FRS2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 1701726	Single allele	FRS2, LOC130008282 +14 more	Duplication	not provided	GUncertain significance
Select item 3279955	NM_001278356.2(FRS2):c.20G>A (p.Cys7Tyr)	FRS2 (C7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097042	NM_001278356.2(FRS2):c.148C>T (p.Arg50Cys)	FRS2 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384816	NM_001278356.2(FRS2):c.149G>A (p.Arg50His)	FRS2 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593803	NM_001278356.2(FRS2):c.155G>A (p.Arg52His)	FRS2 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341559	NM_001278356.2(FRS2):c.286G>C (p.Glu96Gln)	FRS2 (E96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525873	NM_001278356.2(FRS2):c.401G>A (p.Arg134Gln)	FRS2 (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097043	NM_001278356.2(FRS2):c.625C>T (p.Arg209Cys)	FRS2 (R209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285299	NM_001278356.2(FRS2):c.656G>A (p.Arg219Lys)	FRS2 (R219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222772	NM_001278356.2(FRS2):c.667G>A (p.Ala223Thr)	FRS2 (A223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471437	NM_001278356.2(FRS2):c.676A>T (p.Ser226Cys)	FRS2 (S226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225442	NM_001278356.2(FRS2):c.810A>T (p.Gln270His)	FRS2 (Q270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479813	NM_001278356.2(FRS2):c.884G>A (p.Arg295Gln)	FRS2 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478992	NM_001278356.2(FRS2):c.913G>A (p.Val305Met)	FRS2 (V305M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215615	NM_001278356.2(FRS2):c.971G>A (p.Arg324His)	FRS2 (R324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097044	NM_001278356.2(FRS2):c.992C>T (p.Ser331Leu)	FRS2 (S331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097038	NM_001278356.2(FRS2):c.1006A>G (p.Ile336Val)	FRS2 (I336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097039	NM_001278356.2(FRS2):c.1030A>G (p.Thr344Ala)	FRS2 (T344A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379370	NM_001278356.2(FRS2):c.1084C>T (p.Arg362Cys)	FRS2 (R362C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470322	NM_001278356.2(FRS2):c.1127C>T (p.Thr376Ile)	FRS2 (T376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536627	NM_001278356.2(FRS2):c.1162C>G (p.Pro388Ala)	FRS2 (P388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329671	NM_001278356.2(FRS2):c.1163C>A (p.Pro388Gln)	FRS2 (P388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604661	NM_001278356.2(FRS2):c.1234C>T (p.Arg412Cys)	FRS2 (R412C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279954	NM_001278356.2(FRS2):c.1266T>G (p.Phe422Leu)	FRS2 (F422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595499	NM_001278356.2(FRS2):c.1276C>T (p.Arg426Cys)	FRS2 (R426C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097040	NM_001278356.2(FRS2):c.1277G>A (p.Arg426His)	FRS2 (R426H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218073	NM_001278356.2(FRS2):c.1309A>G (p.Ile437Val)	FRS2 (I437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254971	NM_001278356.2(FRS2):c.1366C>T (p.Pro456Ser)	FRS2 (P456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097041	NM_001278356.2(FRS2):c.1417G>A (p.Val473Met)	FRS2 (V473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270573	NM_001278356.2(FRS2):c.1444A>G (p.Met482Val)	FRS2 (M482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 41