BPIFA1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
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 2517257	NM_130852.3(BPIFA1):c.23T>C (p.Ile8Thr)	BPIFA1 (I8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380931	NM_130852.3(BPIFA1):c.62T>A (p.Phe21Tyr)	BPIFA1 (F21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362814	NM_130852.3(BPIFA1):c.76G>A (p.Val26Met)	BPIFA1 (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311262	NM_130852.3(BPIFA1):c.76G>T (p.Val26Leu)	BPIFA1 (V26L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341436	NM_130852.3(BPIFA1):c.88C>G (p.Gln30Glu)	BPIFA1 (Q30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134807	NM_130852.3(BPIFA1):c.121C>T (p.Pro41Ser)	BPIFA1 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208442	NM_130852.3(BPIFA1):c.239G>A (p.Gly80Glu)	BPIFA1 (G80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724437	NM_130852.3(BPIFA1):c.309C>G (p.Asn103Lys)	BPIFA1 (N103K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2269452	NM_130852.3(BPIFA1):c.324A>G (p.Ile108Met)	BPIFA1 (I108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354432	NM_130852.3(BPIFA1):c.392T>C (p.Val131Ala)	BPIFA1 (V131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219495	NM_130852.3(BPIFA1):c.475A>T (p.Ile159Phe)	BPIFA1 (I159F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483059	NM_130852.3(BPIFA1):c.478A>G (p.Thr160Ala)	BPIFA1 (T160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261368	NM_130852.3(BPIFA1):c.496G>A (p.Val166Met)	BPIFA1 (V166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134808	NM_130852.3(BPIFA1):c.544C>T (p.His182Tyr)	BPIFA1 (H182Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721598	NM_130852.3(BPIFA1):c.562C>A (p.Gln188Lys)	BPIFA1 (Q188K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3261369	NM_130852.3(BPIFA1):c.646C>T (p.Pro216Ser)	BPIFA1 (P216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207755	NM_130852.3(BPIFA1):c.745G>A (p.Gly249Arg)	BPIFA1 (G249R)	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 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	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 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

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Items: 32