ClinVar for MedGen (Select 1637058) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068001	NM_030957.4(ADAMTS10):c.2888G>A (p.Gly963Asp)	ADAMTS10 (G450D +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 3065634	NM_030957.4(ADAMTS10):c.2707G>C (p.Gly903Arg)	ADAMTS10 (G390R +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely benign
Select item 2664228	NM_030957.4(ADAMTS10):c.1520G>A (p.Arg507Gln)	ADAMTS10 (R507Q)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 2570589	NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly)	ADAMTS10 (V1028G +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570588	NM_030957.4(ADAMTS10):c.726_727del (p.Glu242fs)	ADAMTS10 (E242fs)	Microsatellite (frameshift variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570587	NM_030957.4(ADAMTS10):c.1893C>A (p.Tyr631Ter)	ADAMTS10 (Y631* +1 more)	Single nucleotide variant (missense variant +1 more)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570586	NM_030957.4(ADAMTS10):c.2986C>T (p.Arg996Cys)	ADAMTS10 (R483C +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570585	NM_030957.4(ADAMTS10):c.1462C>A (p.Arg488Ser)	ADAMTS10 (R488S)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570584	NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln)	ADAMTS10 (R233Q)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570582	NM_030957.4(ADAMTS10):c.2720G>A (p.Arg907His)	ADAMTS10 (R394H +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570575	NM_030957.4(ADAMTS10):c.1219A>G (p.Asn407Asp)	ADAMTS10 (N407D)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2570574	NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp)	ADAMTS10 (E393D)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GLikely pathogenic
Select item 2500013	NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg)	ADAMTS10 (S274R +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 2500012	NM_030957.4(ADAMTS10):c.1084+6C>T	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 2500008	NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys)	ADAMTS10 (G44A +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 2438859	NM_030957.4(ADAMTS10):c.133A>G (p.Thr45Ala)	ADAMTS10 (T45A)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 2169297	NM_030957.4(ADAMTS10):c.629G>A (p.Arg210Gln)	ADAMTS10 (R210Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1934151	NM_030957.4(ADAMTS10):c.1183G>A (p.Gly395Arg)	ADAMTS10 (G395R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1647629	NM_030957.4(ADAMTS10):c.68C>T (p.Thr23Met)	ADAMTS10 (T23M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1188950	NM_030957.4(ADAMTS10):c.811-149G>A	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome 1	GBenign
Select item 1188949	NM_030957.4(ADAMTS10):c.1588-179G>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032917	NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His)	ADAMTS10 (R1001H +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 1029985	NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr)	ADAMTS10 (A365T +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 787569	NM_030957.4(ADAMTS10):c.2403+4A>G	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +3 more	GBenign/Likely benign
Select item 625881	NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg)	ADAMTS10 (P214R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GUncertain significance
Select item 625880	NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 625879	NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val)	ADAMTS10 (A117V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 518307	NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)	ADAMTS10 (H1101Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 427834	NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]			Weill-Marchesani syndrome 1	GPathogenic
Select item 330610	NM_030957.4(ADAMTS10):c.401= (p.Ser134=)	ADAMTS10	Single nucleotide variant (no sequence alteration)	Weill-Marchesani syndrome 1 +2 more	GBenign
Select item 330601	NM_030957.4(ADAMTS10):c.1588-7C>G	ADAMTS10 (P18R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 37093	NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met)	LTBP2 (V1177M)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 3 +1 more	GPathogenic
Select item 1950	NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys)	ADAMTS10 (G700C +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GPathogenic
Select item 1949	NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp)	ADAMTS10 (G518D)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 1	GPathogenic
Select item 1948	NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter)	ADAMTS10 (Q318*)	Single nucleotide variant (nonsense)	Weill-Marchesani syndrome 1	GPathogenic
Select item 1947	NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr)	ADAMTS10 (A25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946	NM_030957.4(ADAMTS10):c.810+1G>A	ADAMTS10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1945	NM_030957.4(ADAMTS10):c.1190+1G>A	ADAMTS10	Single nucleotide variant (splice donor variant)	Weill-Marchesani syndrome 1	GPathogenic
Select item 1944	NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter)	ADAMTS10 (R237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 39