C0349653[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188965	NM_000303.3(PMM2):c.1A>G (p.Met1Val)	PMM2 (M1V)	Single nucleotide variant (missense variant +1 more)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
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 7720	NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	PMM2 (C9Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 371018	NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)	PMM2 (C9*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
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 553249	NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	PMM2 (G15A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	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 550661	NM_000303.3(PMM2):c.66+1del	PMM2	Deletion (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 557010	NM_000303.3(PMM2):c.67-2A>T	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 92807	NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)	PMM2 (L32R)	Indel (missense variant)	not provided +2 more	GPathogenic
Select item 550940	NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	PMM2 (L35*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
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 7725	NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	PMM2 (V44A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 553770	NM_000303.3(PMM2):c.178+2T>G	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 557569	NM_000303.3(PMM2):c.179-15del	PMM2	Deletion (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 550920	NM_000303.3(PMM2):c.179-1G>T	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 370853	NM_000303.3(PMM2):c.189del (p.Lys63fs)	PMM2 (K63fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 554804	NM_000303.3(PMM2):c.190del (p.Tyr64fs)	PMM2 (Y64fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 7710	NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)	PMM2 (D65Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 285370	NM_000303.3(PMM2):c.200T>G (p.Val67Gly)	PMM2 (V67G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 370282	NM_000303.3(PMM2):c.256-2A>G	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 550875	NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)	PMM2 (Y102C)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 30225	NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	PMM2 (Y106F)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 503676	NM_000303.3(PMM2):c.324del (p.Ile110fs)	PMM2 (I110fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 555501	NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del)	PMM2 (K115del)	Microsatellite (inframe_deletion)	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 370776	NM_000303.3(PMM2):c.345dup (p.Arg116fs)	PMM2 (R116fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 371239	NM_000303.3(PMM2):c.347+1G>A	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 551217	NM_000303.3(PMM2):c.348-2A>C	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 551216	NM_000303.3(PMM2):c.348-1G>C	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 371231	NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)	PMM2 (F119L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 555161	NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	PMM2 (I120T)	Single nucleotide variant (missense variant)	PMM2-related disorder +1 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 370287	NM_000303.3(PMM2):c.414del (p.Glu139fs)	PMM2 (E139fs)	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 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 554908	NM_000303.3(PMM2):c.432C>A (p.Phe144Leu)	PMM2 (F144L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 558721	NM_000303.3(PMM2):c.451_454del	PMM2	Microsatellite (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 551080	NM_000303.3(PMM2):c.454_455del (p.Asn152fs)	PMM2 (N152fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely 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 370217	NM_000303.3(PMM2):c.511dup (p.Thr171fs)	PMM2 (T171fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 552492	NM_000303.3(PMM2):c.523+3A>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 553612	NM_000303.3(PMM2):c.524-2A>G	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 551026	NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)	PMM2 (P184T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 553481	NM_000303.3(PMM2):c.554A>G (p.Asp185Gly)	PMM2 (D185G)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 370944	NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)	PMM2 (W187*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 7712	NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	PMM2 (D188G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551959	NM_000303.3(PMM2):c.617del (p.Phe206fs)	PMM2 (F206fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 556280	NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)	PMM2 (F206L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 189141	NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	PMM2 (F207S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 92804	NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	PMM2 (G208A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 371325	NM_000303.3(PMM2):c.639+1G>A	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 550704	NM_000303.3(PMM2):c.640-15479C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 557573	NM_000303.3(PMM2):c.640-25_640-22dup	PMM2	Duplication (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 553503	NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)	PMM2 (G214S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198713	NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	PMM2 (N216S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 550743	NM_000303.3(PMM2):c.651C>A (p.Asp217Glu)	PMM2 (D217E)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 553098	NM_000303.3(PMM2):c.653dup (p.His218fs)	PMM2 (H218fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 556471	NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	PMM2 (E235*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 21145	NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	PMM2 (T237M)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 7717	NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	PMM2 (C241S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic
Select item 557245	NM_000303.3(PMM2):c.737_739del (p.Ser246del)	PMM2 (S246del)	Deletion (inframe_deletion)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 558536	NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)	PMM2	Single nucleotide variant (stop lost)	not specified +1 more	GUncertain significance

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Items: 65