ClinVar for Gene (Select 149954) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134856	NM_182519.3(BPIFB4):c.820A>G (p.Ile274Val)	BPIFB4 (I274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134855	NM_182519.3(BPIFB4):c.718C>T (p.Arg240Trp)	BPIFB4 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134854	NM_182519.3(BPIFB4):c.674C>T (p.Thr225Met)	BPIFB4 (T225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134853	NM_182519.3(BPIFB4):c.647G>A (p.Gly216Asp)	BPIFB4 (G216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134852	NM_182519.3(BPIFB4):c.557G>A (p.Gly186Asp)	BPIFB4 (G186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134851	NM_182519.3(BPIFB4):c.553G>T (p.Ala185Ser)	BPIFB4 (A185S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134850	NM_182519.3(BPIFB4):c.530T>C (p.Met177Thr)	BPIFB4 (M177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134849	NM_182519.3(BPIFB4):c.248G>A (p.Gly83Asp)	BPIFB4 (G83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134848	NM_182519.3(BPIFB4):c.1808T>C (p.Ile603Thr)	BPIFB4 (I603T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134847	NM_182519.3(BPIFB4):c.1669G>A (p.Gly557Ser)	BPIFB4 (G557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134846	NM_182519.3(BPIFB4):c.1652T>A (p.Leu551His)	BPIFB4 (L551H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134845	NM_182519.3(BPIFB4):c.1426C>T (p.Pro476Ser)	BPIFB4 (P476S)	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 2652265	NM_182519.3(BPIFB4):c.170-154T>C	BPIFB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652264	NM_182519.3(BPIFB4):c.169+107T>G	BPIFB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652263	NM_182519.3(BPIFB4):c.72G>A (p.Thr24=)	BPIFB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621843	NM_182519.3(BPIFB4):c.1562T>C (p.Ile521Thr)	BPIFB4 (I521T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599409	NM_182519.3(BPIFB4):c.334G>A (p.Glu112Lys)	BPIFB4 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549065	NM_182519.3(BPIFB4):c.835C>G (p.Arg279Gly)	BPIFB4 (R279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532960	NM_182519.3(BPIFB4):c.631G>A (p.Val211Met)	BPIFB4 (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524148	NM_182519.3(BPIFB4):c.865C>T (p.Arg289Trp)	BPIFB4 (R289W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482490	NM_182519.3(BPIFB4):c.289G>T (p.Ala97Ser)	BPIFB4 (A97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467981	NM_182519.3(BPIFB4):c.973G>A (p.Asp325Asn)	BPIFB4 (D325N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465988	NM_182519.3(BPIFB4):c.938A>G (p.Asn313Ser)	BPIFB4 (N313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407671	NM_182519.3(BPIFB4):c.1687C>T (p.Leu563Phe)	BPIFB4 (L563F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379586	NM_182519.3(BPIFB4):c.217C>G (p.Pro73Ala)	BPIFB4 (P73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373343	NM_182519.3(BPIFB4):c.218C>A (p.Pro73Gln)	BPIFB4 (P73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366640	NM_182519.3(BPIFB4):c.1597A>G (p.Thr533Ala)	BPIFB4 (T533A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354715	NM_182519.3(BPIFB4):c.706C>T (p.Arg236Trp)	BPIFB4 (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348886	NM_182519.3(BPIFB4):c.178G>A (p.Asp60Asn)	BPIFB4 (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295507	NM_182519.3(BPIFB4):c.26C>T (p.Ala9Val)	BPIFB4 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283977	NM_182519.3(BPIFB4):c.1520T>C (p.Met507Thr)	BPIFB4 (M507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282719	NM_182519.3(BPIFB4):c.531G>C (p.Met177Ile)	BPIFB4 (M177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272652	NM_182519.3(BPIFB4):c.76C>A (p.Leu26Ile)	BPIFB4 (L26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271016	NM_182519.3(BPIFB4):c.299G>C (p.Gly100Ala)	BPIFB4 (G100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258350	NM_182519.3(BPIFB4):c.1278C>G (p.Phe426Leu)	BPIFB4 (F426L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240072	NM_182519.3(BPIFB4):c.476C>A (p.Pro159His)	BPIFB4 (P159H)	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	KIF3B, KIZ +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 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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Links from Gene

Items: 50