BPIFB6[gene] - ClinVar

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Items: 50

	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 151392	GRCh38/hg38 20q11.21(chr20:33002915-33065173)x3	BPIFB2, BPIFB3 +2 more	Copy number gain	See cases	GBenign
Select item 2458793	NM_174897.2(BPIFB6):c.50G>A (p.Arg17Gln)	BPIFB6 (R17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210659	NM_174897.2(BPIFB6):c.74G>A (p.Arg25Gln)	BPIFB6 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380491	NM_174897.2(BPIFB6):c.109G>A (p.Ala37Thr)	BPIFB6 (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134857	NM_174897.2(BPIFB6):c.121A>G (p.Ser41Gly)	BPIFB6 (S41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134858	NM_174897.2(BPIFB6):c.151G>T (p.Ala51Ser)	BPIFB6 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370841	NM_174897.2(BPIFB6):c.226G>A (p.Val76Ile)	BPIFB6 (V76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134859	NM_174897.2(BPIFB6):c.259A>G (p.Ile87Val)	BPIFB6 (I87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134860	NM_174897.2(BPIFB6):c.292A>G (p.Thr98Ala)	BPIFB6 (T98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652261	NM_174897.2(BPIFB6):c.303-6C>T	BPIFB6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3261390	NM_174897.2(BPIFB6):c.358C>T (p.Arg120Trp)	BPIFB6 (R120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326764	NM_174897.2(BPIFB6):c.368G>A (p.Arg123Gln)	BPIFB6 (R123Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134861	NM_174897.2(BPIFB6):c.466A>G (p.Met156Val)	BPIFB6 (M156V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487560	NM_174897.2(BPIFB6):c.477G>T (p.Lys159Asn)	BPIFB6 (K159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134864	NM_174897.2(BPIFB6):c.580C>T (p.Pro194Ser)	BPIFB6 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134865	NM_174897.2(BPIFB6):c.581C>T (p.Pro194Leu)	BPIFB6 (P194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261392	NM_174897.2(BPIFB6):c.587C>T (p.Pro196Leu)	BPIFB6 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557470	NM_174897.2(BPIFB6):c.592G>A (p.Gly198Ser)	BPIFB6 (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410031	NM_174897.2(BPIFB6):c.607G>A (p.Val203Ile)	BPIFB6 (V203I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134866	NM_174897.2(BPIFB6):c.628G>A (p.Ala210Thr)	BPIFB6 (A210T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223007	NM_174897.2(BPIFB6):c.634G>A (p.Ala212Thr)	BPIFB6 (A212T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134867	NM_174897.2(BPIFB6):c.718G>A (p.Gly240Arg)	BPIFB6 (G240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255533	NM_174897.2(BPIFB6):c.724G>A (p.Ala242Thr)	BPIFB6 (A242T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206881	NM_174897.2(BPIFB6):c.737C>A (p.Pro246His)	BPIFB6 (P246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134868	NM_174897.2(BPIFB6):c.791C>G (p.Ser264Cys)	BPIFB6 (S264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234272	NM_174897.2(BPIFB6):c.916C>T (p.Pro306Ser)	BPIFB6 (P306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603796	NM_174897.2(BPIFB6):c.973A>G (p.Met325Val)	BPIFB6 (M325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292865	NM_174897.2(BPIFB6):c.977A>G (p.Lys326Arg)	BPIFB6 (K326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261389	NM_174897.2(BPIFB6):c.1178G>A (p.Gly393Asp)	BPIFB6 (G393D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311654	NM_174897.2(BPIFB6):c.1243G>A (p.Val415Ile)	BPIFB6 (V415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598026	NM_174897.2(BPIFB6):c.1264G>C (p.Val422Leu)	BPIFB6 (V422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458488	NM_174897.2(BPIFB6):c.1280C>T (p.Pro427Leu)	BPIFB6 (P427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261391	NM_174897.2(BPIFB6):c.1306C>G (p.Leu436Val)	BPIFB6 (L436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488441	NM_174897.2(BPIFB6):c.1334C>A (p.Ala445Asp)	BPIFB6 (A445D)	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

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Items: 50