"GeneDx"[submitter] AND "FGF20"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 4885	NM_019851.3(FGF20):c.*182C>T	FGF20	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271718	NM_019851.3(FGF20):c.*165T>C	FGF20	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1289305	NM_019851.3(FGF20):c.*83G>C	FGF20	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236757	NM_019851.3(FGF20):c.391-52A>C	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284084	NM_019851.3(FGF20):c.391-111C>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231805	NM_019851.3(FGF20):c.391-215G>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179541	NM_019851.3(FGF20):c.391-228G>C	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237440	NM_019851.3(FGF20):c.391-251del	FGF20	Deletion (intron variant)	not provided	GBenign
Select item 1183885	NM_019851.3(FGF20):c.391-275G>C	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236477	NM_019851.3(FGF20):c.391-297G>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269247	NM_019851.3(FGF20):c.391-309G>A	FGF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246783	NM_019851.3(FGF20):c.144G>C (p.Ala48=)	FGF20, LOC129999926	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1231868	NM_019851.3(FGF20):c.102G>A (p.Pro34=)	LOC129999926, FGF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic