ClinVar for MedGen (Select 414534) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247791	NC_000001.10:g.(?_155112418)_(155112826_?)del	DPM3	Deletion	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 2829359	NM_153741.2(DPM3):c.42G>A (p.Leu14=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 2788399	NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)	DPM3 (W37C +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2762867	NM_153741.2(DPM3):c.205del (p.Asp69fs)	DPM3 (D99fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 2738555	NM_153741.2(DPM3):c.39C>T (p.Ile13=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 2413473	NM_153741.2(DPM3):c.59C>T (p.Ala20Val)	DPM3 (A20V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2143389	NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)	DPM3 (Q35R +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2104655	NM_153741.2(DPM3):c.215G>A (p.Arg72His)	DPM3 (R102H +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2085263	NM_153741.2(DPM3):c.81C>T (p.Gly27=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 2061375	NM_153741.2(DPM3):c.193C>T (p.His65Tyr)	DPM3 (H65Y +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2048065	NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)	DPM3 (L34S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 2043355	NM_153741.2(DPM3):c.5del (p.Thr2fs)	DPM3 (T32fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1989778	NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)	DPM3 (W9* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1983276	NM_153741.2(DPM3):c.6G>A (p.Thr2=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 1981094	NM_153741.2(DPM3):c.179del (p.Arg60fs)	DPM3 (R90fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1608541	NM_153741.2(DPM3):c.111C>T (p.Val37=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 1493482	NM_153741.2(DPM3):c.29G>A (p.Gly10Glu)	DPM3 (G10E +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1491262	NM_153741.2(DPM3):c.44G>T (p.Gly15Val)	DPM3 (G15V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1446016	NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)	DPM3 (R82* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1412853	NC_000001.10:g.(?_155112438)_(155112716_?)dup	DPM3	Duplication	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1410172	NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)	DPM3 (W37R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1407462	NM_153741.2(DPM3):c.184G>C (p.Ala62Pro)	DPM3 (A92P +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1383874	NM_153741.2(DPM3):c.248C>T (p.Ala83Val)	DPM3 (A113V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1167448	NM_153741.2(DPM3):c.112C>T (p.Leu38=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GBenign
Select item 1074098	NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)	DPM3 (Q107* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1060967	NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)	DPM3 (Y44fs +1 more)	Deletion (frameshift variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 1016244	NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr)	DPM3 (D66Y +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 1004176	NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)	DPM3 (A116D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956521	NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)	DPM3 (A100T +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 873568	NM_153741.2(DPM3):c.178C>T (p.Arg60Cys)	DPM3 (R60C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 863136	NM_153741.2(DPM3):c.127G>A (p.Ala43Thr)	DPM3 (A43T +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 853040	NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)	DPM3 (G119E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 835255	NM_153741.2(DPM3):c.28G>C (p.Gly10Arg)	DPM3 (G10R +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 832159	NC_000001.11:g.(?_155139952)_(155140340_?)dup	DPM3	Duplication	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 694292	NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)	DPM3 (P72A +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 694278	NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)	DPM3 (L85* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation +1 more	GPathogenic
Select item 661452	NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)	DPM3 (L32S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 658481	NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)	DPM3 (W7* +1 more)	Single nucleotide variant (nonsense)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 657783	NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)	DPM3 (Y59S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 585021	NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)	DPM3 (L44P +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GPathogenic
Select item 582811	NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)	DPM3 (E73A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 538433	NM_153741.2(DPM3):c.48C>T (p.Ser16=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation	GLikely benign
Select item 538432	NM_153741.2(DPM3):c.55G>T (p.Val19Leu)	DPM3 (V19L +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 538431	NM_153741.2(DPM3):c.185C>T (p.Ala62Val)	DPM3 (A62V +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GUncertain significance
Select item 471063	NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)	DPM3 (R60L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 387489	NM_153741.2(DPM3):c.60C>T (p.Ala20=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 292789	NM_153741.2(DPM3):c.249C>A (p.Ala83=)	DPM3	Single nucleotide variant (synonymous variant)	DPM3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 4702	NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)	DPM3 (L85S +1 more)	Single nucleotide variant (missense variant)	DPM3-congenital disorder of glycosylation	GPathogenic

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Items: 48