CD320[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 151483	GRCh38/hg38 19p13.2(chr19:8078715-8308568)x3	CD320, CERS4 +12 more	Copy number gain	See cases	GBenign
Select item 1239139	NM_016579.4(CD320):c.*189G>A	CD320	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1181546	NM_016579.4(CD320):c.*129C>T	CD320	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249046	NM_016579.4(CD320):c.*83C>G	CD320	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 381271	NM_016579.4(CD320):c.840G>A (p.Ser280=)	CD320	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 136686	NM_016579.4(CD320):c.837C>G (p.Thr279=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect +2 more	GBenign
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 3043476	NM_016579.4(CD320):c.789G>A (p.Gly263=)	CD320	Single nucleotide variant (synonymous variant)	CD320-related disorder	GLikely benign
Select item 3140548	NM_016579.4(CD320):c.779G>A (p.Arg260His)	CD320 (R260H +1 more)	Single nucleotide variant (missense variant)	not specified	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 377633	NM_016579.4(CD320):c.772C>T (p.Arg258Cys)	CD320 (R258C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 382056	NM_016579.4(CD320):c.769G>A (p.Glu257Lys)	CD320 (E257K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 426458	NM_016579.4(CD320):c.761G>A (p.Arg254Gln)	CD320 (R254Q +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GUncertain significance
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 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 512916	NM_016579.4(CD320):c.759C>T (p.Leu253=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	GBenign/Likely 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 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 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 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 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 2540723	NM_016579.4(CD320):c.707C>T (p.Ala236Val)	CD320 (A236V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 136685	NM_016579.4(CD320):c.707-15A>T	CD320	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1248253	NM_016579.4(CD320):c.707-36C>G	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 136684	NM_016579.4(CD320):c.658G>A (p.Gly220Arg)	CD320 (G220R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 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 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 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 682210	NM_016579.4(CD320):c.630T>A (p.Ser210=)	CD320	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3039660	NM_016579.4(CD320):c.613C>T (p.Leu205=)	CD320	Single nucleotide variant (synonymous variant)	CD320-related disorder	GLikely benign
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 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 2290318	NM_016579.4(CD320):c.586G>T (p.Ala196Ser)	CD320 (A196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 377632	NM_016579.4(CD320):c.522G>T (p.Pro174=)	CD320	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to transcobalamin receptor defect +2 more	GBenign
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 3033228	NM_016579.4(CD320):c.519C>T (p.Leu173=)	CD320	Single nucleotide variant (synonymous variant)	CD320-related disorder	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 2403798	NM_016579.4(CD320):c.506C>T (p.Thr169Ile)	CD320 (T127I +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect +1 more	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 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 1264667	NM_016579.4(CD320):c.503-48G>T	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178057	NM_016579.4(CD320):c.503-120_503-118dup	CD320	Duplication (intron variant)	not provided	GBenign
Select item 1258377	NM_016579.4(CD320):c.503-124C>T	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245363	NM_016579.4(CD320):c.503-153dup	CD320	Duplication (intron variant)	not provided	GBenign
Select item 1317829	NM_016579.4(CD320):c.503-135del	CD320	Deletion (intron variant)	not provided	GLikely benign
Select item 1691751	NM_016579.4(CD320):c.503-155_503-154del	CD320	Deletion (intron variant)	not provided	GLikely benign
Select item 1278568	NM_016579.4(CD320):c.503-154C>A	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179649	NM_016579.4(CD320):c.503-155C>T	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232092	NM_016579.4(CD320):c.503-244T>G	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286571	NM_016579.4(CD320):c.503-278T>G	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233034	NM_016579.4(CD320):c.503-294C>T	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243111	NM_016579.4(CD320):c.502+309G>A	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231182	NM_016579.4(CD320):c.502+297C>A	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292290	NM_016579.4(CD320):c.502+118G>A	CD320	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 648543	NM_016579.4(CD320):c.497G>T (p.Gly166Val)	CD320 (G166V +1 more)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to transcobalamin receptor defect	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 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 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 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 136681	NM_016579.4(CD320):c.483C>T (p.Ser161=)	CD320	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 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 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 136680	NM_016579.4(CD320):c.447G>T (p.Thr149=)	CD320	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 2248355	NM_016579.4(CD320):c.413G>C (p.Arg138Pro)	CD320 (R96P +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 2304685	NM_016579.4(CD320):c.373C>T (p.Arg125Cys)	CD320 (R125C +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 439465	NM_016579.4(CD320):c.344A>G (p.Asp115Gly)	CD320 (D115G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519210	NM_016579.4(CD320):c.340A>G (p.Ser114Gly)	CD320 (S72G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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

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