79767[Gene ID] - ClinVar

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Items: 90

	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 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	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 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 2304148	NM_024712.5(ELMO3):c.-119C>G	ELMO3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2484022	NM_024712.5(ELMO3):c.-77G>A	ELMO3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2259194	NM_024712.5(ELMO3):c.-11C>T	ELMO3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2375371	NM_024712.5(ELMO3):c.4G>A (p.Ala2Thr)	ELMO3 (A2T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375372	NM_024712.5(ELMO3):c.20T>C (p.Val7Ala)	ELMO3 (V7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088342	NM_024712.5(ELMO3):c.23T>C (p.Val8Ala)	ELMO3 (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274803	NC_000016.10:g.67199363A>C	E2F4, ELMO3 (K13Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2589323	NM_024712.5(ELMO3):c.43C>T (p.Arg15Cys)	ELMO3 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275177	NM_024712.5(ELMO3):c.52A>G (p.Ile18Val)	ELMO3 (I18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362061	NM_024712.5(ELMO3):c.86C>T (p.Pro29Leu)	ELMO3 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088343	NM_024712.5(ELMO3):c.116A>G (p.Asp39Gly)	ELMO3 (D39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479809	NM_024712.5(ELMO3):c.185C>T (p.Thr62Ile)	ELMO3 (T62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364173	NM_024712.5(ELMO3):c.191A>G (p.Asn64Ser)	ELMO3 (N64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275180	NM_024712.5(ELMO3):c.197G>A (p.Arg66His)	ELMO3 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088344	NM_024712.5(ELMO3):c.241C>G (p.Pro81Ala)	ELMO3 (P81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556141	NM_024712.5(ELMO3):c.241C>T (p.Pro81Ser)	ELMO3 (P81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275173	NM_024712.5(ELMO3):c.368G>A (p.Arg123His)	ELMO3 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338585	NM_024712.5(ELMO3):c.469G>A (p.Gly157Ser)	ELMO3 (G157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088345	NM_024712.5(ELMO3):c.479C>T (p.Ser160Phe)	ELMO3 (S160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428616	NM_024712.5(ELMO3):c.481T>G (p.Trp161Gly)	ELMO3 (W161G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2368139	NM_024712.5(ELMO3):c.553G>A (p.Val185Met)	ELMO3 (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275174	NM_024712.5(ELMO3):c.674A>T (p.Gln225Leu)	ELMO3 (Q225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592744	NM_024712.5(ELMO3):c.694A>G (p.Met232Val)	ELMO3 (M232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592745	NM_024712.5(ELMO3):c.754G>A (p.Asp252Asn)	ELMO3 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462275	NM_024712.5(ELMO3):c.791A>G (p.Tyr264Cys)	ELMO3 (Y264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024909	NM_024712.5(ELMO3):c.850G>A (p.Val284Ile)	ELMO3 (V284I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3275178	NM_024712.5(ELMO3):c.862C>T (p.Leu288Phe)	ELMO3 (L288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226179	NM_024712.5(ELMO3):c.866T>C (p.Met289Thr)	ELMO3 (M289T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412086	NM_024712.5(ELMO3):c.886C>T (p.Arg296Cys)	ELMO3 (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508180	NM_024712.5(ELMO3):c.896C>T (p.Thr299Met)	ELMO3 (T299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263431	NM_024712.5(ELMO3):c.940G>A (p.Val314Ile)	ELMO3 (V314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646615	NM_024712.5(ELMO3):c.981G>A (p.Ser327=)	ELMO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088339	NM_024712.5(ELMO3):c.1006C>T (p.Arg336Cys)	ELMO3 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598357	NM_024712.5(ELMO3):c.1063G>A (p.Ala355Thr)	ELMO3 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222983	NM_024712.5(ELMO3):c.1085C>T (p.Pro362Leu)	ELMO3 (P362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561011	NM_024712.5(ELMO3):c.1132G>A (p.Ala378Thr)	ELMO3 (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515588	NM_024712.5(ELMO3):c.1150C>T (p.Arg384Trp)	ELMO3 (R384W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291280	NM_024712.5(ELMO3):c.1183A>G (p.Lys395Glu)	ELMO3 (K395E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088340	NM_024712.5(ELMO3):c.1186C>T (p.His396Tyr)	ELMO3 (H396Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275175	NM_024712.5(ELMO3):c.1223C>T (p.Thr408Met)	ELMO3 (T408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316283	NM_024712.5(ELMO3):c.1252G>A (p.Gly418Arg)	ELMO3 (G418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267849	NM_024712.5(ELMO3):c.1319A>G (p.His440Arg)	ELMO3 (H440R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332764	NM_024712.5(ELMO3):c.1508G>A (p.Arg503Gln)	ELMO3 (R503Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608563	NM_024712.5(ELMO3):c.1571G>A (p.Arg524Gln)	ELMO3 (R524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088341	NM_024712.5(ELMO3):c.1624C>T (p.Arg542Cys)	ELMO3 (R542C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524532	NM_024712.5(ELMO3):c.1663C>T (p.Arg555Trp)	ELMO3 (R555W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870811	NM_024712.5(ELMO3):c.1780+1G>A	ELMO3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3275181	NM_024712.5(ELMO3):c.1804C>T (p.Leu602Phe)	ELMO3 (L602F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275176	NM_024712.5(ELMO3):c.1834C>G (p.Arg612Gly)	ELMO3 (R612G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222915	NM_024712.5(ELMO3):c.1834C>T (p.Arg612Trp)	ELMO3 (R612W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375658	NM_024712.5(ELMO3):c.1835G>A (p.Arg612Gln)	ELMO3 (R612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208045	NM_024712.5(ELMO3):c.1901G>A (p.Arg634His)	ELMO3 (R634H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409846	NM_024712.5(ELMO3):c.2005G>A (p.Glu669Lys)	ELMO3 (E669K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410256	NM_024712.5(ELMO3):c.2123A>G (p.Asn708Ser)	ELMO3 (N708S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518365	NM_024712.5(ELMO3):c.2144G>T (p.Cys715Phe)	ELMO3 (C715F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607905	NM_024712.5(ELMO3):c.2152G>C (p.Ala718Pro)	ELMO3 (A718P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 90