14969[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 3167324	NM_014426.4(SNX5):c.1195G>C (p.Asp399His)	SNX5 (D294H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167323	NM_014426.4(SNX5):c.1063G>A (p.Glu355Lys)	SNX5 (E355K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367545	NM_014426.4(SNX5):c.1031A>G (p.Gln344Arg)	SNX5 (Q239R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167322	NM_014426.4(SNX5):c.1027C>A (p.Gln343Lys)	SNX5 (Q238K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523671	NM_014426.4(SNX5):c.989G>A (p.Arg330Gln)	SNX5 (R330Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462276	NM_014426.4(SNX5):c.976C>G (p.Leu326Val)	SNX5 (L221V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167329	NM_014426.4(SNX5):c.974C>T (p.Ala325Val)	SNX5 (A325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167328	NM_014426.4(SNX5):c.956A>G (p.Tyr319Cys)	SNX5 (Y214C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321337	NM_014426.4(SNX5):c.949A>G (p.Ile317Val)	SNX5 (I317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227062	NM_014426.4(SNX5):c.934C>T (p.Arg312Cys)	SNX5 (R207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526836	NM_014426.4(SNX5):c.922C>G (p.Leu308Val)	SNX5 (L203V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620188	NM_014426.4(SNX5):c.919G>C (p.Asp307His)	SNX5 (D202H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327522	NM_014426.4(SNX5):c.916A>G (p.Lys306Glu)	SNX5 (K201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321336	NM_014426.4(SNX5):c.904A>G (p.Ile302Val)	SNX5 (I302V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409382	NM_014426.4(SNX5):c.902A>G (p.Asn301Ser)	SNX5 (N301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321334	NM_014426.4(SNX5):c.889T>A (p.Tyr297Asn)	SNX5 (Y192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335215	NM_014426.4(SNX5):c.883C>T (p.Leu295Phe)	SNX5 (L190F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321335	NM_014426.4(SNX5):c.697A>G (p.Met233Val)	SNX5 (M128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167327	NM_014426.4(SNX5):c.662A>G (p.Asn221Ser)	SNX5 (N116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167326	NM_014426.4(SNX5):c.479G>A (p.Arg160His)	SNX5 (R160H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606794	NM_014426.4(SNX5):c.292G>A (p.Asp98Asn)	SNX5 (D98N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465393	NM_014426.4(SNX5):c.278C>T (p.Ala93Val)	SNX5 (A93V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209452	NM_014426.4(SNX5):c.254A>G (p.Tyr85Cys)	SNX5 (Y85C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354166	NM_014426.4(SNX5):c.129C>G (p.Asp43Glu)	SNX5 (D43E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2524674	NM_014426.4(SNX5):c.83A>G (p.Asp28Gly)	SNX5 (D28G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2230808	NM_014426.4(SNX5):c.73C>G (p.Leu25Val)	SNX5 (L25V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167325	NM_014426.4(SNX5):c.43C>G (p.Arg15Gly)	SNX5 (R15G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248265	NC_000020.10:g.(?_17603729)_(18541384_?)del	RBBP9, RRBP1 +10 more	Deletion	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2427149	NC_000020.10:g.(?_17587682)_(18168103_?)del	BANF2, DSTN +6 more	Deletion	not provided	GPathogenic
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 979569	GRCh37/hg19 20p12.1-11.23(chr20:17845611-18089764)x3	SNX5, OVOL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52