339His)	HCFC1 (N1339H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520920	NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile)	HCFC1 (T1334I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450155	NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)	HCFC1 (E1298K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 532002	NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met)	HCFC1 (V1285M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 520867	NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr)	HCFC1 (A1277T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590761	NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)	HCFC1 (R1253H)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 389201	NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)	HCFC1 (R1253C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3283601	NM_005334.3(HCFC1):c.3755C>G (p.Pro1252Arg)	HCFC1 (P1252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596668	NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)	HCFC1 (A1240T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GBenign/Likely benign
Select item 657983	NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)	HCFC1 (R1232H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3104453	NM_005334.3(HCFC1):c.3694C>T (p.Arg1232Cys)	HCFC1 (R1232C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2722146	NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)	HCFC1 (A1230V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 2477374	NM_005334.3(HCFC1):c.3685C>T (p.Pro1229Ser)	HCFC1 (P1229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3283603	NM_005334.3(HCFC1):c.3682C>T (p.Leu1228Phe)	HCFC1 (L1228F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504492	NM_005334.3(HCFC1):c.3681C>G (p.Asp1227Glu)	HCFC1 (D1227E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985408	NM_005334.3(HCFC1):c.3646A>T (p.Ser1216Cys)	HCFC1 (S1216C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1448986	NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)	HCFC1 (G1202R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 663515	NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)	HCFC1 (S1188L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2288736	NM_005334.3(HCFC1):c.3485C>T (p.Ser1162Phe)	HCFC1 (S1162F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620969	NM_005334.3(HCFC1):c.3464C>T (p.Ala1155Val)	HCFC1 (A1155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208779	NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)	HCFC1 (T1119I)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +2 more	GConflicting classifications of pathogenicity
Select item 3283599	NM_005334.3(HCFC1):c.3332C>T (p.Thr1111Ile)	HCFC1 (T1111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2533461	NM_005334.3(HCFC1):c.3238T>C (p.Cys1080Arg)	HCFC1 (C1080R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104452	NM_005334.3(HCFC1):c.2347G>A (p.Ala783Thr)	HCFC1 (A783T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283602	NM_005334.3(HCFC1):c.1880C>T (p.Thr627Met)	HCFC1 (T627M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2914464	NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)	HCFC1 (T586A)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GConflicting classifications of pathogenicity
Select item 2661772	NM_005334.3(HCFC1):c.1616G>A (p.Ser539Asn)	HCFC1 (S539N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 235900	NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)	HCFC1 (A477T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3104451	NM_005334.3(HCFC1):c.1357C>G (p.Pro453Ala)	HCFC1 (P453A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2332048	NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)	HCFC1 (A434T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GLikely benign
Select item 2509682	NM_005334.3(HCFC1):c.1232C>T (p.Ser411Phe)	HCFC1 (S411F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985866	NM_005334.3(HCFC1):c.748G>A (p.Val250Met)	HCFC1 (V250M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 984993	NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)	HCFC1 (T241M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3104458	NM_005334.3(HCFC1):c.505T>C (p.Tyr169His)	HCFC1 (Y169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230188	NM_005334.3(HCFC1):c.349C>T (p.Arg117Trp)	HCFC1 (R117W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283597	NM_005334.3(HCFC1):c.32C>T (p.Pro11Leu)	HCFC1 (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246719	NM_005334.3(HCFC1):c.22_24del (p.Ala8del)	HCFC1 (A8del)	Deletion (inframe_indel +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 70