ClinVar for Gene (Select 91523) - ClinVar

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

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305083	NM_138371.3(PCED1B):c.1170G>C (p.Gln390His)	PCED1B (Q390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305082	NM_138371.3(PCED1B):c.539A>G (p.Lys180Arg)	PCED1B (K180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305081	NM_138371.3(PCED1B):c.1190A>G (p.His397Arg)	PCED1B (H397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305080	NM_138371.3(PCED1B):c.293A>G (p.Tyr98Cys)	PCED1B (Y98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305079	NM_138371.3(PCED1B):c.1211G>A (p.Arg404His)	PCED1B (R404H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210157	NM_138371.3(PCED1B):c.430G>C (p.Glu144Gln)	PCED1B (E144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210156	NM_138371.3(PCED1B):c.373C>T (p.Leu125Phe)	PCED1B (L125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210154	NM_138371.3(PCED1B):c.1262G>C (p.Arg421Thr)	PCED1B (R421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210153	NM_138371.3(PCED1B):c.1231C>T (p.Pro411Ser)	PCED1B (P411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2520029	NM_138371.3(PCED1B):c.716G>A (p.Cys239Tyr)	PCED1B (C239Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475530	NM_138371.3(PCED1B):c.190G>A (p.Gly64Arg)	PCED1B (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473811	NM_138371.3(PCED1B):c.524G>A (p.Gly175Asp)	PCED1B (G175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402613	NM_138371.3(PCED1B):c.308A>G (p.Gln103Arg)	PCED1B (Q103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388938	NM_138371.3(PCED1B):c.737C>T (p.Ala246Val)	PCED1B (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382856	NM_138371.3(PCED1B):c.905T>C (p.Leu302Pro)	PCED1B (L302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345560	NM_138371.3(PCED1B):c.359T>C (p.Ile120Thr)	PCED1B (I120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281020	NM_138371.3(PCED1B):c.784G>A (p.Val262Met)	PCED1B (V262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258503	NM_138371.3(PCED1B):c.22G>A (p.Glu8Lys)	PCED1B (E8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257909	NM_138371.3(PCED1B):c.1174C>A (p.Pro392Thr)	PCED1B (P392T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226059	NM_138371.3(PCED1B):c.83C>G (p.Ala28Gly)	PCED1B (A28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 815526	GRCh37/hg19 12q13.11(chr12:47482166-47687667)x1	PCED1B	Copy number loss	not provided	GUncertain significance
Select item 815525	GRCh37/hg19 12q13.11(chr12:47282530-48028524)x3	AMIGO2, PCED1B	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	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
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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

Links from Gene

Items: 32