ClinVar for MedGen (Select 1670056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2999916	NM_016579.4(CD320):c.427G>A (p.Asp143Asn)	CD320 (D143N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2961006	NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal)	CD320	Duplication (inframe_insertion)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2917606	NM_016579.4(CD320):c.503-17G>T	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2916804	NM_016579.4(CD320):c.800C>T (p.Ala267Val)	CD320 (A267V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2904387	NM_016579.4(CD320):c.487G>A (p.Asp163Asn)	CD320 (D163N +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2903057	NM_016579.4(CD320):c.502+13G>C	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2894684	NM_016579.4(CD320):c.76G>A (p.Gly26Ser)	CD320 (G26S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2883065	NM_016579.4(CD320):c.195_223del (p.Leu66fs)	CD320 (L66fs)	Deletion (frameshift variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2858462	NM_016579.4(CD320):c.268+4A>C	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2810545	NM_016579.4(CD320):c.502+3A>G	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2800008	NM_016579.4(CD320):c.502G>A (p.Gly168Arg)	CD320 (G126R +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2790107	NM_016579.4(CD320):c.486C>T (p.Ser162=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2778881	NM_016579.4(CD320):c.166C>T (p.Pro56Ser)	CD320 (P56S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2777579	NM_016579.4(CD320):c.356G>T (p.Gly119Val)	CD320 (G119V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2758829	NM_016579.4(CD320):c.599G>T (p.Gly200Val)	CD320 (G200V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2732481	NM_016579.4(CD320):c.681T>C (p.Thr227=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2731658	NM_016579.4(CD320):c.633C>T (p.Val211=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2712602	NM_016579.4(CD320):c.555G>A (p.Val185=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2696293	NM_016579.4(CD320):c.245A>T (p.Asp82Val)	CD320 (D82V)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2426309	NC_000019.9:g.(?_8367347)_(8370060_?)dup	CD320	Duplication	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2408315	NM_016579.4(CD320):c.350C>T (p.Ser117Phe)	CD320 (S75F +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GUncertain significance
Select item 2403798	NM_016579.4(CD320):c.506C>T (p.Thr169Ile)	CD320 (T127I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2194551	NM_016579.4(CD320):c.708G>T (p.Ala236=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2193717	NM_016579.4(CD320):c.634G>A (p.Gly212Arg)	CD320 (G170R +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2168063	NM_016579.4(CD320):c.551C>T (p.Pro184Leu)	CD320 (P184L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2161842	NM_016579.4(CD320):c.268+15C>T	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2160735	NM_016579.4(CD320):c.685T>C (p.Tyr229His)	CD320 (Y187H +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2139225	NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del)	CD320	Deletion (inframe_deletion)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2130998	NM_016579.4(CD320):c.143-5C>T	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2107830	NM_016579.4(CD320):c.240C>T (p.Cys80=)	CD320	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2106444	NM_016579.4(CD320):c.302C>G (p.Pro101Arg)	CD320 (P101R +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2089940	NM_016579.4(CD320):c.229G>A (p.Asp77Asn)	CD320 (D77N)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2082216	NM_016579.4(CD320):c.111G>T (p.Pro37=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2071104	NM_016579.4(CD320):c.509A>G (p.Asn170Ser)	CD320 (N128S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2065837	NM_016579.4(CD320):c.495C>G (p.Leu165=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2064661	NM_016579.4(CD320):c.337G>A (p.Val113Ile)	CD320 (V113I +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2062092	NM_016579.4(CD320):c.314G>T (p.Gly105Val)	CD320 (G63V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2060749	NM_016579.4(CD320):c.446C>T (p.Thr149Met)	CD320 (T149M +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2060586	NM_016579.4(CD320):c.521C>T (p.Pro174Leu)	CD320 (P174L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2024627	NM_016579.4(CD320):c.660A>C (p.Gly220=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 2017815	NM_016579.4(CD320):c.622_624del (p.Val208del)	CD320 (V208del +1 more)	Deletion (inframe_deletion)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2008266	NM_016579.4(CD320):c.168_171del (p.Thr57fs)	CD320 (T57fs)	Microsatellite (frameshift variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2006695	NM_016579.4(CD320):c.96G>C (p.Glu32Asp)	CD320 (E32D)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 2006693	NM_016579.4(CD320):c.179A>T (p.Gln60Leu)	CD320 (Q60L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1998831	NM_016579.4(CD320):c.142+4A>G	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1961069	NM_016579.4(CD320):c.142+10G>A	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1946206	NM_016579.4(CD320):c.839C>T (p.Ser280Leu)	CD320 (S238L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1718921	NM_016579.4(CD320):c.139G>C (p.Ala47Pro)	CD320 (A47P)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1714587	NM_016579.4(CD320):c.242G>A (p.Ser81Asn)	CD320 (S81N)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1622235	NM_016579.4(CD320):c.459C>T (p.Asp153=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1616697	NM_016579.4(CD320):c.333C>T (p.Thr111=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1584743	NM_016579.4(CD320):c.477C>A (p.Pro159=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1584238	NM_016579.4(CD320):c.210C>T (p.Leu70=)	CD320	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1572928	NM_016579.4(CD320):c.503-18C>T	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GBenign
Select item 1558042	NM_016579.4(CD320):c.143-4G>A	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1544502	NM_016579.4(CD320):c.456C>T (p.Cys152=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1536736	NM_016579.4(CD320):c.378C>T (p.Asn126=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GLikely benign
Select item 1536734	NM_016579.4(CD320):c.269-13C>A	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1523982	NM_016579.4(CD320):c.32C>T (p.Ala11Val)	CD320 (A11V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1475517	NM_016579.4(CD320):c.178C>T (p.Gln60Ter)	CD320 (Q60*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1461637	NM_016579.4(CD320):c.405C>T (p.Gly135=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1439701	NM_016579.4(CD320):c.32C>A (p.Ala11Glu)	CD320 (A11E)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1439352	NM_016579.4(CD320):c.773G>A (p.Arg258His)	CD320 (R216H +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1432781	NM_016579.4(CD320):c.679A>G (p.Thr227Ala)	CD320 (T185A +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1421005	NM_016579.4(CD320):c.7G>A (p.Gly3Ser)	CD320 (G3S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GConflicting classifications of pathogenicity
Select item 1416159	NM_016579.4(CD320):c.386G>T (p.Arg129Leu)	CD320 (R129L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GUncertain significance
Select item 1383199	NM_016579.4(CD320):c.167C>T (p.Pro56Leu)	CD320 (P56L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1298738	NM_016579.4(CD320):c.731C>T (p.Thr244Ile)	CD320 (T202I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169193	NM_016579.4(CD320):c.495C>T (p.Leu165=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GBenign
Select item 1154947	NM_016579.4(CD320):c.285C>T (p.Thr95=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1145045	NM_016579.4(CD320):c.374G>A (p.Arg125His)	CD320 (R125H +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1138639	NM_016579.4(CD320):c.588C>G (p.Ala196=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1137011	NM_016579.4(CD320):c.6C>T (p.Ser2=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1115507	NM_016579.4(CD320):c.75C>T (p.Leu25=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1102129	NM_016579.4(CD320):c.318C>T (p.Leu106=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1094401	NM_016579.4(CD320):c.143-9A>G	CD320	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1091710	NM_016579.4(CD320):c.657C>T (p.Ala219=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1086149	NM_016579.4(CD320):c.126C>T (p.Thr42=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1085802	NM_016579.4(CD320):c.306G>A (p.Pro102=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 1063339	NM_016579.4(CD320):c.760C>T (p.Arg254Ter)	CD320 (R212* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1060439	NM_016579.4(CD320):c.88G>C (p.Gly30Arg)	CD320 (G30R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GUncertain significance
Select item 1055816	NM_016579.4(CD320):c.634G>T (p.Gly212Trp)	CD320 (G170W +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1054168	NM_016579.4(CD320):c.412C>A (p.Arg138Ser)	CD320 (R138S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1024024	NM_016579.4(CD320):c.305C>T (p.Pro102Leu)	CD320 (P102L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 1018004	NM_016579.4(CD320):c.451C>T (p.Arg151Cys)	CD320 (R109C +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 938841	NM_016579.4(CD320):c.708G>A (p.Ala236=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 857328	NM_016579.4(CD320):c.212C>G (p.Thr71Ser)	CD320 (T71S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 851092	NM_016579.4(CD320):c.760C>A (p.Arg254=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 848693	NM_016579.4(CD320):c.334G>A (p.Gly112Ser)	CD320 (G112S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 841109	NM_016579.4(CD320):c.404G>T (p.Gly135Val)	CD320 (G135V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 832775	NC_000019.10:g.(?_8302443)_(8308310_?)dup	CD320	Duplication	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 793191	NM_016579.4(CD320):c.522G>A (p.Pro174=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 791760	NM_016579.4(CD320):c.438T>C (p.Ile146=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GBenign
Select item 770805	NM_016579.4(CD320):c.11G>A (p.Gly4Asp)	CD320 (G4D)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GBenign
Select item 760688	NM_016579.4(CD320):c.722G>A (p.Ser241Asn)	CD320 (S199N +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 745479	NM_016579.4(CD320):c.745C>T (p.Leu249Phe)	CD320 (L207F +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	GLikely benign
Select item 664765	NM_016579.4(CD320):c.478G>A (p.Asp160Asn)	CD320 (D118N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 661454	NM_016579.4(CD320):c.202G>A (p.Val68Met)	CD320 (V68M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to transcobalamin receptor defect	GUncertain significance
Select item 659573	NM_016579.4(CD320):c.41C>T (p.Thr14Ile)	CD320 (T14I)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GUncertain significance
Select item 659247	NM_016579.4(CD320):c.35G>T (p.Trp12Leu)	CD320 (W12L)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GUncertain significance

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