ZFPM2[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1233669	NM_012082.4(ZFPM2):c.-73_-65dup	ZFPM2	Duplication (5 prime UTR variant)	not provided	GBenign
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 696237	NM_012082.4(ZFPM2):c.27C>G (p.Pro9=)	ZFPM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1558608	NM_012082.4(ZFPM2):c.40+12C>G	ZFPM2	Single nucleotide variant (intron variant)	Diaphragmatic hernia 3 +2 more	GBenign/Likely benign
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 544222	NM_012082.4(ZFPM2):c.41-4C>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 698860	NM_012082.4(ZFPM2):c.57C>T (p.Ala19=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
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 1102963	NM_012082.4(ZFPM2):c.72A>G (p.Glu24=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 1315740	NM_012082.4(ZFPM2):c.73G>A (p.Glu25Lys)	ZFPM2 (E25K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1058526	NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly)	ZFPM2 (E25G)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GUncertain significance
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 6128	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	ZFPM2 (E30G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
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 1061068	NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)	ZFPM2 (P41A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 633465	NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	ZFPM2 (E44K)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9 +1 more	GConflicting classifications of pathogenicity
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 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 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 1642653	NM_012082.4(ZFPM2):c.200-8T>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 544221	NM_012082.4(ZFPM2):c.240G>T (p.Gly80=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	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 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 1168530	NM_012082.4(ZFPM2):c.258A>G (p.Lys86=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GBenign
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 1538937	NM_012082.4(ZFPM2):c.261G>T (p.Pro87=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 696378	NM_012082.4(ZFPM2):c.285C>T (p.Asp95=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 240844	NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)	ZFPM2 (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	46,XY sex reversal 9 +1 more	GBenign
Select item 748848	NM_012082.4(ZFPM2):c.301+9G>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247031	NM_012082.4(ZFPM2):c.301+74A>G	ZFPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260177	NM_012082.4(ZFPM2):c.302-13C>T	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +3 more	GBenign
Select item 1089039	NM_012082.4(ZFPM2):c.302-5T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 1158050	NM_012082.4(ZFPM2):c.302-4G>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
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 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 6129	NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	ZFPM2 (R112* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1706571	NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)	ZFPM2 (R117* +1 more)	Single nucleotide variant (nonsense +1 more)	Diaphragmatic hernia 3	GPathogenic
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 1098979	NM_012082.4(ZFPM2):c.357A>G (p.Gln119=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
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 477991	NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)	ZFPM2 (V122L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1315831	NM_012082.4(ZFPM2):c.383C>T (p.Pro128Leu)	ZFPM2 (P128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2967155	NM_012082.4(ZFPM2):c.420+15C>T	ZFPM2	Single nucleotide variant (intron 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 1227492	NM_012082.4(ZFPM2):c.420+210C>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3235947	GRCh38/hg38 8q23.1(chr8:105628485-105634938)	ZFPM2	Copy number loss	Diaphragmatic hernia 3	GLikely pathogenic
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 1632186	NM_012082.4(ZFPM2):c.421-5T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
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 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 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 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 477992	NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile)	ZFPM2 (M148I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
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 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 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 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 1320846	NM_012082.4(ZFPM2):c.518T>C (p.Ile173Thr)	ZFPM2 (I120T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233767	NM_012082.4(ZFPM2):c.532+98A>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573815	NM_012082.4(ZFPM2):c.532+28227T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +1 more	GBenign
Select item 2425757	NC_000008.10:g.(?_106331170)_(106674812_?)dup	ZFPM2	Duplication	46,XY sex reversal 9	GUncertain significance
Select item 1708196	GRCh37/hg19 8q22.3-23.1(chr8:106055294-106708321)x3	ZFPM2	Copy number gain	See cases	GUncertain significance
Select item 688654	GRCh37/hg19 8q23.1(chr8:106353836-107257928)x3	ZFPM2	Copy number gain	not provided	GUncertain significance
Select item 443617	GRCh37/hg19 8q22.3-23.1(chr8:106058743-106717749)x3	ZFPM2	Copy number gain	See cases	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72