"Invitae"[submitter] AND "PEG3"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 716613	NM_006210.3(PEG3):c.4701C>T (p.Asp1567=)	PEG3, PEG3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 787144	NM_006210.3(PEG3):c.4506A>T (p.Glu1502Asp)	PEG3, ZIM2 (E1347D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 769057	NM_006210.3(PEG3):c.4367C>T (p.Ala1456Val)	PEG3, ZIM2 (A1427V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777915	NM_006210.3(PEG3):c.4265C>G (p.Ala1422Gly)	PEG3, ZIM2 (A1424G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 728809	NM_006210.3(PEG3):c.4206_4226dup (p.1398EVEAAEP[4])	PEG3, ZIM2	Duplication (inframe_insertion +1 more)	not provided	GLikely benign
Select item 730021	NM_006210.3(PEG3):c.4167C>T (p.Gly1389=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 749578	NM_006210.3(PEG3):c.4089A>G (p.Ala1363=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735082	NM_006210.3(PEG3):c.4083T>C (p.Asp1361=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 713664	NM_006210.3(PEG3):c.3933C>T (p.Tyr1311=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713237	NM_006210.3(PEG3):c.3870T>A (p.Ser1290=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770665	NM_006210.3(PEG3):c.3831C>T (p.Thr1277=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783853	NM_006210.3(PEG3):c.2883A>G (p.Thr961=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716508	NM_006210.3(PEG3):c.2790T>C (p.Arg930=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782661	NM_006210.3(PEG3):c.2515G>C (p.Val839Leu)	PEG3, ZIM2 (V810L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774964	NM_006210.3(PEG3):c.2390G>T (p.Ser797Ile)	PEG3, ZIM2 (S642I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787145	NM_006210.3(PEG3):c.2378T>C (p.Val793Ala)	PEG3, ZIM2 (V795A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788663	NM_006210.3(PEG3):c.2092T>G (p.Ser698Ala)	PEG3, ZIM2 (S543A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716614	NM_006210.3(PEG3):c.1871A>G (p.Glu624Gly)	PEG3, ZIM2 (E500G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 790212	NM_006210.3(PEG3):c.1787A>G (p.His596Arg)	PEG3, ZIM2 (H470R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788664	NM_006210.3(PEG3):c.1597G>T (p.Val533Leu)	PEG3, ZIM2 (V378L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769058	NM_006210.3(PEG3):c.933C>T (p.His311=)	PEG3, ZIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790921	NM_001387356.1(ZIM2):c.487C>G (p.Arg163Gly)	PEG3, ZIM2 (R161G +3 more)	Single nucleotide variant (missense variant +2 more)	PEG3-related condition +1 more	GLikely benign
Select item 732686	NM_001387356.1(ZIM2):c.348C>A (p.His116Gln)	PEG3, ZIM2 (H116Q +3 more)	Single nucleotide variant (missense variant +1 more)	PEG3-related condition +1 more	GLikely benign
Select item 784841	NM_001387356.1(ZIM2):c.253G>A (p.Glu85Lys)	PEG3, ZIM2 (E84K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 708731	NM_001387356.1(ZIM2):c.155G>A (p.Arg52Gln)	PEG3, ZIM2 (R52Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 724801	NM_001387356.1(ZIM2):c.101T>C (p.Phe34Ser)	PEG3, ZIM2 (F160S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 710654	NM_001387356.1(ZIM2):c.49G>A (p.Asp17Asn)	PEG3, ZIM2 (D17N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 712015	NM_001387356.1(ZIM2):c.17-4T>G	PEG3, ZIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719119	NM_006210.3(PEG3):c.333G>A (p.Pro111=)	PEG3, ZIM2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 782926	NM_006210.3(PEG3):c.225G>A (p.Leu75=)	PEG3, ZIM2	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 723413	NM_006210.3(PEG3):c.202C>T (p.Arg68Ter)	PEG3, ZIM2 (R68*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign

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Items: 31