ClinVar for Gene (Select 3054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381403	NM_005334.3(HCFC1):c.4498-10C>T	HCFC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3377825	NM_005334.3(HCFC1):c.5332G>A (p.Ala1778Thr)	HCFC1 (A1778T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376492	NM_005334.3(HCFC1):c.5003G>C (p.Gly1668Ala)	HCFC1 (G1668A +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 3375976	NM_005334.3(HCFC1):c.3842C>A (p.Pro1281His)	HCFC1 (P1281H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372199	NM_005334.3(HCFC1):c.5615G>A (p.Cys1872Tyr)	HCFC1 (C1872Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372075	NM_005334.3(HCFC1):c.1447G>A (p.Val483Ile)	HCFC1 (V483I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370004	NM_005334.3(HCFC1):c.2539C>T (p.Arg847Cys)	HCFC1 (R847C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369339	NM_005334.3(HCFC1):c.3220G>A (p.Val1074Ile)	HCFC1 (V1074I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369020	NM_005334.3(HCFC1):c.2695G>A (p.Gly899Ser)	HCFC1 (G899S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368990	NM_005334.3(HCFC1):c.2182G>T (p.Ala728Ser)	HCFC1 (A728S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367618	NM_005334.3(HCFC1):c.3428C>T (p.Thr1143Ile)	HCFC1 (T1143I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366090	NM_005334.3(HCFC1):c.524T>C (p.Ile175Thr)	HCFC1 (I175T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364955	NM_005334.3(HCFC1):c.1753G>A (p.Gly585Ser)	HCFC1 (G585S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364075	NM_005334.3(HCFC1):c.2512G>A (p.Ala838Thr)	HCFC1 (A838T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364025	NM_005334.3(HCFC1):c.2216C>T (p.Thr739Met)	HCFC1 (T739M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362484	NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)	HCFC1 (D161N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 3360683	NM_005334.3(HCFC1):c.4202C>T (p.Pro1401Leu)	HCFC1 (P1401L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359567	NM_005334.3(HCFC1):c.5593C>T (p.Arg1865Cys)	HCFC1 (R1865C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359497	NM_005334.3(HCFC1):c.1121G>A (p.Arg374His)	HCFC1 (R374H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359456	NM_005334.3(HCFC1):c.1480G>C (p.Ala494Pro)	HCFC1 (A494P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349747	NM_005334.3(HCFC1):c.3019G>A (p.Gly1007Ser)	HCFC1 (G1007S)	Single nucleotide variant (missense variant)	HCFC1-related disorder	GUncertain significance
Select item 3349311	NM_005334.3(HCFC1):c.2324C>T (p.Ser775Leu)	HCFC1 (S775L)	Single nucleotide variant (missense variant)	HCFC1-related disorder	GUncertain significance
Select item 3344180	NM_005334.3(HCFC1):c.556G>A (p.Ala186Thr)	HCFC1 (A186T)	Single nucleotide variant (missense variant)	HCFC1-related disorder	GUncertain significance
Select item 3343919	NM_005334.3(HCFC1):c.1285G>A (p.Ala429Thr)	HCFC1 (A429T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343507	NM_005334.3(HCFC1):c.200A>G (p.Asn67Ser)	HCFC1 (N67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343105	NM_005334.3(HCFC1):c.5167C>G (p.Leu1723Val)	HCFC1 (L1723V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340987	NM_005334.3(HCFC1):c.4445_4446delinsTT (p.Arg1482Leu)	HCFC1, LOC130068842 (R1482L)	Indel (missense variant)	not provided	GUncertain significance
Select item 3340208	NM_005334.3(HCFC1):c.1250T>C (p.Val417Ala)	HCFC1 (V417A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336313	NM_005334.3(HCFC1):c.4334-16C>G	HCFC1	Single nucleotide variant (intron variant)	not specified	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 3283602	NM_005334.3(HCFC1):c.1880C>T (p.Thr627Met)	HCFC1 (T627M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3283600	NM_005334.3(HCFC1):c.4088C>T (p.Thr1363Ile)	HCFC1 (T1363I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3283597	NM_005334.3(HCFC1):c.32C>T (p.Pro11Leu)	HCFC1 (P11L)	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 3257515	NM_005334.3(HCFC1):c.3355A>G (p.Thr1119Ala)	HCFC1 (T1119A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254782	NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)	HCFC1 (G1677D +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 3252119	NM_005334.3(HCFC1):c.4737G>T (p.Gln1579His)	HCFC1 (Q1579H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251313	NM_005334.3(HCFC1):c.4335C>T (p.Asp1445=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3251161	NM_005334.3(HCFC1):c.4022G>C (p.Gly1341Ala)	HCFC1 (G1341A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245014	NC_000023.10:g.(?_152482081)_(153416424_?)del	ABCD1, ARHGAP4 +27 more	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234572	NM_005334.3(HCFC1):c.3959C>T (p.Pro1320Leu)	HCFC1 (P1320L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
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 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 3104456	NM_005334.3(HCFC1):c.4039G>A (p.Gly1347Ser)	HCFC1 (G1347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3104453	NM_005334.3(HCFC1):c.3694C>T (p.Arg1232Cys)	HCFC1 (R1232C)	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 3104451	NM_005334.3(HCFC1):c.1357C>G (p.Pro453Ala)	HCFC1 (P453A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3063571	NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)	HCFC1 (A1928T +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 3062554	GRCh37/hg19 Xq28(chrX:153200064-153624564)	EMD, FLNA +11 more	Copy number gain	not specified	GPathogenic
Select item 3062535	GRCh37/hg19 Xq28(chrX:153180240-153421839)	ARHGAP4, HCFC1 +6 more	Copy number gain	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3062162	NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)	HCFC1 (S1902N +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely pathogenic
Select item 3047519	NM_005334.3(HCFC1):c.2353+2_2353+3insG	HCFC1	Insertion (splice donor variant)	HCFC1-related disorder	GLikely benign
Select item 3026725	NM_005334.3(HCFC1):c.4179GGC[4] (p.Ala1396_Pro1397insAla)	HCFC1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3025810	NM_005334.3(HCFC1):c.1803+6C>T	HCFC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3023730	NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3022990	NM_005334.3(HCFC1):c.1605+18G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3022390	NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)	HCFC1 (C1289W)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3022114	NM_005334.3(HCFC1):c.2353+15C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3022064	NM_005334.3(HCFC1):c.905-9C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3021400	NM_005334.3(HCFC1):c.6005-13C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3020493	NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3020292	NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3020268	NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3020038	NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3019601	NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)	HCFC1 (Q1512L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3019170	NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3019108	NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3018981	NM_005334.3(HCFC1):c.4943-18C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3018871	NM_005334.3(HCFC1):c.5260+16C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3018819	NM_005334.3(HCFC1):c.2856+17G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
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 3018769	NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)	HCFC1 (R1133Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 3018680	NM_005334.3(HCFC1):c.4333+9A>G	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3018524	NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3018136	NM_005334.3(HCFC1):c.306G>A (p.Glu102=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3018070	NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3017973	NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3017754	NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3017391	NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3017336	NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3017117	NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3017022	NM_005334.3(HCFC1):c.1803+13del	HCFC1	Deletion (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3016984	NM_005334.3(HCFC1):c.789C>T (p.Ile263=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3016624	NM_005334.3(HCFC1):c.904+13C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3016471	NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3016413	NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3016404	NM_005334.3(HCFC1):c.2496+18G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3015967	NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign

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