ClinVar for MedGen (Select 82705) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894780	NM_030957.4(ADAMTS10):c.2865+11C>A	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +1 more	GBenign
Select item 894316	NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser)	ADAMTS10 (G163S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894315	NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln)	ADAMTS10 (R169Q)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GUncertain significance
Select item 894314	NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys)	ADAMTS10 (E173K)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 894313	NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly)	ADAMTS10 (E173G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894290	NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg)	ADAMTS10 (R43G +1 more)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 894289	NM_030957.4(ADAMTS10):c.1797+11C>A	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893949	NM_030957.4(ADAMTS10):c.-233G>T	ADAMTS10	Single nucleotide variant (5 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893931	NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu)	ADAMTS10 (R186L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 893930	NM_030957.4(ADAMTS10):c.592+8G>A	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +1 more	GConflicting classifications of pathogenicity
Select item 893929	NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp)	ADAMTS10 (R210W)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 893928	NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu)	ADAMTS10 (P215L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893927	NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His)	ADAMTS10 (R239H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893926	NM_030957.4(ADAMTS10):c.1085-10G>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893897	NM_030957.4(ADAMTS10):c.1901-13C>A	ADAMTS10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893896	NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893895	NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893868	NM_030957.4(ADAMTS10):c.*20G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 893867	NM_030957.4(ADAMTS10):c.*47A>G	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893866	NM_030957.4(ADAMTS10):c.*81G>C	ADAMTS10, LOC130063441	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893865	NM_030957.4(ADAMTS10):c.*146G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893682	NM_030957.4(ADAMTS10):c.-198A>G	ADAMTS10	Single nucleotide variant (5 prime UTR variant)	Weill-Marchesani syndrome	GLikely benign
Select item 893681	NM_030957.4(ADAMTS10):c.-153G>A	ADAMTS10	Single nucleotide variant (5 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893680	NM_030957.4(ADAMTS10):c.-99-7C>G	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893679	NM_030957.4(ADAMTS10):c.-99-3C>T	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893678	NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893677	NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg)	ADAMTS10 (H49R)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 893642	NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +1 more	GConflicting classifications of pathogenicity
Select item 893641	NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +1 more	GConflicting classifications of pathogenicity
Select item 893640	NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp)	ADAMTS10 (N429D)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893610	NM_030957.4(ADAMTS10):c.2034+11C>T	ADAMTS10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893580	NM_030957.4(ADAMTS10):c.*157G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893579	NM_030957.4(ADAMTS10):c.*171G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 893578	NM_030957.4(ADAMTS10):c.*209C>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893577	NM_030957.4(ADAMTS10):c.*259G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 893576	NM_030957.4(ADAMTS10):c.*311A>G	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893575	NM_030957.4(ADAMTS10):c.*330A>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 893574	NM_030957.4(ADAMTS10):c.*356G>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892867	NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892866	NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=)	ADAMTS10	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892865	NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro)	ADAMTS10 (L112P)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892837	NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892836	NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892835	NM_030957.4(ADAMTS10):c.1588-11C>T	ADAMTS10 (P17S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 892805	NM_030957.4(ADAMTS10):c.2404-9T>C	ADAMTS10	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892804	NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=)	ADAMTS10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892771	NM_030957.4(ADAMTS10):c.*447G>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892770	NM_030957.4(ADAMTS10):c.*563C>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892769	NM_030957.4(ADAMTS10):c.*578C>A	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 892768	NM_030957.4(ADAMTS10):c.*630C>T	ADAMTS10	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome	GUncertain significance
Select item 888468	NM_000138.5(FBN1):c.*43A>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +6 more	GConflicting classifications of pathogenicity
Select item 888414	NM_000138.5(FBN1):c.*253A>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 888194	NM_000428.3(LTBP2):c.246G>A (p.Leu82=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 888152	NM_000138.5(FBN1):c.*1122C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 888132	NM_000428.3(LTBP2):c.970A>C (p.Arg324=)	LTBP2	Single nucleotide variant (synonymous variant)	Weill-Marchesani syndrome +2 more	GConflicting classifications of pathogenicity
Select item 888131	NM_000428.3(LTBP2):c.989C>T (p.Ala330Val)	LTBP2 (A330V)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GUncertain significance
Select item 888083	NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp)	LTBP2 (R538W)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 888082	NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln)	LTBP2 (R538Q)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 888018	NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)	FBN1 (D1810Y)	Single nucleotide variant (missense variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 888017	NM_000138.5(FBN1):c.*1375A>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 888000	NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr)	LTBP2 (A733T)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887999	NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile)	LTBP2 (V776I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887998	NM_000428.3(LTBP2):c.2388+8C>G	LTBP2	Single nucleotide variant (intron variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887878	NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)	LTBP2 (G1106R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary infantile, B +4 more	GUncertain significance
Select item 887816	NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp)	LTBP2 (G1272D)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 887742	NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg)	LTBP2 (L1512R)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887688	NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile)	LTBP2 (V1686I)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 887687	NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met)	LTBP2 (V1719M)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 887686	NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 887646	NM_000138.5(FBN1):c.*2592T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 887567	NM_000428.3(LTBP2):c.*1005C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887566	NM_000428.3(LTBP2):c.*1029G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887502	NM_000428.3(LTBP2):c.*2044G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GBenign/Likely benign
Select item 887501	NM_000428.3(LTBP2):c.*2112G>A	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887500	NM_000428.3(LTBP2):c.*2153T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +2 more	GBenign/Likely benign
Select item 887441	NM_000428.3(LTBP2):c.*312T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887440	NM_000428.3(LTBP2):c.*316C>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887439	NM_000428.3(LTBP2):c.*384G>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 887370	NM_000428.3(LTBP2):c.*1393T>C	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887316	NM_000428.3(LTBP2):c.*2236C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 887315	NM_000428.3(LTBP2):c.*2363A>G	LTBP2	Single nucleotide variant (3 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GConflicting classifications of pathogenicity
Select item 887213	NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)	FBN1 (R1075H)	Single nucleotide variant (missense variant)	Stiff skin syndrome +6 more	GUncertain significance
Select item 887011	NM_000138.5(FBN1):c.3712+9G>T	FBN1	Single nucleotide variant (intron variant)	Stiff skin syndrome +6 more	GConflicting classifications of pathogenicity
Select item 886994	NM_000428.3(LTBP2):c.-170G>T	LTBP2	Single nucleotide variant (5 prime UTR variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 886934	NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu)	LTBP2 (G161E)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 886933	NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser)	LTBP2 (P189S)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 886932	NM_000428.3(LTBP2):c.568G>A (p.Val190Ile)	LTBP2 (V190I)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 886871	NM_000138.5(FBN1):c.*1201T>G	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 886858	NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser)	LTBP2 (C400S)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 886749	NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)	FBN1 (D1810V)	Single nucleotide variant (missense variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 886736	NM_000428.3(LTBP2):c.2388+8C>T	LTBP2	Single nucleotide variant (intron variant)	Glaucoma 3, primary infantile, B +5 more	GConflicting classifications of pathogenicity
Select item 886735	NM_000428.3(LTBP2):c.2449A>G (p.Met817Val)	LTBP2 (M817V)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 886701	NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)	FBN1 (E2097K)	Single nucleotide variant (missense variant)	Stiff skin syndrome +6 more	GUncertain significance
Select item 886630	NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser)	LTBP2 (G1171S)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +1 more	GUncertain significance
Select item 886580	NM_000138.5(FBN1):c.443-15C>A	FBN1	Single nucleotide variant (intron variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 886579	NM_000138.5(FBN1):c.*2037T>C	FBN1	Single nucleotide variant (3 prime UTR variant)	Stiff skin syndrome +5 more	GUncertain significance
Select item 886563	NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=)	LTBP2	Single nucleotide variant (synonymous variant)	Glaucoma 3, primary congenital, D +2 more	GConflicting classifications of pathogenicity
Select item 886562	NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr)	LTBP2 (A1359T)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D +2 more	GUncertain significance
Select item 886496	NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886456	NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)	FBN1 (R2355K)	Single nucleotide variant (missense variant)	Stiff skin syndrome +10 more	GConflicting classifications of pathogenicity

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