"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126860403"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 910491	NM_017780.4(CHD7):c.1666-15A>G	CHD7, LOC126860403	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GBenign/Likely benign
Select item 1009458	NM_017780.4(CHD7):c.1677G>A (p.Ser559=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1684268	NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)	CHD7, LOC126860403 (P561T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GUncertain significance
Select item 1110998	NM_017780.4(CHD7):c.1704G>A (p.Pro568=)	LOC126860403, CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1310774	NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)	CHD7, LOC126860403 (D569E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 529139	NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)	CHD7, LOC126860403 (P576L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 570279	NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)	CHD7, LOC126860403 (I590V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 591994	NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)	CHD7, LOC126860403	Microsatellite (inframe_insertion +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1337650	NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)	CHD7, LOC126860403 (P656L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1434199	NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)	CHD7, LOC126860403 (K666R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1502248	NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)	CHD7, LOC126860403 (K691E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 1402962	NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)	CHD7, LOC126860403 (K691Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance