"Ambry Genetics"[submitter] AND "ZFPM2"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1061068	NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)	ZFPM2 (P41A)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9 +2 more	GConflicting classifications of pathogenicity
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 1474338	NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu)	ZFPM2 (K55E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 1097947	NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu)	ZFPM2 (V146L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 942265	NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)	ZFPM2 (K23E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2304518	NM_012082.4(ZFPM2):c.562G>C (p.Ala188Pro)	ZFPM2, ZFPM2-AS1 (A135P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 857370	NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)	ZFPM2, ZFPM2-AS1 (L206P +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GUncertain significance
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 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 +1 more	GUncertain significance
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 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 1150026	NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg)	ZFPM2, ZFPM2-AS1 (P255R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2405225	NM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr)	ZFPM2, ZFPM2-AS1 (H267Y +2 more)	Single nucleotide variant (missense variant)	ZFPM2-related condition +1 more	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 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 2301127	NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)	ZFPM2, ZFPM2-AS1 (T318M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 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 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 +1 more	GUncertain significance
Select item 2142043	NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)	ZFPM2, ZFPM2-AS1 (G399D +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GUncertain significance
Select item 644327	NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)	ZFPM2, ZFPM2-AS1 (T498I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	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 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 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 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 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 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 2062989	NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)	LOC126860469, ZFPM2 +1 more (T804M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 700327	NM_012082.4(ZFPM2):c.2728G>A (p.Glu910Lys)	LOC126860469, ZFPM2 +1 more (E778K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 944916	NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn)	LOC126860469, ZFPM2 +1 more (D847N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 638874	NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn)	LOC126860469, ZFPM2 +1 more (S937N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 968743	NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser)	LOC126860469, ZFPM2 +1 more (G863S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GUncertain significance
Select item 1087046	NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val)	LOC126860469, ZFPM2 +1 more (A1026V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 2338720	NM_012082.4(ZFPM2):c.3373G>A (p.Asp1125Asn)	ZFPM2, ZFPM2-AS1 (D993N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 46