BPIFB1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 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
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 786969	NM_033197.3(BPIFB1):c.12G>A (p.Pro4=)	BPIFB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2327631	NM_033197.3(BPIFB1):c.94G>C (p.Gly32Arg)	BPIFB1 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134821	NM_033197.3(BPIFB1):c.106A>G (p.Ile36Val)	BPIFB1 (I36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780603	NM_033197.3(BPIFB1):c.116A>G (p.Lys39Arg)	BPIFB1 (K39R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134824	NM_033197.3(BPIFB1):c.143A>G (p.Asn48Ser)	BPIFB1 (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344642	NM_033197.3(BPIFB1):c.170C>T (p.Pro57Leu)	BPIFB1 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259435	NM_033197.3(BPIFB1):c.181G>T (p.Ala61Ser)	BPIFB1 (A61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259437	NM_033197.3(BPIFB1):c.182C>A (p.Ala61Asp)	BPIFB1 (A61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590536	NM_033197.3(BPIFB1):c.187C>T (p.Arg63Trp)	BPIFB1 (R63W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560276	NM_033197.3(BPIFB1):c.238G>A (p.Val80Ile)	BPIFB1 (V80I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 714898	NM_033197.3(BPIFB1):c.337C>T (p.Pro113Ser)	BPIFB1 (P113S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134825	NM_033197.3(BPIFB1):c.386T>C (p.Val129Ala)	BPIFB1 (V129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775647	NM_033197.3(BPIFB1):c.418A>G (p.Thr140Ala)	BPIFB1 (T140A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2349018	NM_033197.3(BPIFB1):c.607G>A (p.Val203Met)	BPIFB1 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468292	NM_033197.3(BPIFB1):c.698A>T (p.Asp233Val)	BPIFB1 (D233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259507	NM_033197.3(BPIFB1):c.818C>G (p.Pro273Arg)	BPIFB1 (P273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134826	NM_033197.3(BPIFB1):c.821C>T (p.Thr274Ile)	BPIFB1 (T274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214599	NM_033197.3(BPIFB1):c.865G>A (p.Val289Met)	BPIFB1 (V289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134827	NM_033197.3(BPIFB1):c.940G>T (p.Ala314Ser)	BPIFB1 (A314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603629	NM_033197.3(BPIFB1):c.947G>A (p.Arg316Gln)	BPIFB1 (R316Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264589	NM_033197.3(BPIFB1):c.982G>C (p.Ala328Pro)	BPIFB1 (A328P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134822	NM_033197.3(BPIFB1):c.1160A>T (p.Gln387Leu)	BPIFB1 (Q387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538631	NM_033197.3(BPIFB1):c.1201A>C (p.Asn401His)	BPIFB1 (N401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352479	NM_033197.3(BPIFB1):c.1238G>A (p.Gly413Glu)	BPIFB1 (G413E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611718	NM_033197.3(BPIFB1):c.1261G>A (p.Val421Ile)	BPIFB1 (V421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134823	NM_033197.3(BPIFB1):c.1369G>A (p.Glu457Lys)	BPIFB1 (E457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310954	NM_033197.3(BPIFB1):c.1400C>G (p.Ala467Gly)	BPIFB1 (A467G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 40