ClinVar for Gene (Select 126863015) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045464	NM_178466.5(BPIFA3):c.326C>A (p.Ser109Ter)	BPIFA3, LOC126863015 (S109*)	Single nucleotide variant (nonsense +1 more)	BPIFA3-related condition	GBenign
Select item 2373475	NM_178466.5(BPIFA3):c.245G>C (p.Ser82Thr)	BPIFA3, LOC126863015 (S82T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308605	NM_178466.5(BPIFA3):c.157G>A (p.Ala53Thr)	BPIFA3, LOC126863015 (A53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283723	NM_178466.5(BPIFA3):c.347C>T (p.Ser116Leu)	BPIFA3, LOC126863015 (S116L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 157462	NM_178466.5(BPIFA3):c.127+1119_621+52del	BPIFA3, LOC126863015	Deletion (splice acceptor variant +1 more)	Preeclampsia	Gnot provided
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic

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