DZANK1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +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	SPEF1, SPTLC3 +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	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
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 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 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2474593	NM_001367614.1(DZANK1):c.2242G>T (p.Asp748Tyr)	DZANK1 (D556Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480901	NM_001367614.1(DZANK1):c.2224G>T (p.Ala742Ser)	DZANK1 (A603S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327830	NM_001367614.1(DZANK1):c.2129T>C (p.Leu710Pro)	DZANK1 (L696P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231202	NM_001367614.1(DZANK1):c.2060A>G (p.Gln687Arg)	DZANK1, LOC126862986 (Q668R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303973	NM_001367614.1(DZANK1):c.2042C>T (p.Ala681Val)	DZANK1, LOC126862986 (A489V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483068	NM_001367614.1(DZANK1):c.1906A>G (p.Lys636Glu)	DZANK1 (K630E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304623	NM_001367614.1(DZANK1):c.1832G>A (p.Arg611Lys)	DZANK1 (R472K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406696	NM_001367614.1(DZANK1):c.1786A>G (p.Ser596Gly)	DZANK1 (S596G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086665	NM_001367614.1(DZANK1):c.1720G>A (p.Asp574Asn)	DZANK1 (D549N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086664	NM_001367614.1(DZANK1):c.1655T>A (p.Ile552Asn)	DZANK1 (I533N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409476	NM_001367614.1(DZANK1):c.1579C>T (p.Arg527Trp)	DZANK1 (R335W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217037	NM_001367614.1(DZANK1):c.1556A>T (p.Tyr519Phe)	DZANK1 (Y494F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293777	NM_001367614.1(DZANK1):c.1490C>A (p.Ala497Asp)	DZANK1 (A491D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357927	NM_001367614.1(DZANK1):c.1487C>T (p.Thr496Ile)	DZANK1 (T496I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602347	NM_001367614.1(DZANK1):c.1370G>A (p.Gly457Glu)	DZANK1 (G265E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517820	NM_001367614.1(DZANK1):c.1367T>A (p.Ile456Lys)	DZANK1 (I264K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086663	NM_001367614.1(DZANK1):c.1319C>T (p.Ser440Phe)	DZANK1 (S415F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086662	NM_001367614.1(DZANK1):c.1268T>C (p.Leu423Pro)	DZANK1 (L290P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086661	NM_001367614.1(DZANK1):c.1267C>G (p.Leu423Val)	DZANK1 (L231V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538888	NM_001367614.1(DZANK1):c.1039C>T (p.Pro347Ser)	DZANK1 (P155S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465813	NM_001367614.1(DZANK1):c.1019G>C (p.Cys340Ser)	DZANK1 (C148S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086677	NM_001367614.1(DZANK1):c.1016T>C (p.Met339Thr)	DZANK1 (M147T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342567	NM_001367614.1(DZANK1):c.1007A>T (p.Gln336Leu)	DZANK1 (Q317L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086676	NM_001367614.1(DZANK1):c.992C>A (p.Ala331Asp)	DZANK1 (A139D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59976	GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1	DZANK1, LOC126862987 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3086675	NM_001367614.1(DZANK1):c.877C>T (p.Leu293Phe)	DZANK1 (L101F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086674	NM_001367614.1(DZANK1):c.842T>G (p.Met281Arg)	DZANK1 (M262R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086673	NM_001367614.1(DZANK1):c.779G>A (p.Arg260His)	DZANK1 (R260H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293975	NM_001367614.1(DZANK1):c.740A>C (p.Gln247Pro)	DZANK1 (Q114P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562353	NM_001367614.1(DZANK1):c.709C>T (p.Arg237Trp)	DZANK1 (R218W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352155	NM_001367614.1(DZANK1):c.709C>G (p.Arg237Gly)	DZANK1 (R223G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086671	NM_001367614.1(DZANK1):c.700C>T (p.Leu234Phe)	DZANK1 (L42F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406480	NM_001367614.1(DZANK1):c.602C>A (p.Ser201Tyr)	DZANK1 (S182Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382504	NM_001367614.1(DZANK1):c.553G>C (p.Ala185Pro)	DZANK1 (A185P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535885	NM_001367614.1(DZANK1):c.401G>A (p.Gly134Glu)	DZANK1 (G134E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602695	NM_001367614.1(DZANK1):c.376C>G (p.Gln126Glu)	DZANK1 (Q126E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086669	NM_001367614.1(DZANK1):c.338A>G (p.Glu113Gly)	DZANK1 (E113G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521752	NM_001367614.1(DZANK1):c.311A>G (p.Tyr104Cys)	DZANK1 (Y104C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270291	NM_001367614.1(DZANK1):c.283A>G (p.Ile95Val)	DZANK1 (I95V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086668	NM_001367614.1(DZANK1):c.199A>G (p.Lys67Glu)	DZANK1 (K67E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086667	NM_001367614.1(DZANK1):c.190A>G (p.Asn64Asp)	DZANK1 (N64D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562457	NM_001367614.1(DZANK1):c.173T>A (p.Ile58Asn)	DZANK1 (I58N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613810	NM_001367614.1(DZANK1):c.44G>A (p.Arg15Gln)	DZANK1 (R15Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543713	NM_001367614.1(DZANK1):c.38C>T (p.Pro13Leu)	DZANK1 (P13L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086660	NM_001367614.1(DZANK1):c.11G>T (p.Gly4Val)	DZANK1 (G4V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
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 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 686712	GRCh37/hg19 20p11.23(chr20:18326965-18735636)x1	DTD1, DZANK1 +3 more	Copy number loss	not provided	GUncertain significance
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 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

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Items: 70