ClinVar for MedGen (Select 220945) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255515	NM_001082971.2(DDC):c.1060G>A (p.Gly354Ser)	DDC (G261S +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 3255514	NM_001082971.2(DDC):c.782G>T (p.Cys261Phe)	DDC (C168F +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 3255513	NM_001082971.2(DDC):c.139C>G (p.Pro47Ala)	DDC (P47A)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 3065481	NM_001082971.2(DDC):c.179T>C (p.Val60Ala)	DDC (V60A)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 3020017	NM_001082971.2(DDC):c.867_871TGGAG[1] (p.Glu292fs)	DDC (E199fs +4 more)	Microsatellite (frameshift variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 3014751	NM_001082971.2(DDC):c.1185T>C (p.Asp395=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 3014413	NM_001082971.2(DDC):c.510G>A (p.Ala170=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 3003357	NM_001082971.2(DDC):c.1140+17T>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 3003355	NM_001082971.2(DDC):c.1185T>A (p.Asp395Glu)	DDC (D347E +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 3003021	NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)	DDC, DDC-AS1 (G123R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3001817	NM_001082971.2(DDC):c.201+4A>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2985825	NM_001082971.2(DDC):c.316-4A>G	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2976771	NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)	DDC (Q282* +4 more)	Single nucleotide variant (nonsense)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2976473	NM_001082971.2(DDC):c.1022-7T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2976445	NM_001082971.2(DDC):c.781+10C>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2970660	NM_001082971.2(DDC):c.1251C>T (p.Asn417=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2969824	NM_001082971.2(DDC):c.1384C>A (p.Arg462=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2962231	NM_001082971.2(DDC):c.782-2A>T	DDC	Single nucleotide variant (splice acceptor variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 2961705	NM_001082971.2(DDC):c.876+16G>A	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2954730	NM_001082971.2(DDC):c.570+18G>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2917800	NM_001082971.2(DDC):c.469C>T (p.Leu157=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2909539	NM_001082971.2(DDC):c.700C>T (p.Leu234=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2909017	NM_001082971.2(DDC):c.627C>A (p.Ile209=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2901361	NM_001082971.2(DDC):c.1311A>G (p.Pro437=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2895103	NM_001082971.2(DDC):c.1041+1G>A	DDC	Single nucleotide variant (splice donor variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 2889921	NM_001082971.2(DDC):c.459G>A (p.Leu153=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2882268	NM_001082971.2(DDC):c.1242+20A>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2882158	NM_001082971.2(DDC):c.255G>C (p.Ser85=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2873861	NM_001082971.2(DDC):c.48C>T (p.Tyr16=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2858465	NM_001082971.2(DDC):c.351G>C (p.Val117=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2855706	NM_001082971.2(DDC):c.1022-1G>A	DDC	Single nucleotide variant (splice acceptor variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 2846647	NM_001082971.2(DDC):c.202-18C>G	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2845001	NM_001082971.2(DDC):c.87C>G (p.Val29=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2844574	NM_001082971.2(DDC):c.1243-4C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2836687	NM_001082971.2(DDC):c.362G>A (p.Trp121Ter)	DDC-AS1, DDC (W121* +1 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2833806	NM_001082971.2(DDC):c.202-10T>G	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2828007	NM_001082971.2(DDC):c.315+11G>C	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2821751	NM_001082971.2(DDC):c.1041+20G>A	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2820745	NM_001082971.2(DDC):c.1146C>A (p.Val382=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2820460	NM_001082971.2(DDC):c.316-11C>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2814552	NM_001082971.2(DDC):c.105C>G (p.Pro35=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2812591	NM_001082971.2(DDC):c.1022-17_1022-16del	DDC	Deletion (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2811119	NM_001082971.2(DDC):c.1042-9T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2800799	NM_001082971.2(DDC):c.315+10C>G	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2796645	NM_001082971.2(DDC):c.630C>T (p.Pro210=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2795533	NM_001082971.2(DDC):c.945-13T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2795026	NM_001082971.2(DDC):c.858C>T (p.His286=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2791595	NM_001082971.2(DDC):c.1021+12G>A	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2787228	NM_001082971.2(DDC):c.1074C>A (p.Arg358=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2784003	NM_001082971.2(DDC):c.939C>T (p.Ala313=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2775584	NM_001082971.2(DDC):c.1141-15C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2765712	NM_001082971.2(DDC):c.877-12G>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2762033	NM_001082971.2(DDC):c.630C>G (p.Pro210=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2758487	NM_001082971.2(DDC):c.714+14C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2757955	NM_001082971.2(DDC):c.1206G>C (p.Val402=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2750259	NM_001082971.2(DDC):c.1155C>T (p.Ser385=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2749892	NM_001082971.2(DDC):c.903C>T (p.Pro301=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2741822	NM_001082971.2(DDC):c.801G>A (p.Trp267Ter)	DDC (W174* +4 more)	Single nucleotide variant (nonsense)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2741676	NM_001082971.2(DDC):c.243C>A (p.Pro81=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2741576	NM_001082971.2(DDC):c.570+18dup	DDC	Duplication (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GBenign
Select item 2739474	NM_001082971.2(DDC):c.764T>A (p.Leu255Ter)	DDC (L177* +4 more)	Single nucleotide variant (nonsense)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2735025	NM_001082971.2(DDC):c.323G>A (p.Ser108Asn)	DDC, DDC-AS1 (S108N +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 2735024	NM_001082971.2(DDC):c.1041+1G>C	DDC	Single nucleotide variant (splice donor variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 2735023	NM_001082971.2(DDC):c.1340G>A (p.Arg447His)	DDC (R354H +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2727639	NM_001082971.2(DDC):c.1365G>A (p.Val455=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2710545	NM_001082971.2(DDC):c.876+1G>T	DDC	Single nucleotide variant (splice donor variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 2708119	NM_001082971.2(DDC):c.1021+7T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2701915	NM_001082971.2(DDC):c.792A>G (p.Glu264=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2697436	NM_001082971.2(DDC):c.165C>T (p.Asp55=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2697360	NM_001082971.2(DDC):c.388A>C (p.Lys130Gln)	DDC, DDC-AS1 (K130Q +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2585327	NM_001082971.2(DDC):c.140C>A (p.Pro47His)	DDC (P47H)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic/Likely pathogenic
Select item 2429166	NM_001082971.2(DDC):c.1241dup (p.Ser416fs)	DDC (S323fs +4 more)	Duplication (frameshift variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic/Likely pathogenic
Select item 2423397	NC_000007.13:g.(?_50605538)_(50611783_?)del	DDC	Deletion	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2423396	NC_000007.13:g.(?_50571671)_(50571777_?)del	DDC	Deletion	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2419772	NM_001082971.2(DDC):c.195G>A (p.Met65Ile)	DDC (M65I)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2419102	NM_001082971.2(DDC):c.1177C>G (p.Arg393Gly)	DDC (R300G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2417136	NM_001082971.2(DDC):c.316-8C>G	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2415208	NM_001082971.2(DDC):c.494A>G (p.His165Arg)	DDC (H127R +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2202599	NM_001082971.2(DDC):c.834A>C (p.Ala278=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2193118	NM_001082971.2(DDC):c.715-3T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2191877	NM_001082971.2(DDC):c.1420G>A (p.Val474Met)	DDC (V396M +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2190100	NM_001082971.2(DDC):c.945-20C>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2189367	NM_001082971.2(DDC):c.133G>A (p.Ala45Thr)	DDC (A45T)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2187541	NM_001082971.2(DDC):c.1377T>C (p.His459=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GLikely benign
Select item 2186091	NM_001082971.2(DDC):c.479G>A (p.Arg160Gln)	DDC (R122Q +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2183690	NM_001082971.2(DDC):c.571-3C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2176603	NM_001082971.2(DDC):c.147G>A (p.Glu49=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2174855	NM_001082971.2(DDC):c.600A>G (p.Leu200=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2174412	NM_001082971.2(DDC):c.702G>C (p.Leu234=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2173320	NM_001082971.2(DDC):c.1179C>T (p.Arg393=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2169042	NM_001082971.2(DDC):c.876+8C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2168328	NM_001082971.2(DDC):c.285C>T (p.Cys95=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2158083	NM_001082971.2(DDC):c.913C>T (p.Leu305=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2157591	NM_001082971.2(DDC):c.288G>T (p.Gly96=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2154493	NM_001082971.2(DDC):c.1243-10A>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2153331	NM_001082971.2(DDC):c.531C>G (p.Ala177=)	DDC	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2149811	NM_001082971.2(DDC):c.714+17T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2146584	NM_001082971.2(DDC):c.318G>A (p.Ala106=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2145859	NM_001082971.2(DDC):c.781+9C>A	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2145639	NM_001082971.2(DDC):c.1419C>T (p.Asp473=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign

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