ClinVar for Gene (Select 23414) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067839	NM_012082.4(ZFPM2):c.2189A>G (p.Gln730Arg)	LOC126860469, ZFPM2 +1 more (Q598R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 3067633	NM_012082.4(ZFPM2):c.1480_1493del (p.Val494fs)	ZFPM2, ZFPM2-AS1 (V362fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061455	NM_012082.4(ZFPM2):c.1797T>C (p.Thr599=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	ZFPM2-related condition	GLikely benign
Select item 3045797	NM_012082.4(ZFPM2):c.2021G>A (p.Ser674Asn)	ZFPM2, ZFPM2-AS1 (S542N +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 3033583	NM_012082.4(ZFPM2):c.10C>T (p.Arg4Ter)	ZFPM2 (R4*)	Single nucleotide variant (nonsense)	ZFPM2-related condition	GLikely pathogenic
Select item 3030310	NM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala)	ZFPM2 (T41A +1 more)	Single nucleotide variant (missense variant +1 more)	ZFPM2-related condition	GLikely benign
Select item 2982770	NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)	LOC126860469, ZFPM2 +1 more (E1088K +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2978007	NM_012082.4(ZFPM2):c.40+11G>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 2977381	NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)	ZFPM2, ZFPM2-AS1 (S464G +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2967155	NM_012082.4(ZFPM2):c.420+15C>T	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 2917419	NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)	ZFPM2, ZFPM2-AS1 (I488T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2916290	NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)	ZFPM2, ZFPM2-AS1 (R263W +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2915136	NM_012082.4(ZFPM2):c.41-10C>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 2913638	NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)	ZFPM2, ZFPM2-AS1 (K339N +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2912787	NM_012082.4(ZFPM2):c.959A>G (p.His320Arg)	ZFPM2, ZFPM2-AS1 (H267R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2904854	NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)	LOC126860469, ZFPM2 +1 more (Q968E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2896039	NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)	ZFPM2, ZFPM2-AS1	Duplication (inframe_insertion)	46,XY sex reversal 9	GUncertain significance
Select item 2895767	NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2887144	NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)	LOC126860469, ZFPM2 +1 more (E1013Q +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2885987	NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2857123	NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2853037	NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)	LOC126860469, ZFPM2 +1 more (T718A +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2838011	NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)	LOC126860469, ZFPM2 +1 more (D759E +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition +1 more	GUncertain significance
Select item 2833889	NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)	LOC126860469, ZFPM2 +1 more (P584H +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2791606	NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2789780	NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)	ZFPM2 (D106E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2781915	NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)	ZFPM2, ZFPM2-AS1 (V499G +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2770632	NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)	ZFPM2, ZFPM2-AS1 (D343N +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition +1 more	GUncertain significance
Select item 2739373	NM_012082.4(ZFPM2):c.964+4A>C	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GUncertain significance
Select item 2737572	NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2734747	NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)	ZFPM2, ZFPM2-AS1 (A149G +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2732684	NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)	ZFPM2, ZFPM2-AS1 (P433S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2723970	NM_012082.4(ZFPM2):c.2562C>T (p.His854=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2719380	NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)	ZFPM2, ZFPM2-AS1 (S395G +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2717178	NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)	ZFPM2-AS1, LOC126860469 +1 more (H1020L +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2714515	NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)	ZFPM2, ZFPM2-AS1 (N155S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2714507	NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2713788	NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2713576	NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)	ZFPM2, ZFPM2-AS1 (F1008V +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2705374	NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	ZFPM2-related condition +1 more	GLikely benign
Select item 2702531	NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)	ZFPM2 (D81N +1 more)	Single nucleotide variant (missense variant +1 more)	46,XY sex reversal 9	GUncertain significance
Select item 2673158	NM_012082.4(ZFPM2):c.1756A>G (p.Ser586Gly)	ZFPM2, ZFPM2-AS1 (S454G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2662308	NM_012082.4(ZFPM2):c.2168C>A (p.Ser723Tyr)	LOC126860469, ZFPM2 +1 more (S591Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658744	NM_012082.4(ZFPM2):c.3208G>A (p.Glu1070Lys)	LOC126860469, ZFPM2 +1 more (E1017K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658743	NM_012082.4(ZFPM2):c.2638A>G (p.Thr880Ala)	LOC126860469, ZFPM2 +1 more (T748A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633609	NM_012082.4(ZFPM2):c.2159G>A (p.Arg720Lys)	LOC126860469, ZFPM2 +1 more (R588K +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 2632458	NM_012082.4(ZFPM2):c.963T>G (p.Ser321Arg)	ZFPM2, ZFPM2-AS1 (S189R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 2631095	NM_012082.4(ZFPM2):c.3377T>A (p.Ile1126Asn)	ZFPM2, ZFPM2-AS1 (I1073N +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 2630699	NM_012082.4(ZFPM2):c.1100A>G (p.His367Arg)	ZFPM2, ZFPM2-AS1 (H235R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 2629935	NM_012082.4(ZFPM2):c.3175C>T (p.Gln1059Ter)	LOC126860469, ZFPM2 +1 more (Q1006* +2 more)	Single nucleotide variant (nonsense)	ZFPM2-related condition	GUncertain significance
Select item 2629332	NM_012082.4(ZFPM2):c.1226A>G (p.Gln409Arg)	ZFPM2, ZFPM2-AS1 (Q277R +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 2629275	NM_012082.4(ZFPM2):c.662C>T (p.Ala221Val)	ZFPM2, ZFPM2-AS1 (A168V +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition	GUncertain significance
Select item 2628644	NM_012082.4(ZFPM2):c.251C>T (p.Ser84Leu)	ZFPM2 (S31L +1 more)	Single nucleotide variant (missense variant +1 more)	ZFPM2-related condition	GUncertain significance
Select item 2604411	NM_012082.4(ZFPM2):c.2733A>C (p.Arg911Ser)	LOC126860469, ZFPM2 +1 more (R858S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593053	NM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr)	ZFPM2 (D43Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2572676	NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter)	ZFPM2, ZFPM2-AS1 (R395* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2559051	NM_012082.4(ZFPM2):c.917G>A (p.Ser306Asn)	ZFPM2, ZFPM2-AS1 (S306N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544242	NM_012082.4(ZFPM2):c.2171A>G (p.Asn724Ser)	LOC126860469, ZFPM2 +1 more (N592S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533841	NM_012082.4(ZFPM2):c.2049C>G (p.Asp683Glu)	ZFPM2, ZFPM2-AS1 (D551E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518341	NM_012082.4(ZFPM2):c.2084C>T (p.Thr695Ile)	ZFPM2, ZFPM2-AS1 (T642I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514223	NM_012082.4(ZFPM2):c.1975A>C (p.Asn659His)	ZFPM2, ZFPM2-AS1 (N659H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506850	NM_012082.4(ZFPM2):c.1838C>T (p.Ser613Phe)	ZFPM2, ZFPM2-AS1 (S481F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502493	NM_012082.4(ZFPM2):c.423G>T (p.Lys141Asn)	ZFPM2 (K141N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497771	NM_012082.4(ZFPM2):c.125T>G (p.Leu42Trp)	ZFPM2 (L42W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2480041	NM_012082.4(ZFPM2):c.1237G>A (p.Asp413Asn)	ZFPM2, ZFPM2-AS1 (D281N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443659	NM_012082.4(ZFPM2):c.1655A>G (p.Glu552Gly)	ZFPM2, ZFPM2-AS1 (E420G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443579	NM_012082.4(ZFPM2):c.416C>A (p.Ser139Tyr)	ZFPM2 (S139Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441879	NM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro)	LOC126860469, ZFPM2 +1 more (A590P +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GUncertain significance
Select item 2438649	NM_012082.4(ZFPM2):c.665G>A (p.Arg222His)	ZFPM2, ZFPM2-AS1 (R169H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438648	NM_012082.4(ZFPM2):c.848T>C (p.Val283Ala)	ZFPM2, ZFPM2-AS1 (V151A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2425757	NC_000008.10:g.(?_106331170)_(106674812_?)dup	ZFPM2	Duplication	46,XY sex reversal 9	GUncertain significance
Select item 2424157	NC_000008.10:g.(?_104412639)_(106815766_?)dup	DCAF13, DCSTAMP +5 more	Duplication	not provided	GUncertain significance
Select item 2405225	NM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr)	ZFPM2, ZFPM2-AS1 (H267Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2354203	NM_012082.4(ZFPM2):c.2783A>G (p.Asn928Ser)	LOC126860469, ZFPM2 +1 more (N796S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338720	NM_012082.4(ZFPM2):c.3373G>A (p.Asp1125Asn)	ZFPM2-AS1, ZFPM2 (D993N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330233	NM_012082.4(ZFPM2):c.2161T>C (p.Ser721Pro)	LOC126860469, ZFPM2 +1 more (S589P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329983	NM_012082.4(ZFPM2):c.3087A>C (p.Lys1029Asn)	LOC126860469, ZFPM2 +1 more (K897N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315739	NM_012082.4(ZFPM2):c.1975A>G (p.Asn659Asp)	ZFPM2, ZFPM2-AS1 (N606D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304518	NM_012082.4(ZFPM2):c.562G>C (p.Ala188Pro)	ZFPM2-AS1, ZFPM2 (A135P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302062	NM_012082.4(ZFPM2):c.1931A>C (p.Lys644Thr)	ZFPM2, ZFPM2-AS1 (K644T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301127	NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)	ZFPM2, ZFPM2-AS1 (T318M +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GUncertain significance
Select item 2279732	NM_012082.4(ZFPM2):c.2914A>G (p.Ile972Val)	LOC126860469, ZFPM2 +1 more (I919V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253456	NM_012082.4(ZFPM2):c.2674G>A (p.Gly892Ser)	LOC126860469, ZFPM2 +1 more (G839S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2192836	NM_012082.4(ZFPM2):c.2355C>T (p.His785=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2185521	NM_012082.4(ZFPM2):c.420+16G>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 2151967	NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)	ZFPM2, ZFPM2-AS1 (M183I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2146910	NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 2146273	NM_012082.4(ZFPM2):c.1155T>C (p.His385=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2142043	NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)	ZFPM2, ZFPM2-AS1 (G399D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2138312	NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)	ZFPM2, ZFPM2-AS1 (P229L +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2120105	NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)	ZFPM2, ZFPM2-AS1 (Q576R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2106698	NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)	LOC126860469, ZFPM2 +1 more (D831E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2073600	NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)	ZFPM2 (C64Y)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GBenign
Select item 2069915	NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)	ZFPM2, ZFPM2-AS1 (S122F +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2063285	NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)	LOC126860469, ZFPM2 +1 more (N1109I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GUncertain significance
Select item 2062989	NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)	LOC126860469, ZFPM2 +1 more (T804M +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 2048396	NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2045191	NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GBenign

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