ClinVar for Gene (Select 23164) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295754	NM_001364716.4(MPRIP):c.192C>G (p.His64Gln)	MPRIP (H64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295753	NM_001364716.4(MPRIP):c.7025C>G (p.Ala2342Gly)	MPRIP (A2342G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295752	NM_001364716.4(MPRIP):c.691C>T (p.Pro231Ser)	MPRIP (P231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295751	NM_001364716.4(MPRIP):c.6955C>G (p.Arg2319Gly)	MPRIP (R2319G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295750	NM_001364716.4(MPRIP):c.1288A>G (p.Ile430Val)	MPRIP (I312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295749	NM_001364716.4(MPRIP):c.7012G>A (p.Ala2338Thr)	MPRIP (A2338T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203389	NM_001364716.4(MPRIP):c.1337C>G (p.Ser446Cys)	MPRIP (S328C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203374	NM_001364716.4(MPRIP):c.838G>A (p.Glu280Lys)	MPRIP (E280K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203370	NM_001364716.4(MPRIP):c.760C>T (p.Arg254Cys)	MPRIP (R254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203362	NM_001364716.4(MPRIP):c.719G>A (p.Gly240Glu)	MPRIP (G240E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203354	NM_001364716.4(MPRIP):c.5C>G (p.Ser2Trp)	MPRIP (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203341	NM_001364716.4(MPRIP):c.394G>A (p.Ala132Thr)	MPRIP (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203317	NM_001364716.4(MPRIP):c.298A>G (p.Met100Val)	MPRIP (M100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203308	NM_001364716.4(MPRIP):c.6956G>A (p.Arg2319Gln)	MPRIP (R932Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203291	NM_001364716.4(MPRIP):c.6790C>T (p.Arg2264Trp)	MPRIP (R877W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203288	NM_001364716.4(MPRIP):c.6716A>G (p.Gln2239Arg)	MPRIP (Q2239R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203283	NM_001364716.4(MPRIP):c.6613C>T (p.Arg2205Trp)	MPRIP (R2205W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203269	NM_001364716.4(MPRIP):c.2482C>T (p.Arg828Trp)	MPRIP (R828W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203265	NM_001364716.4(MPRIP):c.2447G>A (p.Arg816Gln)	MPRIP (R698Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203252	NM_001364716.4(MPRIP):c.2329G>A (p.Val777Ile)	MPRIP (V777I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203242	NM_001364716.4(MPRIP):c.2299C>T (p.Arg767Trp)	MPRIP (R767W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203237	NM_001364716.4(MPRIP):c.2137C>T (p.Arg713Cys)	MPRIP (R713C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203228	NM_001364716.4(MPRIP):c.2000G>A (p.Arg667His)	MPRIP (R667H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203204	NM_001364716.4(MPRIP):c.134T>C (p.Ile45Thr)	MPRIP (I45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203189	NM_001364716.4(MPRIP):c.1639T>G (p.Leu547Val)	MPRIP (L429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063524	GRCh37/hg19 17p11.2(chr17:16936031-17654594)x3	COPS3, FLCN +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063490	GRCh37/hg19 17p11.2(chr17:17065497-17121645)x3	FLCN, MPRIP +1 more	Copy number gain	not specified	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 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2672690	NM_001364716.4(MPRIP):c.2517+6G>A	MPRIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2672689	NM_001364716.4(MPRIP):c.536GCA[8] (p.Ser187_Ser189del)	MPRIP	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	GPathogenic
Select item 2647518	NM_001364716.4(MPRIP):c.6877T>C (p.Leu2293=)	MPRIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647517	NM_001364716.4(MPRIP):c.4947C>T (p.Asp1649=)	MPRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647516	NM_001364716.4(MPRIP):c.4761A>T (p.Thr1587=)	MPRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647515	NM_001364716.4(MPRIP):c.4032C>T (p.Ser1344=)	MPRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647514	NM_001364716.4(MPRIP):c.3931G>A (p.Asp1311Asn)	MPRIP (D1311N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647513	NM_001364716.4(MPRIP):c.3486G>T (p.Leu1162=)	MPRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647512	NM_001364716.4(MPRIP):c.2733T>A (p.Ala911=)	MPRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647511	NM_001364716.4(MPRIP):c.1218G>A (p.Glu406=)	MPRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647510	NM_001364716.4(MPRIP):c.585A>G (p.Lys195=)	MPRIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647509	NM_001364716.4(MPRIP):c.193C>T (p.Arg65Trp)	MPRIP (R65W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2620076	NM_001364716.4(MPRIP):c.724G>A (p.Glu242Lys)	MPRIP (E242K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612559	NM_001364716.4(MPRIP):c.438G>C (p.Met146Ile)	MPRIP (M146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601835	NM_001364716.4(MPRIP):c.142G>A (p.Gly48Ser)	MPRIP (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601408	NM_001364716.4(MPRIP):c.1487C>T (p.Thr496Met)	MPRIP (T496M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594054	NM_001364716.4(MPRIP):c.1306A>G (p.Met436Val)	MPRIP (M436V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560802	NM_001364716.4(MPRIP):c.1601G>A (p.Arg534Lys)	MPRIP (R416K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2555165	NM_001364716.4(MPRIP):c.1717C>A (p.His573Asn)	MPRIP (H573N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528852	NM_001364716.4(MPRIP):c.1284G>C (p.Leu428Phe)	MPRIP (L310F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526236	NM_001364716.4(MPRIP):c.871C>G (p.Pro291Ala)	MPRIP (P291A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519844	NM_001364716.4(MPRIP):c.6824C>A (p.Ala2275Asp)	MPRIP (A888D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519571	NM_001364716.4(MPRIP):c.2243A>G (p.His748Arg)	MPRIP (H630R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517724	NM_001364716.4(MPRIP):c.436A>G (p.Met146Val)	MPRIP (M146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514567	NM_001364716.4(MPRIP):c.6823G>T (p.Ala2275Ser)	MPRIP (A2275S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2483040	NM_001364716.4(MPRIP):c.1970G>A (p.Arg657His)	MPRIP (R657H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482515	NM_001364716.4(MPRIP):c.103A>G (p.Asn35Asp)	MPRIP (N35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478691	NM_001364716.4(MPRIP):c.1265T>C (p.Ile422Thr)	MPRIP (I304T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469749	NM_001364716.4(MPRIP):c.6580C>T (p.Arg2194Cys)	MPRIP (R807C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458600	NM_001364716.4(MPRIP):c.7226C>T (p.Thr2409Met)	MPRIP (T1022M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457333	NM_001364716.4(MPRIP):c.6553G>A (p.Val2185Ile)	MPRIP (V2185I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456178	NM_001364716.4(MPRIP):c.1851C>G (p.Asn617Lys)	MPRIP (N617K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2394168	NM_001364716.4(MPRIP):c.1880C>T (p.Pro627Leu)	MPRIP (P627L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389572	NM_001364716.4(MPRIP):c.1919C>T (p.Pro640Leu)	MPRIP (P522L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383773	NM_001364716.4(MPRIP):c.56A>G (p.Lys19Arg)	MPRIP (K19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369462	NM_001364716.4(MPRIP):c.7238G>A (p.Arg2413Gln)	MPRIP (R2413Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366224	NM_001364716.4(MPRIP):c.2219T>C (p.Leu740Pro)	MPRIP (L622P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355383	NM_001364716.4(MPRIP):c.1585G>A (p.Ala529Thr)	MPRIP (A529T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352881	NM_001364716.4(MPRIP):c.7061A>G (p.Lys2354Arg)	MPRIP (K2354R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336583	NM_001364716.4(MPRIP):c.6371A>G (p.Lys2124Arg)	MPRIP (K2124R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332260	NM_001364716.4(MPRIP):c.2129G>A (p.Arg710His)	MPRIP (R592H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322502	NM_001364716.4(MPRIP):c.2324C>T (p.Ala775Val)	MPRIP (A657V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322501	NM_001364716.4(MPRIP):c.1642G>C (p.Asp548His)	MPRIP (D548H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313367	NM_001364716.4(MPRIP):c.1832C>T (p.Ser611Leu)	MPRIP (S493L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305629	NM_001364716.4(MPRIP):c.1457G>A (p.Arg486Gln)	MPRIP (R486Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304298	NM_001364716.4(MPRIP):c.2030G>T (p.Arg677Leu)	MPRIP (R559L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303939	NM_001364716.4(MPRIP):c.566G>T (p.Ser189Ile)	MPRIP (S189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287184	NM_001364716.4(MPRIP):c.1358G>A (p.Arg453His)	MPRIP (R453H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283577	NM_001364716.4(MPRIP):c.7154T>G (p.Leu2385Trp)	MPRIP (L998W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278426	NM_001364716.4(MPRIP):c.7202C>T (p.Ser2401Phe)	MPRIP (S1014F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274129	NM_001364716.4(MPRIP):c.7217A>G (p.Glu2406Gly)	MPRIP (E1019G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270161	NM_001364716.4(MPRIP):c.2072G>A (p.Arg691His)	MPRIP (R573H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267520	NM_001364716.4(MPRIP):c.6992T>C (p.Ile2331Thr)	MPRIP (I944T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256656	NM_001364716.4(MPRIP):c.698C>G (p.Ala233Gly)	MPRIP (A233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252362	NM_001364716.4(MPRIP):c.1718A>G (p.His573Arg)	MPRIP (H455R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230356	NM_001364716.4(MPRIP):c.2332C>T (p.His778Tyr)	MPRIP (H778Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227612	NM_001364716.4(MPRIP):c.2446C>T (p.Arg816Trp)	MPRIP (R698W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211896	NM_001364716.4(MPRIP):c.6691G>A (p.Glu2231Lys)	MPRIP (E2231K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208368	NM_001364716.4(MPRIP):c.710G>A (p.Arg237Gln)	MPRIP (R237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206675	NM_001364716.4(MPRIP):c.2081C>T (p.Ala694Val)	MPRIP (A576V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	MIR33B, MPRIP +48 more	Copy number loss	not provided	GPathogenic

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