ClinVar for Gene (Select 2091) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277909	NM_001436.4(FBL):c.208C>G (p.Arg70Gly)	FBL (R70G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277906	NM_001436.4(FBL):c.278A>G (p.His93Arg)	FBL (H93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093293	NM_001436.4(FBL):c.86G>C (p.Gly29Ala)	FBL (G29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093292	NM_001436.4(FBL):c.47G>T (p.Gly16Val)	FBL (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093291	NM_001436.4(FBL):c.473A>G (p.Lys158Arg)	FBL (K158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093290	NM_001436.4(FBL):c.179G>A (p.Gly60Asp)	FBL (G60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093289	NM_001436.4(FBL):c.163G>A (p.Gly55Arg)	FBL (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093288	NM_001436.4(FBL):c.107G>C (p.Arg36Pro)	FBL (R36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2600256	NM_001436.4(FBL):c.76G>C (p.Gly26Arg)	FBL (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559964	NM_001436.4(FBL):c.160G>A (p.Gly54Ser)	FBL (G54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530575	NM_001436.4(FBL):c.61C>T (p.Arg21Cys)	FBL (R21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525566	NM_001436.4(FBL):c.25G>A (p.Gly9Arg)	FBL (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522775	NM_001436.4(FBL):c.671G>A (p.Arg224His)	FBL (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511182	NM_001436.4(FBL):c.548C>T (p.Pro183Leu)	FBL (P183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494159	NM_001436.4(FBL):c.593G>A (p.Arg198His)	FBL (R198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2314328	NM_001436.4(FBL):c.755C>T (p.Thr252Ile)	FBL (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277206	NM_001436.4(FBL):c.481G>A (p.Ala161Thr)	FBL (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 712136	NM_001436.4(FBL):c.39C>T (p.Gly13=)	FBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28