ZFPM2-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
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 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57335	GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1	ABRA, ANGPT1 +30 more	Copy number loss	See cases	GPathogenic
Select item 153925	GRCh38/hg38 8q22.3-23.1(chr8:105081855-105886355)x3	LINC03084, LOC110120608 +7 more	Copy number gain	See cases	GUncertain significance
Select item 149214	GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3	LOC110121208, LOC113783881 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148739	GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3	LOC110121208, LOC113783881 +8 more	Copy number gain	See cases	GLikely benign
Select item 544226	NM_012082.4(ZFPM2):c.533-4A>T	ZFPM2-AS1, ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +1 more	GBenign
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 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 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 1571218	NM_012082.4(ZFPM2):c.582G>A (p.Glu194=)	ZFPM2-AS1, ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
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 857370	NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)	ZFPM2, ZFPM2-AS1 (L206P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 260179	NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)	ZFPM2, ZFPM2-AS1 (S210T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 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 1008833	NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys)	ZFPM2, ZFPM2-AS1 (R169C +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	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 39517	NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met)	ZFPM2, ZFPM2-AS1 (I227M +2 more)	Single nucleotide variant (missense variant)	Double outlet right ventricle	GPathogenic
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 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 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 700577	NM_012082.4(ZFPM2):c.740-4G>T	ZFPM2, ZFPM2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 156584	NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)	ZFPM2, ZFPM2-AS1 (R260Q +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GPathogenic
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 414005	NM_012082.4(ZFPM2):c.822T>C (p.Ser274=)	ZFPM2, ZFPM2-AS1	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 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 697403	NM_012082.4(ZFPM2):c.846G>A (p.Pro282=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 2438648	NM_012082.4(ZFPM2):c.848T>C (p.Val283Ala)	ZFPM2, ZFPM2-AS1 (V151A +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 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 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 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 414004	NM_012082.4(ZFPM2):c.965-9TC[2]	ZFPM2, ZFPM2-AS1	Microsatellite (intron variant)	46,XY sex reversal 9 +1 more	GBenign
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 817324	NM_012082.4(ZFPM2):c.993del (p.Gly332fs)	ZFPM2-AS1, ZFPM2 (G200fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 805892	NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)	ZFPM2, ZFPM2-AS1 (L203V +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GBenign
Select item 711397	NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=)	ZFPM2-AS1, ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 701941	NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 695890	NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile)	ZFPM2-AS1, ZFPM2 (V286I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 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 1030220	NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr)	ZFPM2, ZFPM2-AS1 (N217T +2 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
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 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 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 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 1150026	NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg)	ZFPM2, ZFPM2-AS1 (P255R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1085231	NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 414007	NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 633466	NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	ZFPM2, ZFPM2-AS1 (K390Q +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 3	GUncertain significance
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 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 2405225	NM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr)	ZFPM2, ZFPM2-AS1 (H267Y +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 156583	NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)	ZFPM2, ZFPM2-AS1 (S402R +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GPathogenic
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 660176	NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro)	ZFPM2, ZFPM2-AS1 (T351P +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 3473523	NM_012082.4(ZFPM2):c.1211C>A (p.Thr404Asn)	ZFPM2, ZFPM2-AS1 (T272N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1088834	NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
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 544223	NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His)	ZFPM2, ZFPM2-AS1 (Q409H +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GConflicting classifications of pathogenicity
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 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 805891	NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys)	ZFPM2, ZFPM2-AS1 (E287K +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GBenign
Select item 644422	NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met)	ZFPM2, ZFPM2-AS1 (K293M +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance

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