ClinVar for Gene (Select 57683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334207	NM_020923.3(ZDBF2):c.6774G>C (p.Arg2258Ser)	ZDBF2 (R2256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334206	NM_020923.3(ZDBF2):c.7039A>G (p.Lys2347Glu)	ZDBF2 (K2347E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334205	NM_020923.3(ZDBF2):c.596C>T (p.Pro199Leu)	ZDBF2 (P199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334204	NM_020923.3(ZDBF2):c.4679T>C (p.Ile1560Thr)	ZDBF2 (I1560T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334203	NM_020923.3(ZDBF2):c.3202C>G (p.Leu1068Val)	ZDBF2 (L1066V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334202	NM_020923.3(ZDBF2):c.1505C>T (p.Pro502Leu)	ZDBF2 (P500L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334200	NM_020923.3(ZDBF2):c.1481C>T (p.Thr494Met)	ZDBF2 (T492M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334199	NM_020923.3(ZDBF2):c.4431C>G (p.Asp1477Glu)	ZDBF2 (D1475E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334198	NM_020923.3(ZDBF2):c.3918A>C (p.Glu1306Asp)	ZDBF2 (E1304D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334197	NM_020923.3(ZDBF2):c.5397G>C (p.Arg1799Ser)	ZDBF2 (R1799S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334196	NM_020923.3(ZDBF2):c.5169G>C (p.Arg1723Ser)	ZDBF2 (R1721S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334195	NM_020923.3(ZDBF2):c.1150G>A (p.Asp384Asn)	ZDBF2 (D382N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334194	NM_020923.3(ZDBF2):c.4829A>G (p.Tyr1610Cys)	ZDBF2 (Y1608C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334193	NM_020923.3(ZDBF2):c.4001A>T (p.Asn1334Ile)	ZDBF2 (N1332I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334192	NM_020923.3(ZDBF2):c.4829A>T (p.Tyr1610Phe)	ZDBF2 (Y1608F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334189	NM_020923.3(ZDBF2):c.5036G>A (p.Arg1679Gln)	ZDBF2 (R1679Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334188	NM_020923.3(ZDBF2):c.4732T>C (p.Phe1578Leu)	ZDBF2 (F1576L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334187	NM_020923.3(ZDBF2):c.4036A>G (p.Ile1346Val)	ZDBF2 (I1346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334186	NM_020923.3(ZDBF2):c.874A>G (p.Met292Val)	ZDBF2 (M290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334185	NM_020923.3(ZDBF2):c.4316A>G (p.His1439Arg)	ZDBF2 (H1437R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334184	NM_020923.3(ZDBF2):c.6646C>T (p.Arg2216Trp)	ZDBF2 (R2214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192624	NM_020923.3(ZDBF2):c.6513A>C (p.Gln2171His)	ZDBF2 (Q2169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192623	NM_020923.3(ZDBF2):c.6161A>G (p.Glu2054Gly)	ZDBF2 (E2052G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192622	NM_020923.3(ZDBF2):c.6082C>A (p.Pro2028Thr)	ZDBF2 (P2026T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192621	NM_020923.3(ZDBF2):c.5833A>G (p.Ser1945Gly)	ZDBF2 (S1945G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192620	NM_020923.3(ZDBF2):c.5727G>T (p.Leu1909Phe)	ZDBF2 (L1907F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192619	NM_020923.3(ZDBF2):c.5683G>A (p.Glu1895Lys)	ZDBF2 (E1893K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192618	NM_020923.3(ZDBF2):c.5550T>G (p.Phe1850Leu)	ZDBF2 (F1848L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192617	NM_020923.3(ZDBF2):c.5309G>T (p.Arg1770Ile)	ZDBF2 (R1768I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192616	NM_020923.3(ZDBF2):c.5045A>G (p.Lys1682Arg)	ZDBF2 (K1682R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192615	NM_020923.3(ZDBF2):c.472A>C (p.Ser158Arg)	ZDBF2 (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192614	NM_020923.3(ZDBF2):c.4721G>A (p.Ser1574Asn)	ZDBF2 (S1572N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192612	NM_020923.3(ZDBF2):c.4502A>G (p.Asp1501Gly)	ZDBF2 (D1499G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192611	NM_020923.3(ZDBF2):c.442C>G (p.Pro148Ala)	ZDBF2 (P148A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192610	NM_020923.3(ZDBF2):c.4220A>C (p.Asp1407Ala)	ZDBF2 (D1405A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192608	NM_020923.3(ZDBF2):c.3907G>A (p.Ala1303Thr)	ZDBF2 (A1301T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192607	NM_020923.3(ZDBF2):c.3817T>G (p.Leu1273Val)	ZDBF2 (L1273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192606	NM_020923.3(ZDBF2):c.3692C>T (p.Thr1231Met)	ZDBF2 (T1231M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192605	NM_020923.3(ZDBF2):c.347A>T (p.Glu116Val)	ZDBF2 (E114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192604	NM_020923.3(ZDBF2):c.3418C>T (p.Leu1140Phe)	ZDBF2 (L1138F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192603	NM_020923.3(ZDBF2):c.3390A>T (p.Gln1130His)	ZDBF2 (Q1128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192602	NM_020923.3(ZDBF2):c.3271G>A (p.Val1091Ile)	ZDBF2 (V1089I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192601	NM_020923.3(ZDBF2):c.3241A>G (p.Thr1081Ala)	ZDBF2 (T1079A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192599	NM_020923.3(ZDBF2):c.2912C>T (p.Pro971Leu)	ZDBF2 (P969L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192598	NM_020923.3(ZDBF2):c.2891T>C (p.Leu964Pro)	ZDBF2 (L964P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192597	NM_020923.3(ZDBF2):c.2621C>T (p.Ser874Leu)	ZDBF2 (S874L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192596	NM_020923.3(ZDBF2):c.2147A>G (p.His716Arg)	ZDBF2 (H714R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192595	NM_020923.3(ZDBF2):c.184A>G (p.Ser62Gly)	ZDBF2 (S60G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192594	NM_020923.3(ZDBF2):c.1475C>T (p.Ser492Phe)	ZDBF2 (S490F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192593	NM_020923.3(ZDBF2):c.1460A>G (p.Tyr487Cys)	ZDBF2 (Y485C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3020140	NM_020923.3(ZDBF2):c.189-17C>T	ZDBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2998948	NM_020923.3(ZDBF2):c.2568G>A (p.Glu856=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972227	NM_020923.3(ZDBF2):c.453T>A (p.Phe151Leu)	ZDBF2 (F151L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965019	NM_020923.3(ZDBF2):c.310G>A (p.Glu104Lys)	ZDBF2 (E102K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959919	NM_020923.3(ZDBF2):c.6140G>A (p.Arg2047Gln)	ZDBF2 (R2045Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956640	NM_020923.3(ZDBF2):c.4475A>G (p.Gln1492Arg)	ZDBF2 (Q1492R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904149	NM_020923.3(ZDBF2):c.2376T>A (p.Phe792Leu)	ZDBF2 (F790L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901723	NM_020923.3(ZDBF2):c.1468AGT[1] (p.Ser492del)	ZDBF2 (S490del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2901495	NM_020923.3(ZDBF2):c.6838G>A (p.Glu2280Lys)	ZDBF2 (E2278K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899576	NM_020923.3(ZDBF2):c.5253G>T (p.Gln1751His)	ZDBF2 (Q1749H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897006	NM_020923.3(ZDBF2):c.384G>A (p.Thr128=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896129	NM_020923.3(ZDBF2):c.6856A>G (p.Met2286Val)	ZDBF2 (M2284V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891024	NM_020923.3(ZDBF2):c.6684G>A (p.Ser2228=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860582	NM_020923.3(ZDBF2):c.6211C>T (p.Pro2071Ser)	ZDBF2 (P2071S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2825874	NM_020923.3(ZDBF2):c.2160T>A (p.Asp720Glu)	ZDBF2 (D718E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823821	NM_020923.3(ZDBF2):c.296A>T (p.Asp99Val)	ZDBF2 (D99V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2805353	NM_020923.3(ZDBF2):c.930G>A (p.Pro310=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798770	NM_020923.3(ZDBF2):c.4090C>T (p.Pro1364Ser)	ZDBF2 (P1362S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785284	NM_020923.3(ZDBF2):c.4596C>T (p.Pro1532=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767240	NM_020923.3(ZDBF2):c.3701G>A (p.Arg1234Lys)	ZDBF2 (R1232K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764486	NM_020923.3(ZDBF2):c.1363G>T (p.Asp455Tyr)	ZDBF2 (D455Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2756173	NM_020923.3(ZDBF2):c.2299C>T (p.Leu767=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755627	NM_020923.3(ZDBF2):c.4768A>C (p.Thr1590Pro)	ZDBF2 (T1588P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2737641	NM_020923.3(ZDBF2):c.2956G>A (p.Ala986Thr)	ZDBF2 (A986T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730515	NM_020923.3(ZDBF2):c.72T>C (p.Ser24=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726863	NM_020923.3(ZDBF2):c.2794G>A (p.Glu932Lys)	ZDBF2 (E930K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2725092	NM_020923.3(ZDBF2):c.4884T>C (p.Asn1628=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2724156	NM_020923.3(ZDBF2):c.2334G>C (p.Leu778=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719981	NM_020923.3(ZDBF2):c.1368C>T (p.Asp456=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712199	NM_020923.3(ZDBF2):c.350T>G (p.Leu117Ter)	ZDBF2 (L117* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2710896	NM_020923.3(ZDBF2):c.324C>T (p.Ser108=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699084	NM_020923.3(ZDBF2):c.6020C>G (p.Ala2007Gly)	ZDBF2 (A2007G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651840	NM_020923.3(ZDBF2):c.4728C>T (p.Asp1576=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620991	NM_020923.3(ZDBF2):c.484T>G (p.Cys162Gly)	ZDBF2 (C162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608536	NM_020923.3(ZDBF2):c.3893A>G (p.Asn1298Ser)	ZDBF2 (N1296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604806	NM_020923.3(ZDBF2):c.4508A>G (p.Asp1503Gly)	ZDBF2 (D1501G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601459	NM_020923.3(ZDBF2):c.5456C>A (p.Ala1819Asp)	ZDBF2 (A1819D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596374	NM_020923.3(ZDBF2):c.2900C>T (p.Ala967Val)	ZDBF2 (A967V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2570053	NM_020923.3(ZDBF2):c.2884G>A (p.Val962Ile)	ZDBF2 (V962I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568820	NM_020923.3(ZDBF2):c.6155A>C (p.Tyr2052Ser)	ZDBF2 (Y2052S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559640	NM_020923.3(ZDBF2):c.6665T>C (p.Ile2222Thr)	ZDBF2 (I2220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558559	NM_020923.3(ZDBF2):c.4331A>G (p.Asn1444Ser)	ZDBF2 (N1444S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547906	NM_020923.3(ZDBF2):c.6448T>C (p.Phe2150Leu)	ZDBF2 (F2148L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547407	NM_020923.3(ZDBF2):c.3096G>T (p.Lys1032Asn)	ZDBF2 (K1032N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546735	NM_020923.3(ZDBF2):c.3026A>G (p.Tyr1009Cys)	ZDBF2 (Y1007C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544174	NM_020923.3(ZDBF2):c.835G>T (p.Gly279Cys)	ZDBF2 (G277C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543550	NM_020923.3(ZDBF2):c.1304G>A (p.Arg435His)	ZDBF2 (R435H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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