ClinVar for MedGen (Select 98146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064945	NM_212482.4(FN1):c.3010_3011insTC (p.Gln1004fs)	FN1 (Q1004fs)	Insertion (frameshift variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 3064834	NM_212482.4(FN1):c.3009_3010del (p.Gln1004fs)	FN1 (Q1004fs)	Deletion (frameshift variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 3064820	NM_212482.4(FN1):c.3009_3010dup (p.Gln1004fs)	FN1 (Q1004fs)	Duplication (frameshift variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 2412782	NM_212482.4(FN1):c.685+3A>G	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 1805038	NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)	FN1 (D869N)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 1695003	NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter)	FN1 (E1977* +6 more)	Single nucleotide variant (nonsense +1 more)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1683462	NM_212482.4(FN1):c.261C>G (p.Cys87Trp)	FN1 (C87W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1675238	NM_001844.5(COL2A1):c.3111+5G>A	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +16 more	GUncertain significance
Select item 1671351	NM_212482.4(FN1):c.416-17C>T	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1647003	NM_212482.4(FN1):c.1942-38GT[14]	FN1	Microsatellite (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign/Likely benign
Select item 1646003	NM_212482.4(FN1):c.5164+14G>T	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1641876	NM_212482.4(FN1):c.2299+16C>T	FN1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1638177	NM_212482.4(FN1):c.3909T>G (p.Val1303=)	FN1	Single nucleotide variant (synonymous variant +1 more)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1634653	NM_212482.4(FN1):c.1676-9G>A	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1632862	NM_212482.4(FN1):c.148+16G>A	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1622389	NM_212482.4(FN1):c.278-18C>T	FN1, LOC126806499	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1621270	NM_212482.4(FN1):c.1820-16A>G	FN1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1619606	NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala)	FN1 (T1063A)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1619302	NM_001844.5(COL2A1):c.2734-18C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +16 more	GLikely benign
Select item 1619290	NM_212482.4(FN1):c.1217-11G>A	LOC126806498, FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1614324	NM_212482.4(FN1):c.5511T>C (p.Asn1837=)	FN1	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1600862	NM_212482.4(FN1):c.1002G>A (p.Thr334=)	FN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1600682	NM_212482.4(FN1):c.6336T>C (p.Pro2112=)	FN1	Single nucleotide variant (synonymous variant +1 more)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1598621	NM_212482.4(FN1):c.5623-13C>G	FN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1594663	NM_212482.4(FN1):c.5977+7A>G	FN1, LOC126806496	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1590368	NM_212482.4(FN1):c.6158-7C>T	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1588068	NM_212482.4(FN1):c.247C>A (p.Arg83=)	FN1	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1587702	NM_212482.4(FN1):c.7363-20del	ATIC, FN1	Deletion (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1582669	NM_212482.4(FN1):c.5943T>C (p.Ala1981=)	FN1, LOC126806496	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1582337	NM_212482.4(FN1):c.2413A>G (p.Thr805Ala)	FN1 (T805A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1581108	NM_212482.4(FN1):c.6507G>A (p.Pro2169=)	FN1	Single nucleotide variant (synonymous variant +1 more)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1577428	NM_212482.4(FN1):c.6459G>A (p.Pro2153=)	FN1	Single nucleotide variant (synonymous variant +1 more)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1571816	NM_212482.4(FN1):c.548-10T>C	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1562789	NM_212482.4(FN1):c.2967G>C (p.Leu989=)	FN1	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1562366	NM_212482.4(FN1):c.4143C>T (p.Pro1381=)	FN1, LOC126806497	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1560524	NM_212482.4(FN1):c.2713+20A>G	FN1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1555984	NM_212482.4(FN1):c.7116C>T (p.Asn2372=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1552592	NM_212482.4(FN1):c.6066C>T (p.Thr2022=)	FN1	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1534344	NM_212482.4(FN1):c.5051-9C>A	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1524681	NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	COL2A1 (R863Q +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 1511386	NM_212482.4(FN1):c.592G>A (p.Gly198Arg)	FN1 (G198R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1509960	NM_212482.4(FN1):c.862G>A (p.Asp288Asn)	FN1 (D288N)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GConflicting classifications of pathogenicity
Select item 1509406	NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys)	FN1 (R1837C +3 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GConflicting classifications of pathogenicity
Select item 1504652	NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser)	FN1, LOC126806496 (T1877S +3 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GUncertain significance
Select item 1500911	NM_212482.4(FN1):c.6784A>G (p.Ile2262Val)	FN1 (I2050V +16 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GUncertain significance
Select item 1499265	NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr)	FN1 (K1050T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1498737	NM_212482.4(FN1):c.2717C>T (p.Thr906Ile)	FN1 (T906I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1493939	NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu)	FN1 (K1796E +3 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GUncertain significance
Select item 1487177	NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys)	ATIC, FN1 (R2056C +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1484159	NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del)	ATIC, FN1 (D2088del +16 more)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 1474447	NM_212482.4(FN1):c.1544G>A (p.Arg515Gln)	FN1 (R515Q)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1470698	NM_212482.4(FN1):c.2150C>G (p.Pro717Arg)	FN1 (P717R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1470533	NM_212482.4(FN1):c.4879A>G (p.Ile1627Val)	FN1 (I1536V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1455692	NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	COL2A1 (P884fs +1 more)	Deletion (frameshift variant)	not provided +16 more	GPathogenic
Select item 1450581	NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg)	FN1 (P1438R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1439843	NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys)	FN1 (Y1323C)	Single nucleotide variant (missense variant +1 more)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GUncertain significance
Select item 1436151	NM_212482.4(FN1):c.3199G>A (p.Val1067Met)	FN1 (V1067M)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GConflicting classifications of pathogenicity
Select item 1433077	NM_212482.4(FN1):c.790G>A (p.Gly264Ser)	FN1 (G264S)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1432363	NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu)	FN1, LOC126806497 (S1315L +1 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1414102	NM_212482.4(FN1):c.2879C>G (p.Thr960Ser)	FN1 (T960S)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +3 more	GConflicting classifications of pathogenicity
Select item 1408898	NM_212482.4(FN1):c.5164+3A>G	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1408608	NM_212482.4(FN1):c.1871A>G (p.Asn624Ser)	FN1 (N624S)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +3 more	GUncertain significance
Select item 1406898	NM_212482.4(FN1):c.4558G>A (p.Val1520Ile)	FN1 (V1429I +1 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1404305	NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly)	FN1 (S1647G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1392753	NM_212482.4(FN1):c.6002G>A (p.Arg2001His)	FN1, LOC126806496 (R1820H +3 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1388073	NM_212482.4(FN1):c.1481T>C (p.Met494Thr)	FN1 (M494T)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1386179	NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	COL2A1 (R586H +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 1374587	NM_212482.4(FN1):c.6157+4T>C	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1372649	NM_212482.4(FN1):c.907C>T (p.Pro303Ser)	FN1 (P303S)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1369716	NM_212482.4(FN1):c.3415G>A (p.Val1139Ile)	FN1 (V1139I)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1368764	NM_212482.4(FN1):c.665G>A (p.Arg222His)	FN1 (R222H)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1368582	NM_212482.4(FN1):c.7402G>A (p.Val2468Ile)	ATIC, FN1 (V2321I +16 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1367879	NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs)	FN1 (T1699fs +1 more)	Microsatellite (frameshift variant +1 more)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1367318	NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu)	FN1 (P1289L)	Single nucleotide variant (missense variant +1 more)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1365477	NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr)	FN1 (A1529T +1 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GUncertain significance
Select item 1364561	NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu)	FN1 (A1459E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1359662	NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser)	FN1 (P1601S +1 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GConflicting classifications of pathogenicity
Select item 1347692	NM_212482.4(FN1):c.749A>C (p.Asp250Ala)	FN1 (D250A)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GUncertain significance
Select item 1334093	NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu)	FN1 (P1655L +1 more)	Single nucleotide variant (missense variant +1 more)	Spondylometaphyseal dysplasia - Sutcliffe type +1 more	GUncertain significance
Select item 1334092	NM_212482.4(FN1):c.1888T>G (p.Trp630Gly)	FN1 (W630G)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 1302813	NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe)	FN1 (I1740F +3 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +3 more	GBenign/Likely benign
Select item 1299479	NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg)	FN1 (G1483R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1285279	NM_212482.4(FN1):c.1675+21A>G	FN1, LOC122861289	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1285278	NM_212482.4(FN1):c.4343-16C>T	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign
Select item 1284045	NM_212482.4(FN1):c.4253-15C>G	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign
Select item 1268952	NM_212482.4(FN1):c.1942-38GT[13]	FN1	Microsatellite (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign/Likely benign
Select item 1252598	NM_212482.4(FN1):c.1942-38GT[12]	FN1	Microsatellite (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign
Select item 1250663	NM_212482.4(FN1):c.5622+21A>G	FN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1249042	NM_212482.4(FN1):c.3253+17G>A	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign
Select item 1200982	NM_212482.4(FN1):c.547+19T>C	FN1	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1175117	NM_212482.4(FN1):c.149-4G>T	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign
Select item 1174898	NM_212482.4(FN1):c.2518+12G>C	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign/Likely benign
Select item 1174713	NM_212482.4(FN1):c.149-3C>T	FN1	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign
Select item 1169964	NM_212482.4(FN1):c.2442T>A (p.Pro814=)	FN1	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign
Select item 1169963	NM_212482.4(FN1):c.2449A>C (p.Thr817Pro)	FN1 (T817P)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign
Select item 1169962	NM_212482.4(FN1):c.4725G>A (p.Glu1575=)	FN1	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign
Select item 1169961	NM_212482.4(FN1):c.6781G>A (p.Val2261Ile)	FN1 (V1960I +16 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign
Select item 1169959	NM_212482.4(FN1):c.7161T>C (p.Tyr2387=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign
Select item 1168742	NM_212482.4(FN1):c.6634A>G (p.Ile2212Val)	FN1 (I1911V +16 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1166950	NM_212482.4(FN1):c.5964C>T (p.Ile1988=)	FN1, LOC126806496	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign

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