"Ambry Genetics"[submitter] AND "DZANK1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not specified	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 provided +1 more	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 3274251	NM_001367614.1(DZANK1):c.1224T>G (p.Cys408Trp)	DZANK1 (C216W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274250	NM_001367614.1(DZANK1):c.1058G>C (p.Gly353Ala)	DZANK1 (G339A +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 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 3274252	NM_001367614.1(DZANK1):c.778C>T (p.Arg260Cys)	DZANK1 (R127C +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 3274254	NM_001367614.1(DZANK1):c.182G>T (p.Gly61Val)	DZANK1 (G61V)	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

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Items: 48