ClinVar for Gene (Select 126806498) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095938	NM_212482.4(FN1):c.1127C>T (p.Thr376Ile)	FN1, LOC126806498 (T376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3020974	NM_212482.4(FN1):c.1325A>G (p.Asn442Ser)	FN1, LOC126806498 (N442S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009973	NM_212482.4(FN1):c.1245C>T (p.Ser415=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009567	NM_212482.4(FN1):c.1206A>C (p.Thr402=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981497	NM_212482.4(FN1):c.1393+7T>A	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966220	NM_212482.4(FN1):c.1217-8C>A	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962335	NM_212482.4(FN1):c.1217-14A>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876529	NM_212482.4(FN1):c.1144G>A (p.Gly382Arg)	FN1, LOC126806498 (G382R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867171	NM_212482.4(FN1):c.1232G>A (p.Arg411Gln)	FN1, LOC126806498 (R411Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812986	NM_212482.4(FN1):c.1206A>G (p.Thr402=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695573	NM_212482.4(FN1):c.1328T>G (p.Met443Arg)	FN1, LOC126806498 (M443R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635605	NM_212482.4(FN1):c.1261C>T (p.His421Tyr)	FN1, LOC126806498 (H421Y)	Single nucleotide variant (missense variant)	FN1-related condition	GUncertain significance
Select item 2239889	NM_212482.4(FN1):c.1123A>G (p.Thr375Ala)	FN1, LOC126806498 (T375A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2157192	NM_212482.4(FN1):c.1170G>A (p.Ser390=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133082	NM_212482.4(FN1):c.1216+18del	FN1, LOC126806498	Deletion (intron variant)	not provided	GBenign
Select item 2124829	NM_212482.4(FN1):c.1233A>T (p.Arg411=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093636	NM_212482.4(FN1):c.1037-8G>C	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072958	NM_212482.4(FN1):c.1363G>A (p.Asp455Asn)	FN1, LOC126806498 (D455N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029773	NM_212482.4(FN1):c.1140G>A (p.Gln380=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998097	NM_212482.4(FN1):c.1037-15T>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1984784	NM_212482.4(FN1):c.1389G>A (p.Met463Ile)	FN1, LOC126806498 (M463I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964613	NM_212482.4(FN1):c.1232G>T (p.Arg411Leu)	FN1, LOC126806498 (R411L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943255	NM_212482.4(FN1):c.1338T>C (p.Cys446=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715734	NM_212482.4(FN1):c.1385C>G (p.Pro462Arg)	FN1, LOC126806498 (P462R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642677	NM_212482.4(FN1):c.1037-8G>A	LOC126806498, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640127	NM_212482.4(FN1):c.1299T>C (p.Asp433=)	LOC126806498, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639101	NM_212482.4(FN1):c.1216+13A>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	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 1615360	NM_212482.4(FN1):c.1216+19A>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590106	NM_212482.4(FN1):c.1371G>A (p.Lys457=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563679	NM_212482.4(FN1):c.1185C>T (p.Asp395=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530034	NM_212482.4(FN1):c.1216+16G>A	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527897	NM_212482.4(FN1):c.1343C>G (p.Thr448Ser)	FN1, LOC126806498 (T448S)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 1487325	NM_212482.4(FN1):c.1263C>G (p.His421Gln)	FN1, LOC126806498 (H421Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465749	NM_212482.4(FN1):c.1350G>C (p.Gln450His)	FN1, LOC126806498 (Q450H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289508	NM_212482.4(FN1):c.1217-231dup	FN1, LOC126806498	Duplication (intron variant)	not provided	GBenign
Select item 1282360	NM_212482.4(FN1):c.1216+74C>T	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282359	NM_212482.4(FN1):c.1217-36A>T	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269359	NM_212482.4(FN1):c.1216+28A>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257773	NM_212482.4(FN1):c.1216+92C>T	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249132	NM_212482.4(FN1):c.1216+30T>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203162	NM_212482.4(FN1):c.1037-21C>G	LOC126806498, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202955	NM_212482.4(FN1):c.1217-231G>T	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193609	NM_212482.4(FN1):c.1216+108C>T	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1043875	NM_212482.4(FN1):c.1247A>G (p.Asn416Ser)	FN1, LOC126806498 (N416S)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +3 more	GConflicting classifications of pathogenicity
Select item 1020547	NM_212482.4(FN1):c.1054G>A (p.Gly352Ser)	FN1, LOC126806498 (G352S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1017559	NM_212482.4(FN1):c.1169C>T (p.Ser390Leu)	FN1, LOC126806498 (S390L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 974724	NC_000002.12:g.215349854_215435010del	ATIC, FN1 +6 more	Deletion	Megacolon	GUncertain significance
Select item 791471	NM_212482.4(FN1):c.1070G>A (p.Gly357Glu)	FN1, LOC126806498 (G357E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 789976	NM_212482.4(FN1):c.1101T>C (p.Asn367=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign/Likely benign
Select item 769584	NM_212482.4(FN1):c.1110G>A (p.Thr370=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 761953	NM_212482.4(FN1):c.1053C>T (p.Tyr351=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 753354	NM_212482.4(FN1):c.1062C>T (p.Asn354=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745070	NM_212482.4(FN1):c.1143C>T (p.Asp381=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 735608	NM_212482.4(FN1):c.1361C>A (p.Ala454Asp)	FN1, LOC126806498 (A454D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 716445	NM_212482.4(FN1):c.1200C>T (p.Phe400=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57418	GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3	ABCA12, ATIC +36 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 64