ClinVar for Gene (Select 128861) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261372	NM_178466.5(BPIFA3):c.422A>T (p.His141Leu)	BPIFA3 (H105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261371	NM_178466.5(BPIFA3):c.53C>T (p.Pro18Leu)	BPIFA3 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3134820	NM_178466.5(BPIFA3):c.730C>T (p.Pro244Ser)	BPIFA3 (P208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134819	NM_178466.5(BPIFA3):c.433G>A (p.Val145Ile)	BPIFA3 (V109I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134818	NM_178466.5(BPIFA3):c.394G>A (p.Asp132Asn)	BPIFA3 (D96N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134817	NM_178466.5(BPIFA3):c.260A>G (p.Gln87Arg)	BPIFA3, LOC126863015 (Q87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134816	NM_178466.5(BPIFA3):c.25C>T (p.Leu9Phe)	BPIFA3 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134815	NM_178466.5(BPIFA3):c.258C>A (p.His86Gln)	BPIFA3, LOC126863015 (H86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134814	NM_178466.5(BPIFA3):c.217G>A (p.Ala73Thr)	BPIFA3, LOC126863015 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134813	NM_178466.5(BPIFA3):c.140G>A (p.Gly47Asp)	BPIFA3, LOC126863015 (G47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 3059896	NM_178466.5(BPIFA3):c.406G>A (p.Val136Ile)	BPIFA3 (V100I +1 more)	Single nucleotide variant (missense variant)	BPIFA3-related disorder	GBenign
Select item 3045464	NM_178466.5(BPIFA3):c.326C>A (p.Ser109Ter)	BPIFA3, LOC126863015 (S109*)	Single nucleotide variant (nonsense +1 more)	BPIFA3-related disorder	GBenign
Select item 3041043	NM_178466.5(BPIFA3):c.496G>A (p.Asp166Asn)	BPIFA3 (D130N +1 more)	Single nucleotide variant (missense variant)	BPIFA3-related disorder	GLikely benign
Select item 3040241	NM_178466.5(BPIFA3):c.495C>A (p.Cys165Ter)	BPIFA3 (C129* +1 more)	Single nucleotide variant (nonsense)	BPIFA3-related disorder	GBenign
Select item 3037591	NM_178466.5(BPIFA3):c.602C>T (p.Pro201Leu)	BPIFA3 (P165L +1 more)	Single nucleotide variant (missense variant)	BPIFA3-related disorder	GBenign
Select item 2411968	NM_178466.5(BPIFA3):c.394G>C (p.Asp132His)	BPIFA3 (D132H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373475	NM_178466.5(BPIFA3):c.245G>C (p.Ser82Thr)	BPIFA3, LOC126863015 (S82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338629	NM_178466.5(BPIFA3):c.58G>T (p.Ala20Ser)	BPIFA3 (A20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308605	NM_178466.5(BPIFA3):c.157G>A (p.Ala53Thr)	BPIFA3, LOC126863015 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283723	NM_178466.5(BPIFA3):c.347C>T (p.Ser116Leu)	BPIFA3, LOC126863015 (S116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282067	NM_178466.5(BPIFA3):c.436G>T (p.Val146Leu)	BPIFA3 (V110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252394	NM_178466.5(BPIFA3):c.668T>C (p.Leu223Pro)	BPIFA3 (L223P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222954	NM_178466.5(BPIFA3):c.38G>A (p.Gly13Glu)	BPIFA3 (G13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
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	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40