28455[HGNC] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 34317	GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	CENPBD1, DBNDD1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 148919	GRCh38/hg38 16q24.3(chr16:89939453-90096995)x1	CENPBD1, DBNDD1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 3080193	NM_001042610.3(DBNDD1):c.473A>C (p.Asp158Ala)	DBNDD1 (D158A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617547	NM_001042610.3(DBNDD1):c.443C>T (p.Thr148Met)	DBNDD1 (T168M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270925	NM_001042610.3(DBNDD1):c.427G>A (p.Ala143Thr)	DBNDD1 (A61T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080192	NM_001042610.3(DBNDD1):c.395A>G (p.Glu132Gly)	DBNDD1 (E132G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080191	NM_001042610.3(DBNDD1):c.385C>G (p.Gln129Glu)	DBNDD1 (Q129E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385623	NM_001042610.3(DBNDD1):c.353G>A (p.Arg118His)	DBNDD1 (R138H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234573	NM_001042610.3(DBNDD1):c.338G>A (p.Arg113Gln)	DBNDD1 (R31Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601423	NM_001042610.3(DBNDD1):c.282C>G (p.Asp94Glu)	DBNDD1 (D114E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372846	NM_001042610.3(DBNDD1):c.193G>A (p.Val65Ile)	DBNDD1 (V85I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488192	NM_001042610.3(DBNDD1):c.158T>C (p.Leu53Pro)	DBNDD1 (L73P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363018	NM_001042610.3(DBNDD1):c.149C>T (p.Pro50Leu)	DBNDD1 (P70L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274509	NM_001042610.3(DBNDD1):c.120G>T (p.Glu40Asp)	DBNDD1 (E40D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080190	NM_001042610.3(DBNDD1):c.79G>A (p.Ala27Thr)	DBNDD1 (A47T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406048	NM_001042610.3(DBNDD1):c.56C>T (p.Pro19Leu)	DBNDD1 (P19L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405755	NM_001042610.3(DBNDD1):c.45G>C (p.Glu15Asp)	DBNDD1 (E35D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213308	NM_001042610.3(DBNDD1):c.43G>A (p.Glu15Lys)	DBNDD1 (E35K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080194	NM_001042610.3(DBNDD1):c.32-547C>T	DBNDD1 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243229	NC_000016.9:g.(?_89865554)_(90109753_?)del	CENPBD1, DBNDD1 +8 more	Deletion	Fanconi anemia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	CDK10, CENPBD1 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
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 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
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 689200	GRCh37/hg19 16q24.3(chr16:90081509-90155062)x1	DBNDD1, GAS8 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687183	GRCh37/hg19 16q24.3(chr16:89991078-90155062)x3	CENPBD1, DBNDD1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686524	GRCh37/hg19 16q24.3(chr16:90080098-90134747)x1	DBNDD1, GAS8 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564372	GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3	GAS8, GAS8-AS1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 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 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 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
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 393929	GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3	CENPBD1, DBNDD1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 253762	GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1	SPIRE2, TUBB3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 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
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 73