RAB11FIP4[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 152402	GRCh38/hg38 17q11.2(chr17:31354282-31441410)x3	LOC125177454, LOC130060657 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2534512	NM_032932.6(RAB11FIP4):c.22T>G (p.Ser8Ala)	RAB11FIP4 (S8A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280319	NM_032932.6(RAB11FIP4):c.31C>T (p.Pro11Ser)	RAB11FIP4 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221195	NM_032932.6(RAB11FIP4):c.64C>T (p.Arg22Cys)	RAB11FIP4 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257428	NM_032932.6(RAB11FIP4):c.93C>G (p.Asp31Glu)	RAB11FIP4 (D31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284156	NM_032932.6(RAB11FIP4):c.127G>A (p.Ala43Thr)	RAB11FIP4 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150583	NM_032932.6(RAB11FIP4):c.289G>A (p.Ala97Thr)	RAB11FIP4 (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385263	NM_032932.6(RAB11FIP4):c.296C>T (p.Thr99Met)	RAB11FIP4 (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148639	GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1	COPRS, LOC108783653 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2482216	NM_032932.6(RAB11FIP4):c.343G>A (p.Glu115Lys)	RAB11FIP4 (E13K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324275	NM_032932.6(RAB11FIP4):c.411C>A (p.Asp137Glu)	RAB11FIP4 (D137E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150584	NM_032932.6(RAB11FIP4):c.508G>A (p.Gly170Arg)	RAB11FIP4 (G170R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335462	NM_032932.6(RAB11FIP4):c.508G>T (p.Gly170Trp)	RAB11FIP4 (G170W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150585	NM_032932.6(RAB11FIP4):c.520G>A (p.Glu174Lys)	RAB11FIP4 (E174K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309574	NM_032932.6(RAB11FIP4):c.1175C>T (p.Thr392Met)	RAB11FIP4 (T132M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301509	NM_032932.6(RAB11FIP4):c.1186G>T (p.Ala396Ser)	RAB11FIP4 (A229S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620733	NM_032932.6(RAB11FIP4):c.1229A>G (p.Lys410Arg)	RAB11FIP4 (K150R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517210	NM_032932.6(RAB11FIP4):c.1238G>A (p.Arg413Lys)	RAB11FIP4 (R311K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228424	NM_032932.6(RAB11FIP4):c.1292A>G (p.Glu431Gly)	RAB11FIP4 (E290G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363469	NM_032932.6(RAB11FIP4):c.1415T>C (p.Met472Thr)	RAB11FIP4 (M305T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518555	NM_032932.6(RAB11FIP4):c.1473G>T (p.Lys491Asn)	RAB11FIP4 (K324N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459443	NM_032932.6(RAB11FIP4):c.1487C>T (p.Thr496Met)	RAB11FIP4 (T329M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150581	NM_032932.6(RAB11FIP4):c.1601A>G (p.Asn534Ser)	RAB11FIP4 (N274S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350995	NM_032932.6(RAB11FIP4):c.1612C>T (p.Arg538Cys)	RAB11FIP4 (R278C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365900	NM_032932.6(RAB11FIP4):c.1656G>C (p.Glu552Asp)	RAB11FIP4 (E385D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468035	NM_032932.6(RAB11FIP4):c.1753G>A (p.Ala585Thr)	RAB11FIP4 (A418T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150582	NM_032932.6(RAB11FIP4):c.1790G>A (p.Arg597His)	RAB11FIP4 (R597H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621987	NM_032932.6(RAB11FIP4):c.1838G>A (p.Arg613Gln)	RAB11FIP4 (R511Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161785	NM_032932.6(RAB11FIP4):c.1901A>T (p.Glu634Val)	RAB11FIP4 (E634V +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3242912	NC_000017.10:g.(?_29585391)_(29760973_?)del	EVI2A, EVI2B +3 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Café-au-lait macules with pulmonary stenosis +3 more	GPathogenic
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 1710521	GRCh37/hg19 17q11.2(chr17:29076232-30043725)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 929369	GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1	COPRS, EVI2A +8 more	Copy number loss	See cases	GPathogenic
Select item 815924	GRCh37/hg19 17q11.2(chr17:29373189-30412788)x1	NF1, SUZ12 +8 more	Copy number loss	not provided	GPathogenic
Select item 815923	GRCh37/hg19 17q11.2(chr17:29088218-30159137)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic
Select item 687019	GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685655	GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 666441	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	ADAP2, ATAD5 +12 more	Copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GPathogenic
Select item 625731	GRCh37/hg19 17q11.2(chr17:29111368-30183819)	ADAP2, ATAD5 +10 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564426	GRCh37/hg19 17q11.2(chr17:29003358-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 564425	GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	CRLF3, ADAP2 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ATAD5, COPRS +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 443291	GRCh37/hg19 17q11.2(chr17:29103348-30298773)x1	ADAP2, ATAD5 +12 more	Copy number loss	See cases	GPathogenic
Select item 442660	GRCh37/hg19 17q11.2(chr17:28993036-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	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 441568	GRCh37/hg19 17q11.2(chr17:28997791-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 394485	GRCh37/hg19 17q11.2(chr17:28959760-30367155)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 374370	Single allele	EVI2A, EVI2B +10 more	Duplication	Global developmental delay +2 more	GLikely pathogenic
Select item 253816	GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1	RHBDL3, RHOT1 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 78