PLBD2[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2314006	NM_173542.4(PLBD2):c.14T>G (p.Met5Arg)	LOC130008840, PLBD2 (M5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364489	NM_173542.4(PLBD2):c.25C>A (p.Pro9Thr)	LOC130008840, PLBD2 (P9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214363	NM_173542.4(PLBD2):c.46G>C (p.Ala16Pro)	LOC130008840, PLBD2 (A16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307307	NM_173542.4(PLBD2):c.58G>A (p.Ala20Thr)	LOC130008840, PLBD2 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401577	NM_173542.4(PLBD2):c.109G>T (p.Gly37Cys)	LOC130008840, PLBD2 (G37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307303	NM_173542.4(PLBD2):c.130G>T (p.Ala44Ser)	LOC130008840, PLBD2 (A44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338664	NM_173542.4(PLBD2):c.134C>T (p.Pro45Leu)	LOC130008840, PLBD2 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550296	NM_173542.4(PLBD2):c.185G>T (p.Arg62Leu)	LOC130008840, PLBD2 (R62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214360	NM_173542.4(PLBD2):c.187T>G (p.Ser63Ala)	LOC130008840, PLBD2 (S63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214361	NM_173542.4(PLBD2):c.212G>A (p.Gly71Asp)	LOC130008840, PLBD2 (G71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307308	NM_173542.4(PLBD2):c.280C>A (p.Arg94Ser)	LOC130008840, PLBD2 (R94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320178	NM_173542.4(PLBD2):c.319G>A (p.Gly107Ser)	PLBD2 (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214362	NM_173542.4(PLBD2):c.436G>A (p.Glu146Lys)	PLBD2 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267952	NM_173542.4(PLBD2):c.457G>A (p.Glu153Lys)	PLBD2 (E153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307305	NM_173542.4(PLBD2):c.472T>G (p.Phe158Val)	PLBD2 (F158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214364	NM_173542.4(PLBD2):c.647T>C (p.Leu216Pro)	PLBD2 (L216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214365	NM_173542.4(PLBD2):c.752T>C (p.Leu251Pro)	PLBD2 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307309	NM_173542.4(PLBD2):c.800A>G (p.Tyr267Cys)	PLBD2 (Y267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214366	NM_173542.4(PLBD2):c.814C>T (p.Arg272Cys)	PLBD2 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214367	NM_173542.4(PLBD2):c.815G>A (p.Arg272His)	PLBD2 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214368	NM_173542.4(PLBD2):c.862G>A (p.Asp288Asn)	PLBD2 (D288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455152	NM_173542.4(PLBD2):c.1012C>T (p.Arg338Trp)	PLBD2 (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513859	NM_173542.4(PLBD2):c.1043G>A (p.Arg348His)	PLBD2 (R348H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214351	NM_173542.4(PLBD2):c.1051G>A (p.Val351Met)	PLBD2 (V351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307302	NM_173542.4(PLBD2):c.1070C>T (p.Ser357Leu)	PLBD2 (S357L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214352	NM_173542.4(PLBD2):c.1094T>A (p.Ile365Asn)	PLBD2 (I365N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307304	NM_173542.4(PLBD2):c.1154C>T (p.Ala385Val)	PLBD2 (A385V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378987	NM_173542.4(PLBD2):c.1189G>A (p.Val397Met)	PLBD2 (V397M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214353	NM_173542.4(PLBD2):c.1234G>C (p.Asp412His)	PLBD2 (D412H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307301	NM_173542.4(PLBD2):c.1248G>C (p.Glu416Asp)	PLBD2 (E416D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214354	NM_173542.4(PLBD2):c.1265A>G (p.Tyr422Cys)	PLBD2 (Y390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214355	NM_173542.4(PLBD2):c.1287G>T (p.Pro429=)	PLBD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2382549	NM_173542.4(PLBD2):c.1373G>A (p.Arg458Gln)	PLBD2 (R458Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373506	NM_173542.4(PLBD2):c.1390C>T (p.Arg464Trp)	PLBD2 (R464W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334317	NM_173542.4(PLBD2):c.1445A>G (p.Asn482Ser)	PLBD2 (N450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343598	NM_173542.4(PLBD2):c.1576C>T (p.Arg526Cys)	PLBD2 (R494C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214357	NM_173542.4(PLBD2):c.1589G>A (p.Gly530Asp)	PLBD2 (G530D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214358	NM_173542.4(PLBD2):c.1658C>T (p.Thr553Met)	PLBD2 (T521M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307306	NM_173542.4(PLBD2):c.1691C>T (p.Thr564Ile)	PLBD2 (T564I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214359	NM_173542.4(PLBD2):c.1721G>A (p.Gly574Asp)	PLBD2 (G574D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1340934	GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3	DDX54, IQCD +5 more	Copy number gain	not provided	GLikely benign
Select item 1252006	NC_000012.11:g.113120652_115362584del	CFAP73, DDX54 +17 more	Deletion	Radial dysplasia +1 more	GPathogenic
Select item 689109	GRCh37/hg19 12q24.13(chr12:113695889-113904780)x1	LHX5, PLBD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49