65057[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 1353871	NM_001013838.3(CARMIL2):c.4147G>A (p.Val1383Ile)	ACD, CARMIL2 (V1383I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228521	NC_000016.10:g.67657337G>A	ACD, CARMIL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317831	NM_001013838.3(CARMIL2):c.4195+39C>T	ACD, CARMIL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1147230	NM_001013838.3(CARMIL2):c.4305C>T (p.Pro1435=)	ACD, CARMIL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3256206	NM_001082486.2(ACD):c.*43T>C	ACD, CARMIL2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1235552	NM_001082486.2(ACD):c.*32T>A	ACD	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
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 2188748	NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)	ACD (M455K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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 1061414	NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu)	ACD (P454L +1 more)	Indel (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 475766	NM_001082486.2(ACD):c.1371G>T (p.Pro457=)	ACD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 2185290	NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)	ACD (P454T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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 1901743	NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)	ACD (P455S +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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 2765731	NM_001082486.2(ACD):c.1359T>C (p.Ser453=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
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 946723	NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)	ACD (F442S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 542416	NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)	ACD (P436S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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 723407	NM_001082486.2(ACD):c.1299-4C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 1622642	NM_001082486.2(ACD):c.1299-14T>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 1619892	NM_001082486.2(ACD):c.1299-16G>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2918645	NM_001082486.2(ACD):c.1299-19A>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 3256302	NM_001082486.2(ACD):c.1299-28T>C	ACD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1166998	NM_001082486.2(ACD):c.1298+20C>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GBenign
Select item 2985379	NM_001082486.2(ACD):c.1298+17G>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 1092152	NM_001082486.2(ACD):c.1298+9C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 1422369	NM_001082486.2(ACD):c.1298+1G>C	ACD	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 855163	NM_001082486.2(ACD):c.1297A>C (p.Arg433=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1167321	NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)	ACD (V429A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 765087	NM_001082486.2(ACD):c.1293T>C (p.Ala431=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
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 1938450	NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)	ACD (Q430R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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

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