ClinVar for MedGen (Select 344420) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 468

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065041	NM_052845.4(MMAB):c.659T>C (p.Leu220Pro)	MMAB (L220P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 3021511	NM_052845.4(MMAB):c.519+16G>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 3003269	NM_052845.4(MMAB):c.565_577del (p.Cys189fs)	MMAB (C189fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2983690	NM_052845.4(MMAB):c.290+19G>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2981391	NM_052845.4(MMAB):c.584+8G>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2975966	NM_052845.4(MMAB):c.645-7C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2970677	NM_052845.4(MMAB):c.348+20C>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2969503	NM_052845.4(MMAB):c.291-5C>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2963872	NM_052845.4(MMAB):c.321C>A (p.Gly107=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2958944	NM_052845.4(MMAB):c.645-16C>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2954625	NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)	MMAB (R186P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2920448	NM_052845.4(MMAB):c.291-18T>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2919160	NM_052845.4(MMAB):c.240C>T (p.Asp80=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2917603	NM_052845.4(MMAB):c.134+14G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2915963	NM_052845.4(MMAB):c.644+17T>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2907113	NM_052845.4(MMAB):c.576C>G (p.Ala192=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2905981	NM_052845.4(MMAB):c.197-12T>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2904316	NM_052845.4(MMAB):c.197-7T>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2904237	NM_052845.4(MMAB):c.197-15C>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2903591	NM_052845.4(MMAB):c.520-18G>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2903573	NM_052845.4(MMAB):c.290+12A>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2902066	NM_052845.4(MMAB):c.421+18G>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2901310	NM_052845.4(MMAB):c.520-20A>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2900852	NM_052845.4(MMAB):c.585-17G>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2900700	NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)	MMAB, MVK (R19*)	Indel (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2899574	NM_052845.4(MMAB):c.519+19T>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2898119	NM_052845.4(MMAB):c.584+12G>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2895664	NM_052845.4(MMAB):c.405C>T (p.Ala135=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2895553	NM_052845.4(MMAB):c.519+13C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2892145	NM_052845.4(MMAB):c.135-12A>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2885560	NM_052845.4(MMAB):c.291-16del	MMAB	Deletion (intron variant)	Methylmalonic aciduria, cblB type	GBenign
Select item 2882866	NM_052845.4(MMAB):c.585-16T>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2882663	NM_052845.4(MMAB):c.645-20CT[6]	MMAB	Microsatellite (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2882217	NM_052845.4(MMAB):c.513C>A (p.Ile171=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2882162	NM_052845.4(MMAB):c.564G>A (p.Val188=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2881986	NM_052845.4(MMAB):c.134+16del	MMAB, MVK	Deletion (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2876018	NM_052845.4(MMAB):c.39G>T (p.Gly13=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2873914	NM_052845.4(MMAB):c.349-6C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2872149	NM_052845.4(MMAB):c.729A>G (p.Pro243=)	MMAB	Single nucleotide variant (non-coding transcript variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2866846	NM_052845.4(MMAB):c.186G>T (p.Thr62=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2865374	NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)	MMAB (Q155*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2863661	NM_052845.4(MMAB):c.291-15C>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2860272	NM_052845.4(MMAB):c.644+7dup	MMAB	Duplication (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2855815	NM_052845.4(MMAB):c.621G>C (p.Ala207=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2853982	NM_052845.4(MMAB):c.421+7C>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2850666	NM_052845.4(MMAB):c.520-15C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2849415	NM_052845.4(MMAB):c.520-19T>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2833156	NM_052845.4(MMAB):c.644+14A>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2828706	NM_052845.4(MMAB):c.349-5C>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2828456	NM_052845.4(MMAB):c.556C>A (p.Arg186=)	MMAB	Single nucleotide variant (non-coding transcript variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2827905	NM_052845.4(MMAB):c.444G>T (p.Gly148=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2825470	NM_052845.4(MMAB):c.705G>A (p.Glu235=)	MMAB	Single nucleotide variant (non-coding transcript variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2823761	NM_052845.4(MMAB):c.33C>T (p.Gly11=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2822280	NM_052845.4(MMAB):c.290+8G>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2820085	NM_052845.4(MMAB):c.584+9G>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2817587	NM_052845.4(MMAB):c.348+11C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2817214	NM_052845.4(MMAB):c.197-14A>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2813727	NM_052845.4(MMAB):c.414T>C (p.Ala138=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2812283	NM_052845.4(MMAB):c.135-19G>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2810905	NM_052845.4(MMAB):c.225G>A (p.Arg75=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2802085	NM_052845.4(MMAB):c.134+7G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2790490	NM_052845.4(MMAB):c.134+20G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2788607	NM_052845.4(MMAB):c.574dup (p.Ala192fs)	MMAB (A192fs)	Duplication (non-coding transcript variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2787402	NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)	MMAB (C119*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2783082	NM_052845.4(MMAB):c.196+13C>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2772887	NM_052845.4(MMAB):c.24C>T (p.Ser8=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2772299	NM_052845.4(MMAB):c.483C>T (p.Thr161=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2772093	NM_052845.4(MMAB):c.196+17T>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2764740	NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)	MMAB (R190L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2756919	NM_052845.4(MMAB):c.147C>T (p.Ser49=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2755567	NM_052845.4(MMAB):c.422-1G>A	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2754610	NM_052845.4(MMAB):c.2T>A (p.Met1Lys)	MMAB, MVK (M1K)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2749351	NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)	MMAB (Q47*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2746699	NM_052845.4(MMAB):c.426T>C (p.Tyr142=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2746291	NM_052845.4(MMAB):c.116del (p.Gly39fs)	MMAB, MVK (G39fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2740638	NM_052845.4(MMAB):c.349-14C>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2735959	NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)	MMAB (E112*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2731696	NM_052845.4(MMAB):c.255C>G (p.Ala85=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2724218	NM_052845.4(MMAB):c.585-12C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2716631	NM_052845.4(MMAB):c.696G>T (p.Gly232=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2715184	NM_052845.4(MMAB):c.134+1G>T	MMAB, MVK	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2694383	NM_052845.4(MMAB):c.349-20C>T	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2683750	NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)	MMAB (R191G)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676618	NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)	MMAB, MVK (C21*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676617	NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)	MMAB (S180*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676616	NM_052845.4(MMAB):c.32del (p.Gly11fs)	MMAB, MVK (G11fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676615	NM_052845.4(MMAB):c.502dup (p.Thr168fs)	MMAB (T168fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676614	NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)	MMAB, MVK (Q38*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676613	NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)	MMAB (C185fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676612	NM_052845.4(MMAB):c.574_577del (p.Ala192fs)	MMAB (A192fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic/Likely pathogenic
Select item 2585574	NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)	MMAB, MVK (P30S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2501701	NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)	MMAB (R191P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2433760	NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)	MMAB (R186G)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2427143	NC_000012.11:g.(?_110009444)_(110012715_?)del	MMAB, MVK	Deletion	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2427142	NC_000012.11:g.(?_109991510)_(109994951_?)del	MMAB	Deletion	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2420897	NM_052845.4(MMAB):c.676T>C (p.Tyr226His)	MMAB (Y226H)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2417550	NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)	MMAB (Y142S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2200545	NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)	MMAB (S244L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GUncertain significance
Select item 2197323	NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)	MMAB (D206N)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2193470	NM_052845.4(MMAB):c.422-19del	MMAB	Deletion (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign

<< First< Prev

Page of 5