ClinVar for Gene (Select 23414) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 377

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377991	NM_012082.4(ZFPM2):c.1484G>T (p.Gly495Val)	ZFPM2-AS1, ZFPM2 (G363V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368842	NM_012082.4(ZFPM2):c.2228A>G (p.Glu743Gly)	LOC126860469, ZFPM2 +1 more (E611G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367841	NM_012082.4(ZFPM2):c.673G>C (p.Asp225His)	ZFPM2, ZFPM2-AS1 (D172H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365332	NM_012082.4(ZFPM2):c.1875C>G (p.Cys625Trp)	ZFPM2, ZFPM2-AS1 (C493W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364722	NM_012082.4(ZFPM2):c.134G>A (p.Ser45Asn)	ZFPM2 (S45N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3364460	NM_012082.4(ZFPM2):c.2306C>T (p.Pro769Leu)	LOC126860469, ZFPM2 +1 more (P637L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364085	NM_012082.4(ZFPM2):c.563C>T (p.Ala188Val)	ZFPM2, ZFPM2-AS1 (A135V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363252	NM_012082.4(ZFPM2):c.3416A>G (p.Lys1139Arg)	ZFPM2, ZFPM2-AS1 (K1007R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359739	NM_012082.4(ZFPM2):c.1793A>T (p.Asn598Ile)	ZFPM2 (N466I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356187	NM_012082.4(ZFPM2):c.302-2A>C	ZFPM2	Single nucleotide variant (splice acceptor variant)	ZFPM2-related disorder	GLikely pathogenic
Select item 3350571	NM_012082.4(ZFPM2):c.2909G>C (p.Gly970Ala)	LOC126860469, ZFPM2 +1 more (G838A +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related disorder	GUncertain significance
Select item 3337755	NM_012082.4(ZFPM2):c.3137G>A (p.Gly1046Asp)	LOC126860469, ZFPM2 +1 more (G1046D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334561	NM_012082.4(ZFPM2):c.488A>C (p.Gln163Pro)	ZFPM2 (Q163P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334560	NM_012082.4(ZFPM2):c.2206C>G (p.Arg736Gly)	LOC126860469, ZFPM2 +1 more (R683G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334559	NM_012082.4(ZFPM2):c.434A>C (p.Gln145Pro)	ZFPM2 (Q145P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334558	NM_012082.4(ZFPM2):c.1666A>T (p.Thr556Ser)	ZFPM2-AS1, ZFPM2 (T503S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334557	NM_012082.4(ZFPM2):c.2713C>T (p.Pro905Ser)	LOC126860469, ZFPM2 +1 more (P773S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334556	NM_012082.4(ZFPM2):c.58A>G (p.Ile20Val)	ZFPM2 (I20V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3334555	NM_012082.4(ZFPM2):c.1527G>T (p.Met509Ile)	ZFPM2, ZFPM2-AS1 (M456I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251636	NM_012082.4(ZFPM2):c.3066T>A (p.Asn1022Lys)	LOC126860469, ZFPM2 +1 more (N1022K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235947	GRCh38/hg38 8q23.1(chr8:105628485-105634938)	ZFPM2	Copy number loss	Diaphragmatic hernia 3	GLikely pathogenic
Select item 3193306	NM_012082.4(ZFPM2):c.778C>T (p.Arg260Trp)	ZFPM2, ZFPM2-AS1 (R128W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193305	NM_012082.4(ZFPM2):c.358C>T (p.Leu120Phe)	ZFPM2 (L120F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3193303	NM_012082.4(ZFPM2):c.354G>T (p.Gln118His)	ZFPM2 (Q118H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3193302	NM_012082.4(ZFPM2):c.333A>C (p.Glu111Asp)	ZFPM2 (E58D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3193301	NM_012082.4(ZFPM2):c.3229T>G (p.Ser1077Ala)	LOC126860469, ZFPM2 +1 more (S945A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193300	NM_012082.4(ZFPM2):c.2468G>C (p.Cys823Ser)	LOC126860469, ZFPM2 +1 more (C823S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193299	NM_012082.4(ZFPM2):c.1402A>T (p.Thr468Ser)	ZFPM2, ZFPM2-AS1 (T336S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193298	NM_012082.4(ZFPM2):c.1358G>T (p.Arg453Ile)	ZFPM2, ZFPM2-AS1 (R321I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193296	NM_012082.4(ZFPM2):c.1196A>G (p.His399Arg)	ZFPM2, ZFPM2-AS1 (H346R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193295	NM_012082.4(ZFPM2):c.1039G>A (p.Val347Met)	ZFPM2, ZFPM2-AS1 (V347M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 disorder	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 disorder	GUncertain significance
Select item 3033583	NM_012082.4(ZFPM2):c.10C>T (p.Arg4Ter)	ZFPM2 (R4*)	Single nucleotide variant (nonsense)	ZFPM2-related disorder	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 disorder	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)	Inborn genetic diseases +1 more	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)	46,XY sex reversal 9	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)	46,XY sex reversal 9	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 +1 more	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)	46,XY sex reversal 9	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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

<< First< Prev

Page of 4