FGF19[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 2605827	NM_005117.3(FGF19):c.613G>C (p.Gly205Arg)	FGF19, LOC124500681 (G205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358189	NM_005117.3(FGF19):c.613G>A (p.Gly205Arg)	LOC124500681, FGF19 (G205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341241	NM_005117.3(FGF19):c.550G>A (p.Glu184Lys)	FGF19, LOC124500681 (E184K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247910	NM_005117.3(FGF19):c.535C>T (p.Leu179Phe)	FGF19, LOC124500681 (L179F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401907	NM_005117.3(FGF19):c.419G>A (p.Arg140His)	LOC124500681, FGF19 (R140H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2592534	NM_005117.3(FGF19):c.367G>A (p.Glu123Lys)	FGF19, LOC124500681 (E123K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328845	NM_005117.3(FGF19):c.347C>G (p.Ser116Trp)	FGF19, LOC124500681 (S116W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513754	NM_005117.3(FGF19):c.253G>A (p.Val85Ile)	FGF19 (V85I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410681	NM_005117.3(FGF19):c.119A>G (p.Asp40Gly)	FGF19 (D40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340992	GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1	ANO1, CCND1 +8 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic