GRID2IP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 152093	GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	CYTH3, DAGLB +42 more	Copy number gain	See cases	GUncertain significance
Select item 154421	GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	CYTH3, DAGLB +28 more	Copy number loss	See cases	GUncertain significance
Select item 3102384	NM_001145118.2(GRID2IP):c.3625C>G (p.Leu1209Val)	GRID2IP (L1026V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102383	NM_001145118.2(GRID2IP):c.3605G>T (p.Ser1202Ile)	GRID2IP (S1202I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487955	NM_001145118.2(GRID2IP):c.3551T>A (p.Met1184Lys)	GRID2IP (M1001K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538038	NM_001145118.2(GRID2IP):c.3542C>T (p.Ala1181Val)	GRID2IP (A990V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353661	NM_001145118.2(GRID2IP):c.3532G>A (p.Gly1178Ser)	GRID2IP (G995S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352703	NM_001145118.2(GRID2IP):c.3442G>C (p.Gly1148Arg)	GRID2IP (G957R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657299	NM_001145118.2(GRID2IP):c.3363C>T (p.Ser1121=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488037	NM_001145118.2(GRID2IP):c.3203C>G (p.Ala1068Gly)	GRID2IP (A1068G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731756	NM_001145118.2(GRID2IP):c.3177G>A (p.Gly1059=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549036	NM_001145118.2(GRID2IP):c.3036C>A (p.Asn1012Lys)	GRID2IP (N821K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657300	NM_001145118.2(GRID2IP):c.2961C>T (p.Ala987=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657301	NM_001145118.2(GRID2IP):c.2832C>G (p.Ala944=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516024	NM_001145118.2(GRID2IP):c.2804C>G (p.Ala935Gly)	GRID2IP (A752G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410196	NM_001145118.2(GRID2IP):c.2799T>A (p.His933Gln)	GRID2IP (H742Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489882	NM_001145118.2(GRID2IP):c.2756A>G (p.Gln919Arg)	GRID2IP (Q736R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102379	NM_001145118.2(GRID2IP):c.2650G>C (p.Glu884Gln)	GRID2IP (E701Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102378	NM_001145118.2(GRID2IP):c.2629G>T (p.Ala877Ser)	GRID2IP (A686S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543515	NM_001145118.2(GRID2IP):c.2566G>A (p.Asp856Asn)	GRID2IP (D673N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239408	NM_001145118.2(GRID2IP):c.2548G>A (p.Gly850Arg)	GRID2IP (G659R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521794	NM_001145118.2(GRID2IP):c.2501G>A (p.Arg834Gln)	GRID2IP (R651Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623196	NM_001145118.2(GRID2IP):c.2447G>C (p.Arg816Pro)	GRID2IP (R816P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516904	NM_001145118.2(GRID2IP):c.2446C>T (p.Arg816Trp)	GRID2IP (R633W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483383	NM_001145118.2(GRID2IP):c.2434C>T (p.Pro812Ser)	GRID2IP (P629S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458665	NM_001145118.2(GRID2IP):c.2419G>A (p.Val807Met)	GRID2IP (V624M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518396	NM_001145118.2(GRID2IP):c.2402C>T (p.Pro801Leu)	GRID2IP (P610L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102376	NM_001145118.2(GRID2IP):c.2348C>T (p.Ala783Val)	GRID2IP (A600V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490232	NM_001145118.2(GRID2IP):c.2342C>G (p.Ala781Gly)	GRID2IP (A598G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610961	NM_001145118.2(GRID2IP):c.2333G>A (p.Arg778Gln)	GRID2IP (R587Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260565	NM_001145118.2(GRID2IP):c.2315G>A (p.Arg772His)	GRID2IP (R581H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657302	NM_001145118.2(GRID2IP):c.2271A>C (p.Pro757=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363713	NM_001145118.2(GRID2IP):c.2252C>G (p.Pro751Arg)	GRID2IP (P751R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297520	NM_001145118.2(GRID2IP):c.2242C>A (p.His748Asn)	GRID2IP (H557N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102375	NM_001145118.2(GRID2IP):c.2228C>G (p.Ser743Cys)	GRID2IP (S552C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339886	NM_001145118.2(GRID2IP):c.2198G>A (p.Ser733Asn)	GRID2IP (S542N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383575	NM_001145118.2(GRID2IP):c.2138A>G (p.His713Arg)	GRID2IP (H713R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657303	NM_001145118.2(GRID2IP):c.2115C>T (p.Asn705=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102374	NM_001145118.2(GRID2IP):c.2111A>T (p.Glu704Val)	GRID2IP (E513V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547243	NM_001145118.2(GRID2IP):c.2084C>G (p.Thr695Ser)	GRID2IP (T504S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228169	NM_001145118.2(GRID2IP):c.2077C>T (p.Arg693Trp)	GRID2IP (R693W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234525	NM_001145118.2(GRID2IP):c.2029C>T (p.Arg677Cys)	GRID2IP (R494C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387725	NM_001145118.2(GRID2IP):c.2017C>T (p.Pro673Ser)	GRID2IP (P490S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102372	NM_001145118.2(GRID2IP):c.2006C>T (p.Thr669Ile)	GRID2IP (T486I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220081	NM_001145118.2(GRID2IP):c.1997A>G (p.Lys666Arg)	GRID2IP (K475R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102370	NM_001145118.2(GRID2IP):c.1990C>G (p.Arg664Gly)	GRID2IP (R473G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102369	NM_001145118.2(GRID2IP):c.1982C>T (p.Pro661Leu)	GRID2IP (P470L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540247	NM_001145118.2(GRID2IP):c.1979G>A (p.Arg660His)	GRID2IP (R477H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204389	NM_001145118.2(GRID2IP):c.1973C>G (p.Pro658Arg)	GRID2IP (P475R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512034	NM_001145118.2(GRID2IP):c.1967C>T (p.Pro656Leu)	GRID2IP (P465L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102368	NM_001145118.2(GRID2IP):c.1951G>C (p.Asp651His)	GRID2IP (D460H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282410	NM_001145118.2(GRID2IP):c.1942A>C (p.Ile648Leu)	GRID2IP (I465L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328616	NM_001145118.2(GRID2IP):c.1894A>G (p.Ser632Gly)	GRID2IP (S449G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490141	NM_001145118.2(GRID2IP):c.1885C>A (p.Pro629Thr)	GRID2IP (P629T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102367	NM_001145118.2(GRID2IP):c.1872C>A (p.Ser624Arg)	GRID2IP (S433R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354771	NM_001145118.2(GRID2IP):c.1807G>A (p.Glu603Lys)	GRID2IP (E420K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589224	NM_001145118.2(GRID2IP):c.1685G>A (p.Arg562Gln)	GRID2IP (R379Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397068	NM_001145118.2(GRID2IP):c.1667A>C (p.Tyr556Ser)	GRID2IP (Y365S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312674	NM_001145118.2(GRID2IP):c.1644C>A (p.Asn548Lys)	GRID2IP (N357K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483923	NM_001145118.2(GRID2IP):c.1603C>T (p.Arg535Cys)	GRID2IP (R344C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223933	NM_001145118.2(GRID2IP):c.1564G>A (p.Glu522Lys)	GRID2IP (E522K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391003	NM_001145118.2(GRID2IP):c.1543G>A (p.Gly515Ser)	GRID2IP (G332S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217361	NM_001145118.2(GRID2IP):c.1540G>A (p.Ala514Thr)	GRID2IP (A331T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277362	NM_001145118.2(GRID2IP):c.1525T>C (p.Ser509Pro)	GRID2IP (S318P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615459	NM_001145118.2(GRID2IP):c.1514G>A (p.Arg505His)	GRID2IP (R314H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538422	NM_001145118.2(GRID2IP):c.1513C>T (p.Arg505Cys)	GRID2IP (R505C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780041	NM_001145118.2(GRID2IP):c.1510C>T (p.Arg504Cys)	GRID2IP (R504C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2465138	NM_001145118.2(GRID2IP):c.1481G>A (p.Arg494Gln)	GRID2IP (R303Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657304	NM_001145118.2(GRID2IP):c.1449G>A (p.Leu483=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102363	NM_001145118.2(GRID2IP):c.1412C>T (p.Thr471Met)	GRID2IP (T471M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350415	NM_001145118.2(GRID2IP):c.1393G>A (p.Ala465Thr)	GRID2IP (A465T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374644	NM_001145118.2(GRID2IP):c.1361A>G (p.Tyr454Cys)	GRID2IP (Y454C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102362	NM_001145118.2(GRID2IP):c.1288G>A (p.Val430Ile)	GRID2IP (V430I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236366	NM_001145118.2(GRID2IP):c.1276G>A (p.Asp426Asn)	GRID2IP (D243N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253222	NM_001145118.2(GRID2IP):c.1265A>G (p.His422Arg)	GRID2IP (H239R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466470	NM_001145118.2(GRID2IP):c.1249G>A (p.Glu417Lys)	GRID2IP (E227K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267569	NM_001145118.2(GRID2IP):c.1234G>C (p.Val412Leu)	GRID2IP (V222L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519620	NM_001145118.2(GRID2IP):c.1226G>A (p.Arg409His)	GRID2IP (R219H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730685	NM_001145118.2(GRID2IP):c.1200G>A (p.Leu400=)	GRID2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515971	NM_001145118.2(GRID2IP):c.1145C>T (p.Ala382Val)	GRID2IP (A192V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206194	NM_001145118.2(GRID2IP):c.1136A>G (p.Gln379Arg)	GRID2IP (Q189R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396753	NM_001145118.2(GRID2IP):c.1069G>A (p.Val357Ile)	GRID2IP (V167I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399108	NM_001145118.2(GRID2IP):c.946A>C (p.Lys316Gln)	GRID2IP (K126Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243788	NM_001145118.2(GRID2IP):c.856A>G (p.Asn286Asp)	GRID2IP (N103D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463569	NM_001145118.2(GRID2IP):c.815G>A (p.Gly272Asp)	GRID2IP, LOC129997946 (G272D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271972	NM_001145118.2(GRID2IP):c.814G>C (p.Gly272Arg)	GRID2IP, LOC129997946 (G82R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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