"GeneDx"[submitter] AND "PMM2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 1258116	NC_000016.10:g.8797584C>A	PMM2, TMEM186	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212443	NM_000303.2(PMM2):c.-298C>T	PMM2, TMEM186	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1326750	NM_000303.2(PMM2):c.-291C>A	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 702357	NM_015421.4(TMEM186):c.1A>G (p.Met1Val)	PMM2, TMEM186 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 656718	NC_000016.10:g.8797716G>T	PMM2	Single nucleotide variant	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 515627	NM_000303.3(PMM2):c.-35A>T	PMM2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 386292	NM_000303.3(PMM2):c.-15C>G	PMM2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1311376	NM_000303.3(PMM2):c.-1dup (p.Met1fs)	PMM2 (M1fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2430513	NM_000303.3(PMM2):c.8C>T (p.Ala3Val)	PMM2 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 188744	NM_000303.3(PMM2):c.24del (p.Cys9fs)	PMM2 (C9fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 1699797	NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)	PMM2 (D14N)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 557455	NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	PMM2 (G15R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 521048	NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	PMM2 (T18S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 689645	NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	PMM2 (P20S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193080	NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	PMM2 (R21W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 632948	NM_000303.3(PMM2):c.66+1G>T	PMM2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 639844	NM_000303.3(PMM2):c.66+5G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1258936	NM_000303.3(PMM2):c.66+180G>C	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180926	NM_000303.3(PMM2):c.66+209C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign
Select item 1270331	NM_000303.3(PMM2):c.67-300A>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292313	NM_000303.3(PMM2):c.67-120A>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186087	NM_000303.3(PMM2):c.67-119T>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 285859	NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)	PMM2 (D30E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 425093	NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	PMM2 (F31L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 290872	NM_000303.3(PMM2):c.93C>T (p.Phe31=)	PMM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92807	NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)	PMM2 (L32R)	Indel (missense variant)	not provided +2 more	GPathogenic
Select item 803211	NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	PMM2 (Q33*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632947	NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	PMM2 (Q37*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 321215	NM_000303.3(PMM2):c.110A>T (p.Gln37Leu)	PMM2 (Q37L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 555844	NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	PMM2 (G42R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1219633	NM_000303.3(PMM2):c.149A>T (p.Glu50Val)	PMM2 (E50V)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 379715	NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	PMM2 (Q53*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929131	NM_000303.3(PMM2):c.160dup (p.Glu54fs)	PMM2 (E54fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 530390	NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	PMM2 (V60L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1212787	NM_000303.3(PMM2):c.178+21T>G	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234913	NM_000303.3(PMM2):c.178+142C>A	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225058	NM_000303.3(PMM2):c.178+299G>C	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235446	NM_000303.3(PMM2):c.178+327G>A	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230833	NM_000303.3(PMM2):c.179-166A>G	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92799	NM_000303.3(PMM2):c.179-15dup	PMM2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 371307	NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	PMM2 (P69S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1800690	NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)	PMM2 (G79R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986866	NM_000303.3(PMM2):c.255G>A (p.Gln85=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 417920	NM_000303.3(PMM2):c.255+1G>A	PMM2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 321216	NM_000303.3(PMM2):c.255+2T>C	PMM2	Single nucleotide variant (splice donor variant)	Intellectual disability +3 more	GPathogenic
Select item 1292288	NM_000303.3(PMM2):c.255+111A>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208408	NM_000303.3(PMM2):c.255+153A>G	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234907	NM_000303.3(PMM2):c.255+272C>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208461	NM_000303.3(PMM2):c.255+278G>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214764	NM_000303.3(PMM2):c.256-133G>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379257	NM_000303.3(PMM2):c.310C>G (p.Leu104Val)	PMM2 (L104V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 92800	NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	PMM2 (A108V)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 503676	NM_000303.3(PMM2):c.324del (p.Ile110fs)	PMM2 (I110fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 129976	NM_000303.3(PMM2):c.324G>A (p.Ala108=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +2 more	GBenign
Select item 420784	NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)	PMM2 (P113T)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1329635	NM_000303.3(PMM2):c.347+5G>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 255805	NM_000303.3(PMM2):c.347+40G>A	PMM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1269185	NM_000303.3(PMM2):c.347+172C>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292463	NM_000303.3(PMM2):c.348-101C>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 495797	NM_000303.3(PMM2):c.348-58_348-56dup	PMM2	Duplication (intron variant)	not provided	GBenign
Select item 389180	NM_000303.3(PMM2):c.348-19G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 391436	NM_000303.3(PMM2):c.348-8A>G	PMM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 7711	NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	PMM2 (F119L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 281078	NM_000303.3(PMM2):c.366C>T (p.Phe122=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 429981	NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)	PMM2 (R123*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265255	NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	PMM2 (R123Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7708	NM_000303.3(PMM2):c.385G>A (p.Val129Met)	PMM2 (V129M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 545732	NM_000303.3(PMM2):c.392del (p.Pro131fs)	PMM2 (P131fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 21143	NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	PMM2 (E139K)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 550780	NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	PMM2 (R141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type I +4 more	GPathogenic/Likely pathogenic
Select item 197658	NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	PMM2 (F144L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 197659	NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	PMM2 (D148N)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +3 more	GPathogenic/Likely pathogenic
Select item 1702671	NM_000303.3(PMM2):c.445A>G (p.Lys149Glu)	PMM2 (K149E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 321217	NM_000303.3(PMM2):c.447+4C>T	PMM2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 418663	NM_000303.3(PMM2):c.447+5G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 92802	NM_000303.3(PMM2):c.447+19T>C	PMM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255807	NM_000303.3(PMM2):c.447+22T>A	PMM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1178099	NM_000303.3(PMM2):c.447+147A>G	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250718	NM_000303.3(PMM2):c.447+187A>C	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513967	NM_000303.3(PMM2):c.448-20dup	PMM2	Duplication (intron variant)	not specified	GLikely benign
Select item 371406	NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	PMM2 (I153T)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 188763	NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	PMM2 (F157S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 7709	NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	PMM2 (R162W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1205336	NM_000303.3(PMM2):c.523+52T>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198519	NM_000303.3(PMM2):c.523+139A>G	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238503	NM_000303.3(PMM2):c.524-309C>A	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259798	NM_000303.3(PMM2):c.524-275C>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326607	NM_000303.3(PMM2):c.524-141A>C	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209149	NM_000303.3(PMM2):c.524-30G>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 984505	NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)	PMM2 (K189fs)	Indel (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 812999	NM_000303.3(PMM2):c.584A>G (p.His195Arg)	PMM2 (H195R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 92803	NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)	PMM2 (E197A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 321220	NM_000303.3(PMM2):c.597C>T (p.Asp199=)	PMM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517890	NM_000303.3(PMM2):c.639+19G>C	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1208222	NM_000303.3(PMM2):c.639+30T>C	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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