FGF21[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 742208	NM_019113.4(FGF21):c.9G>A (p.Ser3=)	FGF21, LOC109279247	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729034	NM_019113.4(FGF21):c.12C>T (p.Asp4=)	FGF21, LOC109279247	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024396	NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)	FGF21, LOC109279247 (R45W)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 2594068	NM_019113.4(FGF21):c.185A>C (p.Glu62Ala)	FGF21, LOC109279247 (E62A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313110	NM_019113.4(FGF21):c.196G>A (p.Asp66Asn)	FGF21, LOC109279247 (D66N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203830	NM_019113.4(FGF21):c.214G>A (p.Ala72Thr)	FGF21, LOC109279247 (A72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399544	NM_019113.4(FGF21):c.263C>T (p.Pro88Leu)	FGF21, LOC109279247 (P88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326415	NM_019113.4(FGF21):c.277A>G (p.Ile93Val)	LOC109279247, FGF21 (I93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508725	NM_019113.4(FGF21):c.303C>G (p.Phe101Leu)	FGF21, LOC109279247 (F101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208717	NM_019113.4(FGF21):c.338C>G (p.Ser113Trp)	FGF21, LOC109279247 (S113W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355410	NM_019113.4(FGF21):c.371G>A (p.Arg124Gln)	FGF21, LOC109279247 (R124Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358320	NM_019113.4(FGF21):c.424C>G (p.Leu142Val)	FGF21, LOC109279247 (L142V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744295	NM_019113.4(FGF21):c.444G>T (p.Gly148=)	FGF21, LOC109279247	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308443	NM_019113.4(FGF21):c.464A>T (p.Asp155Val)	FGF21, LOC109279247 (D155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263305	NM_019113.4(FGF21):c.487C>T (p.Arg163Cys)	FGF21, LOC109279247 (R163C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356609	NM_019113.4(FGF21):c.508C>G (p.Leu170Val)	FGF21, LOC109279247 (L170V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608978	NM_019113.4(FGF21):c.512C>A (p.Pro171His)	FGF21, LOC109279247 (P171H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283208	NM_019113.4(FGF21):c.517G>C (p.Ala173Pro)	FGF21, LOC109279247 (A173P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294660	NM_019113.4(FGF21):c.545C>T (p.Ala182Val)	FGF21, LOC109279247 (A182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291171	NM_019113.4(FGF21):c.584G>A (p.Ser195Asn)	FGF21, LOC109279247 (S195N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592932	NM_019113.4(FGF21):c.608G>A (p.Arg203Gln)	FGF21, LOC109279247 (R203Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780578	NM_019113.4(FGF21):c.621C>T (p.Tyr207=)	FGF21, LOC109279247	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 564585	GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3	IZUMO1, FUT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 35