37116[HGNC] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 3191780	NM_001136571.2(ZAR1L):c.907C>T (p.Arg303Cys)	ZAR1L (R303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535058	NM_001136571.2(ZAR1L):c.642G>T (p.Arg214Ser)	ZAR1L (R214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621638	NM_001136571.2(ZAR1L):c.641G>A (p.Arg214Lys)	ZAR1L (R214K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333795	NM_001136571.2(ZAR1L):c.637C>T (p.Arg213Trp)	ZAR1L (R213W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325891	NM_001136571.2(ZAR1L):c.635T>G (p.Leu212Arg)	ZAR1L (L212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597585	NM_001136571.2(ZAR1L):c.619G>A (p.Ala207Thr)	ZAR1L (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606556	NM_001136571.2(ZAR1L):c.568A>G (p.Lys190Glu)	ZAR1L (K190E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405818	NM_001136571.2(ZAR1L):c.451G>A (p.Glu151Lys)	ZAR1L (E151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350142	NM_001136571.2(ZAR1L):c.364G>T (p.Asp122Tyr)	ZAR1L (D122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258782	NM_001136571.2(ZAR1L):c.248T>C (p.Leu83Pro)	ZAR1L (L83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533596	NM_001136571.2(ZAR1L):c.242C>T (p.Pro81Leu)	ZAR1L (P81L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301781	NM_001136571.2(ZAR1L):c.196G>C (p.Ala66Pro)	ZAR1L (A66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519111	NM_001136571.2(ZAR1L):c.134C>G (p.Ala45Gly)	ZAR1L (A45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559314	NM_001136571.2(ZAR1L):c.124A>C (p.Thr42Pro)	ZAR1L (T42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286205	NM_001136571.2(ZAR1L):c.95C>A (p.Pro32His)	ZAR1L (P32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 209597	NM_000059.3(BRCA2):c.-764A>G	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 2170020	NC_000013.11:g.32315212G>A	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 209598	NM_000059.3(BRCA2):c.-481G>A	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 1168940	NC_000013.11:g.32315300G>A	BRCA2, LOC106721785 +1 more	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 2174981	NC_000013.11:g.32315355A>G	LOC106721785, ZAR1L +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 873424	NC_000013.11:g.32315358_32316294del	BRCA2, LOC106721785 +2 more	Deletion	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
Select item 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	B3GLCT, BRCA2 +12 more	Copy number gain	not provided	Gnot provided
Select item 1713206	NC_000013.10:g.32879403_32898814del	BRCA2, ZAR1L	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1713205	NC_000013.10:g.32308520_32940606del	BRCA2, FRY +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1339919	GRCh37/hg19 13q13.1(chr13:32788224-32896665)x3	BRCA2, FRY +1 more	Copy number gain	not provided	Gnot provided
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1180526	GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1	ALOX5AP, B3GLCT +22 more	Copy number loss	not provided	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979363	GRCh37/hg19 13q13.1(chr13:32838682-32971380)x3	BRCA2, FRY +1 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441635	GRCh37/hg19 13q12.3-13.1(chr13:31682663-33765790)x1	B3GLCT, BRCA2 +9 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 377385	GRCh37/hg19 13q12.3-13.1(chr13:32178877-33860144)x0	BRCA2, FRY +7 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253738	GRCh37/hg19 13q13.1(chr13:32666415-33109392)x4	ZAR1L, BRCA2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 71