RABEP1[gene] - ClinVar

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Items: 68

	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	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 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 3312214	NM_004703.6(RABEP1):c.2146G>A (p.Glu716Lys)	RABEP1 (E673K +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)	not provided	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 +1 more	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +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	ABR, ALOX15 +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)	ABR, ALOX15 +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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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Items: 68