RPEL1[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 3155960	NM_001143909.1(RPEL1):c.26C>T (p.Pro9Leu)	RPEL1 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530238	NM_001143909.1(RPEL1):c.76A>G (p.Met26Val)	RPEL1 (M26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536443	NM_001143909.1(RPEL1):c.86C>T (p.Ser29Phe)	RPEL1 (S29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315141	NM_001143909.1(RPEL1):c.92C>T (p.Ala31Val)	RPEL1 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335799	NM_001143909.1(RPEL1):c.181C>G (p.Leu61Val)	RPEL1 (L61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271219	NM_001143909.1(RPEL1):c.238G>A (p.Val80Ile)	RPEL1 (V80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237658	NM_001143909.1(RPEL1):c.253G>A (p.Val85Ile)	RPEL1 (V85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466438	NM_001143909.1(RPEL1):c.308C>T (p.Thr103Ile)	RPEL1 (T103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388697	NM_001143909.1(RPEL1):c.331A>T (p.Asn111Tyr)	RPEL1 (N111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485642	NM_001143909.1(RPEL1):c.388C>A (p.Pro130Thr)	RPEL1 (P130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315142	NM_001143909.1(RPEL1):c.421A>G (p.Met141Val)	RPEL1 (M141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402546	NM_001143909.1(RPEL1):c.478G>T (p.Val160Phe)	RPEL1 (V160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531419	NM_001143909.1(RPEL1):c.493A>T (p.Thr165Ser)	RPEL1 (T165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155961	NM_001143909.1(RPEL1):c.512A>G (p.Asp171Gly)	RPEL1 (D171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155962	NM_001143909.1(RPEL1):c.541G>A (p.Asp181Asn)	RPEL1 (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155963	NM_001143909.1(RPEL1):c.614A>T (p.Asp205Val)	RPEL1 (D205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460421	NM_001143909.1(RPEL1):c.616C>T (p.Pro206Ser)	RPEL1 (P206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214743	NM_001143909.1(RPEL1):c.671G>A (p.Arg224His)	RPEL1 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 24