ClinVar for Gene (Select 57325) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3041647	NM_001164811.2(PET117):c.6T>C (p.Ser2=)	KAT14, PET117	Single nucleotide variant (synonymous variant +2 more)	PET117-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2652220	NM_001392073.1(KAT14):c.253C>T (p.Pro85Ser)	KAT14, PET117 (P85S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2652219	NM_001164811.2(PET117):c.63C>T (p.Ala21=)	KAT14, PET117	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2621468	NM_001164811.2(PET117):c.104G>C (p.Arg35Pro)	KAT14, PET117 (R35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2485870	NM_001164811.2(PET117):c.31C>T (p.Leu11Phe)	KAT14, PET117 (L11F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481442	NM_001164811.2(PET117):c.208G>A (p.Glu70Lys)	KAT14, PET117 (E70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427149	NC_000020.10:g.(?_17587682)_(18168103_?)del	PET117, MGME1 +6 more	Deletion	not provided	GPathogenic
Select item 2367731	NM_001392073.1(KAT14):c.2338C>T (p.Arg780Trp)	KAT14 (R759W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364237	NM_001164811.2(PET117):c.157C>T (p.Arg53Cys)	KAT14, PET117 (R53C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361110	NM_001392073.1(KAT14):c.1394A>G (p.Tyr465Cys)	KAT14 (Y465C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349715	NM_001164811.2(PET117):c.139C>T (p.Arg47Trp)	KAT14, PET117 (R47W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341747	NM_001392073.1(KAT14):c.2007G>C (p.Gln669His)	KAT14 (Q670H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251994	NM_001392073.1(KAT14):c.1778C>T (p.Thr593Ile)	KAT14 (T593I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248068	NM_001392073.1(KAT14):c.2291A>G (p.Tyr764Cys)	KAT14 (Y736C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205303	NM_001392073.1(KAT14):c.1744A>G (p.Met582Val)	KAT14 (M583V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	BANF2, BFSP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 981504	NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)	KAT14, PET117 (Q58*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 4 deficiency, nuclear type 19	GLikely pathogenic
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +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 726026	NM_001164811.2(PET117):c.157C>G (p.Arg53Gly)	KAT14, PET117 (R53G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564624	GRCh37/hg19 20p11.23(chr20:18164841-18500917)x3	SEC23B, POLR3F +4 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	CST11, CST2 +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)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 402155	NM_001392073.1(KAT14):c.1396G>A (p.Glu466Lys)	KAT14 (E467K +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
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	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 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 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41