28714[HGNC] - ClinVar

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Search results

Items: 57

	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 2209262	NM_033309.3(B3GNT9):c.1096G>C (p.Gly366Arg)	B3GNT9 (G366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259057	NM_033309.3(B3GNT9):c.1042C>T (p.Pro348Ser)	B3GNT9 (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359846	NM_033309.3(B3GNT9):c.1037C>T (p.Ala346Val)	B3GNT9 (A346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321911	NM_033309.3(B3GNT9):c.1003G>T (p.Ala335Ser)	B3GNT9 (A335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533010	NM_033309.3(B3GNT9):c.977T>G (p.Leu326Arg)	B3GNT9 (L326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259079	NM_033309.3(B3GNT9):c.920C>T (p.Ala307Val)	B3GNT9 (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216615	NM_033309.3(B3GNT9):c.856T>C (p.Tyr286His)	B3GNT9 (Y286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259046	NM_033309.3(B3GNT9):c.784C>T (p.Arg262Trp)	B3GNT9 (R262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303324	NM_033309.3(B3GNT9):c.757C>A (p.Leu253Ile)	B3GNT9 (L253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608870	NM_033309.3(B3GNT9):c.649G>C (p.Ala217Pro)	B3GNT9 (A217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132622	NM_033309.3(B3GNT9):c.638C>G (p.Ala213Gly)	B3GNT9 (A213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240363	NM_033309.3(B3GNT9):c.587C>A (p.Ala196Asp)	B3GNT9 (A196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259068	NM_033309.3(B3GNT9):c.427G>A (p.Gly143Ser)	B3GNT9 (G143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525861	NM_033309.3(B3GNT9):c.401C>T (p.Ala134Val)	B3GNT9 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275754	NM_033309.3(B3GNT9):c.287T>C (p.Phe96Ser)	B3GNT9 (F96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264408	NM_033309.3(B3GNT9):c.256C>G (p.Arg86Gly)	B3GNT9 (R86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395213	NM_033309.3(B3GNT9):c.236C>T (p.Thr79Met)	B3GNT9 (T79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132621	NM_033309.3(B3GNT9):c.118C>G (p.Arg40Gly)	B3GNT9, LOC130059177 (R40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521245	NM_033309.3(B3GNT9):c.91G>C (p.Gly31Arg)	B3GNT9, LOC130059177 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312764	NM_033309.3(B3GNT9):c.91G>A (p.Gly31Ser)	B3GNT9, LOC130059177 (G31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259035	NM_033309.3(B3GNT9):c.20T>C (p.Leu7Pro)	B3GNT9, LOC130059177 (L7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234446	NM_033309.3(B3GNT9):c.16C>T (p.Arg6Cys)	B3GNT9, LOC130059177 (R6C)	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 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
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: 57