RABEP1[gene] - ClinVar

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

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 153939	GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3	C1QBP, DERL2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 2313922	NM_004703.6(RABEP1):c.5C>A (p.Ala2Glu)	LOC130060072, RABEP1 (A2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534515	NM_004703.6(RABEP1):c.22T>C (p.Ser8Pro)	LOC130060072, RABEP1 (S8P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231168	NM_004703.6(RABEP1):c.69A>C (p.Lys23Asn)	RABEP1 (K23N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297211	NM_004703.6(RABEP1):c.328T>G (p.Trp110Gly)	RABEP1 (W67G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251389	NM_004703.6(RABEP1):c.397C>T (p.His133Tyr)	RABEP1 (H133Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406343	NM_004703.6(RABEP1):c.448G>A (p.Ala150Thr)	RABEP1 (A150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150858	NM_004703.6(RABEP1):c.473G>C (p.Arg158Thr)	RABEP1 (R115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521781	NM_004703.6(RABEP1):c.485C>A (p.Ser162Tyr)	RABEP1 (S162Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332684	NM_004703.6(RABEP1):c.485C>G (p.Ser162Cys)	RABEP1 (S119C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267534	NM_004703.6(RABEP1):c.569C>T (p.Pro190Leu)	RABEP1 (P147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243808	NM_004703.6(RABEP1):c.589G>A (p.Ala197Thr)	RABEP1 (A154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256885	NM_004703.6(RABEP1):c.623A>C (p.Lys208Thr)	RABEP1 (K165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613104	NM_004703.6(RABEP1):c.633G>C (p.Glu211Asp)	RABEP1 (E168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467240	NM_004703.6(RABEP1):c.655G>A (p.Glu219Lys)	RABEP1 (E176K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530892	NM_004703.6(RABEP1):c.664C>A (p.His222Asn)	RABEP1 (H222N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605271	NM_004703.6(RABEP1):c.920C>T (p.Ser307Leu)	RABEP1 (S264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150850	NM_004703.6(RABEP1):c.1102T>G (p.Leu368Val)	RABEP1 (L325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647294	NM_004703.6(RABEP1):c.1179G>A (p.Ser393=)	RABEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711993	NM_004703.6(RABEP1):c.1206C>T (p.Leu402=)	RABEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329565	NM_004703.6(RABEP1):c.1361C>T (p.Thr454Ile)	RABEP1 (T411I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150851	NM_004703.6(RABEP1):c.1399A>T (p.Met467Leu)	RABEP1 (M424L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558478	NM_004703.6(RABEP1):c.1605G>A (p.Met535Ile)	RABEP1 (M535I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547063	NM_004703.6(RABEP1):c.1748A>G (p.Asp583Gly)	RABEP1 (D540G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498262	NM_004703.6(RABEP1):c.1768G>A (p.Glu590Lys)	RABEP1 (E547K +1 more)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 2535133	NM_004703.6(RABEP1):c.1782C>A (p.His594Gln)	RABEP1 (H594Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150853	NM_004703.6(RABEP1):c.1790C>G (p.Ser597Cys)	RABEP1 (S554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150854	NM_004703.6(RABEP1):c.1793C>T (p.Ala598Val)	RABEP1 (A555V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211019	NM_004703.6(RABEP1):c.1798G>A (p.Val600Ile)	RABEP1 (V557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150855	NM_004703.6(RABEP1):c.1871T>C (p.Val624Ala)	RABEP1 (V581A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352811	NM_004703.6(RABEP1):c.1979T>G (p.Val660Gly)	RABEP1 (V617G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359945	NM_004703.6(RABEP1):c.2020A>G (p.Thr674Ala)	RABEP1 (T631A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525869	NM_004703.6(RABEP1):c.2080G>A (p.Ala694Thr)	RABEP1 (A651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381718	NM_004703.6(RABEP1):c.2092G>A (p.Val698Ile)	RABEP1 (V698I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150857	NM_004703.6(RABEP1):c.2309A>T (p.Glu770Val)	RABEP1 (E727V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771203	NM_004703.6(RABEP1):c.2371-4T>C	RABEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2462490	NM_004703.6(RABEP1):c.2534G>A (p.Arg845Gln)	RABEP1 (R802Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145540	GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3	C1QBP, DERL2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2548460	NM_002532.6(NUP88):c.2219A>T (p.Asn740Ile)	NUP88, RABEP1 (N740I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647295	NM_002532.6(NUP88):c.2198A>G (p.Asn733Ser)	NUP88, RABEP1 (N733S +1 more)	Single nucleotide variant (missense variant +1 more)	NUP88-related disorder +1 more	GBenign
Select item 1327042	NM_002532.6(NUP88):c.2172T>C (p.His724=)	NUP88, RABEP1	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 4	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685595	GRCh37/hg19 17p13.2(chr17:5133734-5213420)x1	RABEP1, SCIMP	Copy number loss	not provided	GUncertain significance
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1808317	GRCh37/hg19 17p13.2(chr17:4867994-5233679)x1	CAMTA2, INCA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 980143	GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3	RABEP1, RPAIN +6 more	Copy number gain	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 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: 67