16179[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 60

	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 3261387	NM_182519.3(BPIFB4):c.11C>T (p.Ala4Val)	BPIFB4 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261380	NM_182519.3(BPIFB4):c.23C>T (p.Ala8Val)	BPIFB4 (A8V)	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 2652263	NM_182519.3(BPIFB4):c.72G>A (p.Thr24=)	BPIFB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3261385	NM_182519.3(BPIFB4):c.94G>A (p.Val32Met)	BPIFB4 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652264	NM_182519.3(BPIFB4):c.169+107T>G	BPIFB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652265	NM_182519.3(BPIFB4):c.170-154T>C	BPIFB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 3134849	NM_182519.3(BPIFB4):c.248G>A (p.Gly83Asp)	BPIFB4 (G83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261382	NM_182519.3(BPIFB4):c.280G>A (p.Asp94Asn)	BPIFB4 (D94N)	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 2271016	NM_182519.3(BPIFB4):c.299G>C (p.Gly100Ala)	BPIFB4 (G100A)	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 2240072	NM_182519.3(BPIFB4):c.476C>A (p.Pro159His)	BPIFB4 (P159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2282719	NM_182519.3(BPIFB4):c.531G>C (p.Met177Ile)	BPIFB4 (M177I)	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 3134852	NM_182519.3(BPIFB4):c.557G>A (p.Gly186Asp)	BPIFB4 (G186D)	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 3134853	NM_182519.3(BPIFB4):c.647G>A (p.Gly216Asp)	BPIFB4 (G216D)	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 2354715	NM_182519.3(BPIFB4):c.706C>T (p.Arg236Trp)	BPIFB4 (R236W)	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 3261383	NM_182519.3(BPIFB4):c.731G>C (p.Gly244Ala)	BPIFB4 (G244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261381	NM_182519.3(BPIFB4):c.760C>T (p.Arg254Cys)	BPIFB4 (R254C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2549065	NM_182519.3(BPIFB4):c.835C>G (p.Arg279Gly)	BPIFB4 (R279G)	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 3261388	NM_182519.3(BPIFB4):c.866G>C (p.Arg289Pro)	BPIFB4 (R289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2467981	NM_182519.3(BPIFB4):c.973G>A (p.Asp325Asn)	BPIFB4 (D325N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3261384	NM_182519.3(BPIFB4):c.1360C>G (p.Pro454Ala)	BPIFB4 (P454A)	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 2283977	NM_182519.3(BPIFB4):c.1520T>C (p.Met507Thr)	BPIFB4 (M507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2366640	NM_182519.3(BPIFB4):c.1597A>G (p.Thr533Ala)	BPIFB4 (T533A)	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 3134847	NM_182519.3(BPIFB4):c.1669G>A (p.Gly557Ser)	BPIFB4 (G557S)	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 3134848	NM_182519.3(BPIFB4):c.1808T>C (p.Ile603Thr)	BPIFB4 (I603T)	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60