ClinVar for MedGen (Select 863566) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 201

<< First< Prev

Page of 3

	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 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 +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)	46,XY sex reversal 9 +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 +1 more	GUncertain significance
Select item 2717178	NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)	LOC126860469, ZFPM2 +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 disorder +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 2425757	NC_000008.10:g.(?_106331170)_(106674812_?)dup	ZFPM2	Duplication	46,XY sex reversal 9	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)	Inborn genetic diseases +2 more	GUncertain significance
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)	46,XY sex reversal 9 +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 +1 more	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)	Inborn genetic diseases +1 more	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
Select item 2043684	NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 2040286	NM_012082.4(ZFPM2):c.495G>A (p.Val165=)	ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1985696	NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1975446	NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1952345	NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 1949712	NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)	LOC126860469, ZFPM2 +1 more (D977E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1946934	NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1945871	NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)	LOC126860469, ZFPM2 +1 more (E873G +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GLikely benign
Select item 1945663	NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)	LOC126860469, ZFPM2 +1 more (V910L +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1914321	NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)	LOC126860469, ZFPM2 +1 more (R736H +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1914205	NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)	ZFPM2, ZFPM2-AS1 (P199S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1660264	NM_012082.4(ZFPM2):c.384G>A (p.Pro128=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 1642653	NM_012082.4(ZFPM2):c.200-8T>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 1639509	NM_012082.4(ZFPM2):c.1071T>C (p.His357=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1632186	NM_012082.4(ZFPM2):c.421-5T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 1622673	NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1622086	NM_012082.4(ZFPM2):c.660T>C (p.Pro220=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1620390	NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1613856	NM_012082.4(ZFPM2):c.965-11T>C	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 1612982	NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1612444	NM_012082.4(ZFPM2):c.740-19C>T	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 1592853	NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1590977	NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1574529	NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)	LOC126860469, ZFPM2 +1 more (K856T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +3 more	GLikely benign
Select item 1573815	NM_012082.4(ZFPM2):c.532+28227T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 1571218	NM_012082.4(ZFPM2):c.582G>A (p.Glu194=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	ZFPM2-related disorder +1 more	GLikely benign
Select item 1567862	NM_012082.4(ZFPM2):c.739+19G>A	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 1558608	NM_012082.4(ZFPM2):c.40+12C>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign
Select item 1550888	NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1538937	NM_012082.4(ZFPM2):c.261G>T (p.Pro87=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 1516718	NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1494404	NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala)	ZFPM2, ZFPM2-AS1 (S122A +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	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 1463649	NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met)	ZFPM2-AS1, LOC126860469 +1 more (T845M +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1451277	NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter)	ZFPM2, ZFPM2-AS1 (R258* +2 more)	Single nucleotide variant (nonsense)	46,XY sex reversal 9	GPathogenic
Select item 1448705	NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu)	ZFPM2, ZFPM2-AS1 (V565L +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1429169	NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser)	ZFPM2, ZFPM2-AS1 (F145S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1428059	NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser)	ZFPM2-AS1, LOC126860469 +1 more (N789S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1416462	NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg)	ZFPM2, ZFPM2-AS1 (G494R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1407804	NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg)	LOC126860469, ZFPM2 +1 more (H745R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1398967	NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly)	LOC126860469, ZFPM2 +1 more (R717G +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1382710	NM_012082.4(ZFPM2):c.442A>G (p.Met148Val)	ZFPM2 (M95V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1371484	NM_012082.4(ZFPM2):c.421-10C>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GUncertain significance
Select item 1349234	NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu)	LOC126860469, ZFPM2 +1 more (G867E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 1299632	NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp)	ZFPM2 (C64W)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely pathogenic
Select item 1168530	NM_012082.4(ZFPM2):c.258A>G (p.Lys86=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	ZFPM2-related disorder +1 more	GBenign/Likely benign
Select item 1167133	NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9 +1 more	GBenign/Likely benign

<< First< Prev

Page of 3