"GeneDx"[submitter] AND "ZFPM2"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 1233669	NM_012082.4(ZFPM2):c.-73_-65dup	ZFPM2	Duplication (5 prime UTR variant)	not provided	GBenign
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 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 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 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 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 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 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 1227492	NM_012082.4(ZFPM2):c.420+210C>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	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 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 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 1318760	NM_012082.4(ZFPM2):c.625G>A (p.Ala209Thr)	ZFPM2-AS1, ZFPM2 (A156T +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 696409	NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)	ZFPM2, ZFPM2-AS1 (I174V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1182785	NM_012082.4(ZFPM2):c.740-344_740-341dup	ZFPM2, ZFPM2-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 987903	NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)	ZFPM2, ZFPM2-AS1 (C123fs +2 more)	Duplication (frameshift variant)	Diaphragmatic hernia 3 +1 more	GPathogenic/Likely pathogenic
Select item 1262051	NM_012082.4(ZFPM2):c.964+79G>A	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253560	NM_012082.4(ZFPM2):c.964+306A>G	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817324	NM_012082.4(ZFPM2):c.993del (p.Gly332fs)	ZFPM2-AS1, ZFPM2 (G200fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 260170	NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)	ZFPM2, ZFPM2-AS1 (A403G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 260171	NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 503850	NM_012082.4(ZFPM2):c.1400dup (p.Tyr467Ter)	ZFPM2, ZFPM2-AS1 (Y467* +2 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1318639	NM_012082.4(ZFPM2):c.1450G>A (p.Val484Ile)	ZFPM2, ZFPM2-AS1 (V352I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377991	NM_012082.4(ZFPM2):c.1484G>T (p.Gly495Val)	ZFPM2, ZFPM2-AS1 (G363V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450054	NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr)	ZFPM2, ZFPM2-AS1 (I507T +2 more)	Single nucleotide variant (missense variant)	not provided	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 452337	NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile)	ZFPM2-AS1, ZFPM2 (M544I +2 more)	Single nucleotide variant (missense variant)	not provided	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 1320815	NM_012082.4(ZFPM2):c.1672AAT[1] (p.Asn559del)	ZFPM2-AS1, ZFPM2 (N427del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 260172	NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=)	ZFPM2-AS1, ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9 +2 more	GBenign
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 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 1320884	NM_012082.4(ZFPM2):c.2093G>A (p.Arg698Gln)	ZFPM2, ZFPM2-AS1 (R566Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 260174	NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)	LOC126860469, ZFPM2 +1 more (E782D +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign
Select item 1318932	NM_012082.4(ZFPM2):c.2357C>T (p.Pro786Leu)	LOC126860469, ZFPM2 +1 more (P654L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817486	NM_012082.4(ZFPM2):c.2382_2383insA (p.Val795fs)	LOC126860469, ZFPM2 +1 more (V742fs +2 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 260175	NM_012082.4(ZFPM2):c.2385C>G (p.Val795=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1317525	NM_012082.4(ZFPM2):c.2482G>A (p.Val828Met)	LOC126860469, ZFPM2 +1 more (V696M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707068	NM_012082.4(ZFPM2):c.2499C>A (p.Ser833Arg)	LOC126860469, ZFPM2 +1 more (S701R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197328	NM_012082.4(ZFPM2):c.2537C>T (p.Ser846Phe)	LOC126860469, ZFPM2 +1 more (S714F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318719	NM_012082.4(ZFPM2):c.2705G>A (p.Arg902Gln)	LOC126860469, ZFPM2 +1 more (R770Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260176	NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 1318334	NM_012082.4(ZFPM2):c.3358T>C (p.Tyr1120His)	ZFPM2, ZFPM2-AS1 (Y1067H +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

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Items: 55