"Ambry Genetics"[submitter] AND "ACD"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2602910	NM_001082486.2(ACD):c.1373T>C (p.Met458Thr)	ACD (M455T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2586822	NM_001082486.2(ACD):c.1372A>G (p.Met458Val)	ACD (M455V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1776761	NM_001082486.2(ACD):c.1371G>A (p.Pro457=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1776737	NM_001082486.2(ACD):c.1370C>G (p.Pro457Arg)	ACD (P457R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337912	NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)	ACD (P454L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GUncertain significance
Select item 1776723	NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)	ACD (P428A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1776681	NM_001082486.2(ACD):c.1367C>T (p.Thr456Ile)	ACD (T427I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 941603	NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)	ACD (P452fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2624828	NM_001082486.2(ACD):c.1361A>T (p.Glu454Val)	ACD (E425V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452446	NM_001082486.2(ACD):c.1357T>G (p.Ser453Ala)	ACD (S450A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1977779	NM_001082486.2(ACD):c.1356G>A (p.Gly452=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 2447153	NM_001082486.2(ACD):c.1355G>A (p.Gly452Glu)	ACD (G452E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1776443	NM_001082486.2(ACD):c.1355G>T (p.Gly452Val)	ACD (G449V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776427	NM_001082486.2(ACD):c.1354G>C (p.Gly452Arg)	ACD (G423R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566756	NM_001082486.2(ACD):c.1351C>T (p.Pro451Ser)	ACD (P422S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776247	NM_001082486.2(ACD):c.1347A>C (p.Ala449=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3261460	NM_001082486.2(ACD):c.1346C>T (p.Ala449Val)	ACD (A446V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776206	NM_001082486.2(ACD):c.1344T>C (p.Asp448=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2586828	NM_001082486.2(ACD):c.1343A>C (p.Asp448Ala)	ACD (D419A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2134272	NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)	ACD (D419N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1776047	NM_001082486.2(ACD):c.1340T>C (p.Met447Thr)	ACD (M444T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452428	NM_001082486.2(ACD):c.1339A>T (p.Met447Leu)	ACD (M444L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434065	NM_001082486.2(ACD):c.1336C>T (p.Leu446=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1775935	NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)	ACD (F445L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1775912	NM_001082486.2(ACD):c.1332C>T (p.His444=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3232651	NM_001082486.2(ACD):c.1331A>G (p.His444Arg)	ACD (H415R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775856	NM_001082486.2(ACD):c.1331A>C (p.His444Pro)	ACD (H415P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566766	NM_001082486.2(ACD):c.1330C>A (p.His444Asn)	ACD (H415N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452451	NM_001082486.2(ACD):c.1330C>T (p.His444Tyr)	ACD (H444Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261553	NM_001082486.2(ACD):c.1320C>A (p.Ala440=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1543940	NM_001082486.2(ACD):c.1320C>T (p.Ala440=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 3261488	NM_001082486.2(ACD):c.1319C>T (p.Ala440Val)	ACD (A437V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452453	NM_001082486.2(ACD):c.1318G>A (p.Ala440Thr)	ACD (A411T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775560	NM_001082486.2(ACD):c.1316T>C (p.Met439Thr)	ACD (M436T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1775541	NM_001082486.2(ACD):c.1315A>G (p.Met439Val)	ACD (M439V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1124867	NM_001082486.2(ACD):c.1314C>T (p.Leu438=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3232650	NM_001082486.2(ACD):c.1313T>A (p.Leu438His)	ACD (L409H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2452457	NM_001082486.2(ACD):c.1310A>G (p.Gln437Arg)	ACD (Q408R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775381	NM_001082486.2(ACD):c.1308C>T (p.Pro436=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3232649	NM_001082486.2(ACD):c.1307C>T (p.Pro436Leu)	ACD (P407L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775181	NM_001082486.2(ACD):c.1299G>T (p.Arg433Ser)	ACD (R430S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775178	NM_001082486.2(ACD):c.1299G>A (p.Arg433=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1775139	NM_001082486.2(ACD):c.1297A>T (p.Arg433Trp)	ACD (R404W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3232648	NM_001082486.2(ACD):c.1294G>T (p.Val432Phe)	ACD (V403F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775047	NM_001082486.2(ACD):c.1292C>T (p.Ala431Val)	ACD (A431V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774921	NM_001082486.2(ACD):c.1287C>T (p.Val429=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1774876	NM_001082486.2(ACD):c.1284G>T (p.Arg428=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1381050	NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)	ACD (R425Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3261563	NM_001082486.2(ACD):c.1282C>G (p.Arg428Gly)	ACD (R399G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1435630	NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp)	ACD (R425W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1774783	NM_001082486.2(ACD):c.1281T>C (p.Ala427=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1923953	NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)	ACD (A424V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 3232647	NM_001082486.2(ACD):c.1277G>C (p.Cys426Ser)	ACD (C397S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774708	NM_001082486.2(ACD):c.1277G>A (p.Cys426Tyr)	ACD (C397Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3232646	NM_001082486.2(ACD):c.1275C>T (p.Leu425=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1774636	NM_001082486.2(ACD):c.1273C>T (p.Leu425Phe)	ACD (L396F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774634	NM_001082486.2(ACD):c.1273C>G (p.Leu425Val)	ACD (L396V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774572	NM_001082486.2(ACD):c.1271C>T (p.Ser424Phe)	ACD (S395F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1136468	NM_001082486.2(ACD):c.1269G>A (p.Thr423=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1051569	NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)	ACD (T420M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1774492	NM_001082486.2(ACD):c.1266C>G (p.Cys422Trp)	ACD (C419W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774469	NM_001082486.2(ACD):c.1264T>C (p.Cys422Arg)	ACD (C422R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3232645	NM_001082486.2(ACD):c.1262C>A (p.Pro421His)	ACD (P392H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774353	NM_001082486.2(ACD):c.1260A>G (p.Pro420=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1774341	NM_001082486.2(ACD):c.1259C>T (p.Pro420Leu)	ACD (P391L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774336	NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)	ACD (P391R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1774305	NM_001082486.2(ACD):c.1257G>A (p.Glu419=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3261500	NM_001082486.2(ACD):c.1253A>G (p.Tyr418Cys)	ACD (Y389C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1404840	NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys)	ACD (Y416C +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2562319	NM_001082486.2(ACD):c.1246T>C (p.Tyr416His)	ACD (Y387H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773900	NM_001082486.2(ACD):c.1239C>T (p.Ala413=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773880	NM_001082486.2(ACD):c.1237G>A (p.Ala413Thr)	ACD (A413T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1060080	NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)	ACD (A410S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2562313	NM_001082486.2(ACD):c.1233T>C (p.Gly411=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773777	NM_001082486.2(ACD):c.1232G>T (p.Gly411Val)	ACD (G382V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136236	NM_001082486.2(ACD):c.1231G>A (p.Gly411Ser)	ACD (G408S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773736	NM_001082486.2(ACD):c.1231G>C (p.Gly411Arg)	ACD (G382R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 949293	NM_001082486.2(ACD):c.1226G>A (p.Arg409His)	ACD (R409H +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GUncertain significance
Select item 1773626	NM_001082486.2(ACD):c.1225C>T (p.Arg409Cys)	ACD (R406C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773608	NM_001082486.2(ACD):c.1224T>C (p.His408=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 968637	NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg)	ACD (K403R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1369787	NM_001082486.2(ACD):c.1211C>A (p.Pro404His)	ACD (P401H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 969534	NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu)	ACD (P401L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1773271	NM_001082486.2(ACD):c.1209A>G (p.Glu403=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2691972	NM_001082486.2(ACD):c.1204T>G (p.Trp402Gly)	ACD (W373G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1773106	NM_001082486.2(ACD):c.1201G>A (p.Val401Ile)	ACD (V372I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2586829	NM_001082486.2(ACD):c.1199C>T (p.Ser400Phe)	ACD (S397F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2419768	NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)	ACD (S371C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1773038	NM_001082486.2(ACD):c.1197C>T (p.Cys399=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773018	NM_001082486.2(ACD):c.1196G>T (p.Cys399Phe)	ACD (C399F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772978	NM_001082486.2(ACD):c.1194C>G (p.Pro398=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1772940	NM_001082486.2(ACD):c.1192C>T (p.Pro398Ser)	ACD (P398S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1772873	NM_001082486.2(ACD):c.1191G>T (p.Glu397Asp)	ACD (E394D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772822	NM_001082486.2(ACD):c.1189G>A (p.Glu397Lys)	ACD (E394K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772751	NM_001082486.2(ACD):c.1185C>T (p.Ala395=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1319343	NM_001082486.2(ACD):c.1181G>A (p.Gly394Glu)	ACD (G391E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2562320	NM_001082486.2(ACD):c.1172C>T (p.Ala391Val)	ACD (A362V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772401	NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)	ACD (G387E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1049325	NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)	ACD (G387R +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GConflicting classifications of pathogenicity
Select item 753424	NM_001082486.2(ACD):c.1167C>T (p.Thr389=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign

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