ClinVar for MedGen (Select 167111) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1064

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
Select item 3015960	NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)	HCFC1 (M1098V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3015953	NM_005334.3(HCFC1):c.927C>T (p.Ile309=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3015630	NM_005334.3(HCFC1):c.978C>T (p.Cys326=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3015358	NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3015338	NM_005334.3(HCFC1):c.5261-4C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3015136	NM_005334.3(HCFC1):c.2354-20G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3015090	NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3015067	NM_005334.3(HCFC1):c.513T>C (p.Asn171=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3014397	NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3014371	NM_005334.3(HCFC1):c.2496+17C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3014256	NM_005334.3(HCFC1):c.402G>A (p.Pro134=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3013890	NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)	HCFC1 (T1750M +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3013589	NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3013408	NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)	HCFC1 (S1458N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3012936	NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3012730	NM_005334.3(HCFC1):c.2857-18C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3012333	NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3011071	NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3009988	NM_005334.3(HCFC1):c.1444+18G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3009940	NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)	HCFC1 (A1745V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3009845	NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)	HCFC1 (V516M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3009842	NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3009757	NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3009396	NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3009138	NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3008841	NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3008819	NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3008652	NM_005334.3(HCFC1):c.4334-11C>G	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3008473	NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3008076	NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)	HCFC1 (S1164T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3007960	NM_005334.3(HCFC1):c.2856+8A>G	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3007821	NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3006616	NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3005943	NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3005523	NM_005334.3(HCFC1):c.5380-19C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3004645	NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3004434	NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3004115	NM_005334.3(HCFC1):c.193+15C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3001970	NM_005334.3(HCFC1):c.5704-13C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3001963	NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3001869	NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3001118	NM_005334.3(HCFC1):c.525C>T (p.Ile175=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 3000818	NM_005334.3(HCFC1):c.1422G>A (p.Val474=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3000817	NM_005334.3(HCFC1):c.2029-14C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3000272	NM_005334.3(HCFC1):c.2547G>T (p.Val849=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3000254	NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)	HCFC1 (R1073Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 3000045	NM_005334.3(HCFC1):c.6005-11G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2999027	NM_005334.3(HCFC1):c.904+16G>A	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2998963	NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2998534	NM_005334.3(HCFC1):c.423C>T (p.Ser141=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2998490	NM_005334.3(HCFC1):c.543C>T (p.Gly181=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2998230	NM_005334.3(HCFC1):c.5379+10del	HCFC1	Deletion (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2998129	NM_005334.3(HCFC1):c.2496+12C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2997796	NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)	HCFC1 (E1113K)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2997356	NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)	HCFC1 (V1464M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2997305	NM_005334.3(HCFC1):c.713-10CT[2]	HCFC1	Microsatellite (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2997301	NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2997135	NM_005334.3(HCFC1):c.703C>T (p.Leu235=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2997078	NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2996511	NM_005334.3(HCFC1):c.261C>T (p.Phe87=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign
Select item 2995986	NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)	HCFC1 (R1169C)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2995638	NM_005334.3(HCFC1):c.904+20C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
Select item 2994969	NM_005334.3(HCFC1):c.1085-6C>T	HCFC1	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely benign
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

<< First< Prev

Page of 11