1644[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 360423	NM_001082971.2(DDC):c.*341C>T	DDC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 360424	NM_001082971.2(DDC):c.*314T>C	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GBenign
Select item 360425	NM_001082971.2(DDC):c.*297T>C	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GBenign
Select item 909187	NM_001082971.2(DDC):c.*274G>A	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 360426	NM_001082971.2(DDC):c.*155C>T	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 360427	NM_001082971.2(DDC):c.*116T>G	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 909188	NM_001082971.2(DDC):c.*113C>T	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 911181	NM_001082971.2(DDC):c.*36G>C	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 360428	NM_001082971.2(DDC):c.*23C>A	DDC	Single nucleotide variant (3 prime UTR variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1261761	NM_001082971.2(DDC):c.*18+276A>C	DDC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256953	NM_001082971.2(DDC):c.*18+149C>T	DDC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222837	NM_001082971.2(DDC):c.*18+42C>T	DDC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1483266	NM_001082971.2(DDC):c.1437G>T (p.Arg479Ser)	DDC (R431S +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2013081	NM_001082971.2(DDC):c.1436G>A (p.Arg479Lys)	DDC (R441K +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1115481	NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)	DDC (R386G +4 more)	Single nucleotide variant (missense variant)	DDC-related disorder +2 more	GLikely benign
Select item 1043174	NM_001082971.2(DDC):c.1427G>A (p.Arg476Gln)	DDC (R428Q +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 632005	NM_001082971.2(DDC):c.1426C>T (p.Arg476Ter)	DDC (R476* +4 more)	Single nucleotide variant (nonsense)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1471808	NM_001082971.2(DDC):c.1421T>G (p.Val474Gly)	DDC (V396G +4 more)	Single nucleotide variant (missense 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 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
Select item 1488460	NM_001082971.2(DDC):c.1417G>A (p.Asp473Asn)	DDC (D425N +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1940568	NM_001082971.2(DDC):c.1416C>T (p.Ala472=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1545012	NM_001082971.2(DDC):c.1413G>T (p.Ala471=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 739803	NM_001082971.2(DDC):c.1413G>A (p.Ala471=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1009394	NM_001082971.2(DDC):c.1412C>T (p.Ala471Val)	DDC (A378V +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1574232	NM_001082971.2(DDC):c.1410G>A (p.Leu470=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1008957	NM_001082971.2(DDC):c.1392G>C (p.Trp464Cys)	DDC (W371C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1564843	NM_001082971.2(DDC):c.1389C>G (p.Ala463=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1537553	NM_001082971.2(DDC):c.1386G>A (p.Arg462=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2136536	NM_001082971.2(DDC):c.1385G>C (p.Arg462Pro)	DDC (R384P +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 360429	NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln)	DDC (R462Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely 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 1046467	NM_001082971.2(DDC):c.1384C>T (p.Arg462Trp)	DDC (R369W +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2136537	NM_001082971.2(DDC):c.1379T>G (p.Val460Gly)	DDC (V422G +4 more)	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 2042711	NM_001082971.2(DDC):c.1377T>G (p.His459Gln)	DDC (H459Q +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2033230	NM_001082971.2(DDC):c.1368A>G (p.Glu456=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1009794	NM_001082971.2(DDC):c.1367A>T (p.Glu456Val)	DDC (E363V +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
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 1152908	NM_001082971.2(DDC):c.1362G>A (p.Thr454=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1053058	NM_001082971.2(DDC):c.1361C>T (p.Thr454Met)	DDC (T361M +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GUncertain significance
Select item 420592	NM_001082971.2(DDC):c.1358G>A (p.Arg453His)	DDC (R453H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 559481	NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys)	DDC (R375C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic/Likely pathogenic
Select item 488382	NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe)	DDC (C451F +4 more)	Single nucleotide variant (missense 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 2019725	NM_001082971.2(DDC):c.1339C>A (p.Arg447Ser)	DDC (R399S +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1805503	NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)	DDC (R354C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic/Likely pathogenic
Select item 1361461	NM_001082971.2(DDC):c.1324G>T (p.Asp442Tyr)	DDC (D404Y +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1446716	NM_001082971.2(DDC):c.1303_1317del (p.Val436_Leu440del)	DDC	Deletion (inframe_deletion)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
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 911182	NM_001082971.2(DDC):c.1307T>C (p.Val436Ala)	DDC (V343A +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1068763	NM_001082971.2(DDC):c.1297dup (p.Ile433fs)	DDC (I340fs +4 more)	Duplication (frameshift variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 1328915	NM_001082971.2(DDC):c.1296A>T (p.Lys432Asn)	DDC (K339N +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GUncertain significance
Select item 1468829	NM_001082971.2(DDC):c.1286G>A (p.Ser429Asn)	DDC (S336N +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1948976	NM_001082971.2(DDC):c.1280T>G (p.Ile427Arg)	DDC (I389R +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 3080714	NM_001082971.2(DDC):c.1277G>A (p.Arg426Lys)	DDC (R426K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1520019	NM_001082971.2(DDC):c.1265C>T (p.Ala422Val)	DDC (A384V +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2128386	NM_001082971.2(DDC):c.1264G>A (p.Ala422Thr)	DDC (A344T +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 2129349	NM_001082971.2(DDC):c.1257G>A (p.Val419=)	DDC	Single nucleotide variant (synonymous 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 2027570	NM_001082971.2(DDC):c.1245T>C (p.Gly415=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1378024	NM_001082971.2(DDC):c.1244G>A (p.Gly415Asp)	DDC (G337D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2110527	NM_001082971.2(DDC):c.1243G>T (p.Gly415Cys)	DDC (G367C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
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 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 1576470	NM_001082971.2(DDC):c.1243-17T>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1624306	NM_001082971.2(DDC):c.1243-20C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1300764	NM_001082971.2(DDC):c.1243-138C>T	DDC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247265	NM_001082971.2(DDC):c.1242+158A>G	DDC	Single nucleotide variant (intron variant)	not provided	GBenign
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 1949573	NM_001082971.2(DDC):c.1242+18C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1673792	NM_001082971.2(DDC):c.1242+11A>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1079489	NM_001082971.2(DDC):c.1242+10C>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 2019969	NM_001082971.2(DDC):c.1242+9A>G	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign
Select item 1944408	NM_001082971.2(DDC):c.1242+5G>C	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
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 2115511	NM_001082971.2(DDC):c.1242G>A (p.Lys414=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1360226	NM_001082971.2(DDC):c.1235G>A (p.Arg412Gln)	DDC (R334Q +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1068764	NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)	DDC (R319W +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase +2 more	GPathogenic/Likely pathogenic
Select item 1374428	NM_001082971.2(DDC):c.1233del (p.Arg412fs)	DDC (R334fs +4 more)	Deletion (frameshift variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 977459	NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly)	DDC (C410G +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 1051670	NM_001082971.2(DDC):c.1218G>A (p.Leu406=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1384091	NM_001082971.2(DDC):c.1217T>A (p.Leu406Gln)	DDC (L358Q +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
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 1943258	NM_001082971.2(DDC):c.1202G>C (p.Cys401Ser)	DDC (C363S +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 360430	NM_001082971.2(DDC):c.1190G>A (p.Arg397His)	DDC (R397H +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GUncertain significance
Select item 1800816	NM_001082971.2(DDC):c.1189C>T (p.Arg397Cys)	DDC (R304C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GUncertain significance
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 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 1506325	NM_001082971.2(DDC):c.1181A>G (p.Gln394Arg)	DDC (Q301R +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
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 1383298	NM_001082971.2(DDC):c.1178G>A (p.Arg393His)	DDC (R355H +4 more)	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 911183	NM_001082971.2(DDC):c.1177C>T (p.Arg393Cys)	DDC (R315C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GUncertain significance
Select item 1151880	NM_001082971.2(DDC):c.1167G>A (p.Glu389=)	DDC	Single nucleotide variant (synonymous variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely benign

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