FGF4[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 1172547	NM_002007.4(FGF4):c.611C>A (p.Pro204His)	FGF4 (P204H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303447	NM_002007.4(FGF4):c.494A>T (p.Asn165Ile)	FGF4 (N165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217879	NM_002007.4(FGF4):c.480T>G (p.Ile160Met)	FGF4 (I160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281292	NM_002007.4(FGF4):c.467C>T (p.Thr156Met)	FGF4 (T156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219875	NM_002007.4(FGF4):c.457G>A (p.Asp153Asn)	FGF4 (D153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776637	NM_002007.4(FGF4):c.444+8C>T	FGF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2515609	NM_002007.4(FGF4):c.334C>G (p.Arg112Gly)	FGF4 (R112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094741	NM_002007.4(FGF4):c.293C>T (p.Ala98Val)	FGF4 (A98V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094740	NM_002007.4(FGF4):c.258C>G (p.Leu86=)	FGF4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2484962	NM_002007.4(FGF4):c.221G>A (p.Gly74Asp)	FGF4 (G74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094739	NM_002007.4(FGF4):c.137G>T (p.Arg46Leu)	FGF4 (R46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094738	NM_002007.4(FGF4):c.122C>T (p.Ala41Val)	FGF4 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094742	NM_002007.4(FGF4):c.83G>A (p.Gly28Asp)	FGF4 (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278643	NM_002007.4(FGF4):c.64C>T (p.Pro22Ser)	FGF4 (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321382	NM_002007.4(FGF4):c.13G>C (p.Gly5Arg)	FGF4 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +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 1809037	GRCh37/hg19 11q13.3(chr11:69559588-70347818)x3	ANO1, CTTN +5 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 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	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687000	GRCh37/hg19 11q13.3(chr11:69540125-69711472)x3	FGF3, FGF4	Copy number gain	not provided	GUncertain significance
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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394048	GRCh37/hg19 11q13.3(chr11:69587777-69588196)x3	FGF4	Copy number gain	See cases	GBenign

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Items: 27