Related gene-specific medical variations for Gene (Select 100129427) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068905	NM_001082971.2(DDC):c.286G>T (p.Gly96Trp)	DDC, DDC-AS1 (G96W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	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)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
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 2882158	NM_001082971.2(DDC):c.255G>C (p.Ser85=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +2 more)	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 2846647	NM_001082971.2(DDC):c.202-18C>G	DDC, DDC-AS1	Single nucleotide variant (intron variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2836687	NM_001082971.2(DDC):c.362G>A (p.Trp121Ter)	DDC, DDC-AS1 (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 (intron variant +1 more)	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 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 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 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	GUncertain significance
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 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 2313183	NM_001082971.2(DDC):c.349G>C (p.Val117Leu)	DDC-AS1, DDC (V79L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260662	NM_001082971.2(DDC):c.250A>G (p.Ser84Gly)	DDC-AS1, DDC (S84G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2168328	NM_001082971.2(DDC):c.285C>T (p.Cys95=)	DDC-AS1, DDC	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
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 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 2134905	NM_001082971.2(DDC):c.220C>G (p.Pro74Ala)	DDC, DDC-AS1 (P74A)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2122007	NM_001082971.2(DDC):c.239T>G (p.Phe80Cys)	DDC, DDC-AS1 (F80C)	Single nucleotide variant (missense variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2110541	NM_001082971.2(DDC):c.292A>G (p.Ile98Val)	DDC, DDC-AS1 (I98V)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2097574	NM_001082971.2(DDC):c.266T>C (p.Met89Thr)	DDC-AS1, DDC (M89T)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2093865	NM_001082971.2(DDC):c.212G>C (p.Trp71Ser)	DDC, DDC-AS1 (W71S)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2090469	NM_001082971.2(DDC):c.428T>C (p.Val143Ala)	DDC, DDC-AS1 (V105A +1 more)	Single nucleotide variant (intron variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2083950	NM_001082971.2(DDC):c.331T>C (p.Cys111Arg)	DDC, DDC-AS1 (C111R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2082457	NM_001082971.2(DDC):c.273G>A (p.Ala91=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2076940	NM_001082971.2(DDC):c.393A>G (p.Ala131=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2073441	NM_001082971.2(DDC):c.238T>C (p.Phe80Leu)	DDC, DDC-AS1 (F80L)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2044171	NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)	DDC, DDC-AS1 (S85*)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 2019961	NM_001082971.2(DDC):c.202-5T>C	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1994831	NM_001082971.2(DDC):c.429G>A (p.Val143=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1977881	NM_001082971.2(DDC):c.375G>A (p.Met125Ile)	DDC, DDC-AS1 (M125I +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1969535	NM_001082971.2(DDC):c.276C>T (p.Asp92=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1964723	NM_001082971.2(DDC):c.300C>T (p.Cys100=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1963876	NM_001082971.2(DDC):c.316-8C>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1950414	NM_001082971.2(DDC):c.220C>A (p.Pro74Thr)	DDC, DDC-AS1 (P74T)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1947419	NM_001082971.2(DDC):c.435+15G>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1917800	NM_001082971.2(DDC):c.299G>C (p.Cys100Ser)	DDC, DDC-AS1 (C100S)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 1903717	NM_001082971.2(DDC):c.316-8C>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1678661	NM_001082971.2(DDC):c.435+61C>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1677221	NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)	DDC, DDC-AS1 (P81L)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 1673053	NM_001082971.2(DDC):c.435+19G>C	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1651185	NM_001082971.2(DDC):c.202-8C>T	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1638296	NM_001082971.2(DDC):c.316-5G>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1617717	NM_001082971.2(DDC):c.315+14T>C	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1610963	NM_001082971.2(DDC):c.303C>T (p.Ile101=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1610775	NM_001082971.2(DDC):c.316-18T>C	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1594368	NM_001082971.2(DDC):c.315+13A>T	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1591712	NM_001082971.2(DDC):c.316-7A>C	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1580721	NM_001082971.2(DDC):c.261G>A (p.Pro87=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GLikely benign
Select item 1568158	NM_001082971.2(DDC):c.216C>T (p.His72=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1544382	NM_001082971.2(DDC):c.390G>A (p.Lys130=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1531760	NM_001082971.2(DDC):c.231C>T (p.Phe77=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	DDC-related condition +1 more	GLikely benign
Select item 1510433	NM_001082971.2(DDC):c.435+5G>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1499639	NM_001082971.2(DDC):c.419G>A (p.Gly140Glu)	DDC-AS1, DDC (G102E +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1498769	NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)	DDC, DDC-AS1 (W83R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity
Select item 1489200	NM_001082971.2(DDC):c.410C>A (p.Ala137Asp)	DDC, DDC-AS1 (A137D +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1487363	NM_001082971.2(DDC):c.391G>T (p.Ala131Ser)	DDC, DDC-AS1 (A131S +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1477046	NM_001082971.2(DDC):c.322A>C (p.Ser108Arg)	DDC, DDC-AS1 (S108R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1476768	NM_001082971.2(DDC):c.202-3C>T	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1467678	NM_001082971.2(DDC):c.232G>A (p.Ala78Thr)	DDC-AS1, DDC (A78T)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1460840	NM_001082971.2(DDC):c.379G>A (p.Glu127Lys)	DDC, DDC-AS1 (E127K +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1446024	NM_001082971.2(DDC):c.224A>T (p.Tyr75Phe)	DDC, DDC-AS1 (Y75F)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1430305	NM_001082971.2(DDC):c.231C>A (p.Phe77Leu)	DDC, DDC-AS1 (F77L)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1419681	NM_001082971.2(DDC):c.212G>T (p.Trp71Leu)	DDC, DDC-AS1 (W71L)	Single nucleotide variant (missense variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1414971	NM_001082971.2(DDC):c.221C>T (p.Pro74Leu)	DDC, DDC-AS1 (P74L)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1399541	NM_000790.4(DDC):c.316del	DDC, DDC-AS1	Deletion (splice acceptor variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic/Likely pathogenic
Select item 1388676	NM_001082971.2(DDC):c.326C>T (p.Pro109Leu)	DDC, DDC-AS1 (P109L +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1376830	NM_001082971.2(DDC):c.418G>A (p.Gly140Arg)	DDC, DDC-AS1 (G102R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1365541	NM_001082971.2(DDC):c.251G>A (p.Ser84Asn)	DDC, DDC-AS1 (S84N)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1356946	NM_001082971.2(DDC):c.268C>G (p.Leu90Val)	DDC, DDC-AS1 (L90V)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1352690	NM_001082971.2(DDC):c.317C>T (p.Ala106Val)	DDC, DDC-AS1 (A106V +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1348444	NM_001082971.2(DDC):c.418G>C (p.Gly140Arg)	DDC, DDC-AS1 (G102R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1324213	NM_001082971.2(DDC):c.285C>A (p.Cys95Ter)	DDC, DDC-AS1 (C95*)	Single nucleotide variant (nonsense +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 1301219	NM_001082971.2(DDC):c.315+260T>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251771	NM_001082971.2(DDC):c.435+260G>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245436	NM_001082971.2(DDC):c.315+225C>G	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1093188	NM_001082971.2(DDC):c.315+10C>T	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1081221	NM_001082971.2(DDC):c.207G>A (p.Thr69=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1057684	NM_001082971.2(DDC):c.206C>T (p.Thr69Met)	DDC, DDC-AS1 (T69M)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity
Select item 1036808	NM_001082971.2(DDC):c.367G>A (p.Gly123Arg)	DDC, DDC-AS1 (G85R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 1010824	NM_001082971.2(DDC):c.270_281dup (p.Ala91_Leu94dup)	DDC, DDC-AS1	Duplication (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1001454	NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)	DDC, DDC-AS1 (G104R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GUncertain significance
Select item 973441	NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)	DDC, DDC-AS1 (P87L)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 973440	NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)	DDC, DDC-AS1 (G96R)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 949757	NM_001082971.2(DDC):c.232G>T (p.Ala78Ser)	DDC, DDC-AS1 (A78S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 909256	NM_001082971.2(DDC):c.315+11G>A	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity
Select item 909255	NM_001082971.2(DDC):c.316-6C>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity
Select item 909254	NM_001082971.2(DDC):c.316-5G>C	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity
Select item 733778	NM_001082971.2(DDC):c.255G>A (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 360441	NM_001082971.2(DDC):c.234C>T (p.Ala78=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	DDC-related condition +2 more	GBenign
Select item 360440	NM_001082971.2(DDC):c.265A>G (p.Met89Val)	DDC, DDC-AS1 (M89V)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 360439	NM_001082971.2(DDC):c.366C>T (p.Leu122=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity
Select item 360438	NM_001082971.2(DDC):c.412G>A (p.Gly138Arg)	DDC, DDC-AS1 (G138R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 284670	NM_001082971.2(DDC):c.420G>C (p.Gly140=)	DDC, DDC-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 197166	NM_001082971.2(DDC):c.435+6G>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 17813	NM_001082971.2(DDC):c.272C>T (p.Ala91Val)	DDC, DDC-AS1 (A91V)	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17809	NM_001082971.2(DDC):c.304G>A (p.Gly102Ser)	DDC, DDC-AS1 (G102S)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic

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Items: 100