GPRIN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 3102016	NM_052899.3(GPRIN1):c.2981T>C (p.Val994Ala)	GPRIN1 (V994A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102015	NM_052899.3(GPRIN1):c.2979T>G (p.Ser993Arg)	GPRIN1 (S993R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102014	NM_052899.3(GPRIN1):c.2977A>T (p.Ser993Cys)	GPRIN1 (S993C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614970	NM_052899.3(GPRIN1):c.2920G>A (p.Ala974Thr)	GPRIN1, LOC129995348 (A974T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350649	NM_052899.3(GPRIN1):c.2717C>T (p.Pro906Leu)	GPRIN1 (P906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485016	NM_052899.3(GPRIN1):c.2710C>A (p.Pro904Thr)	GPRIN1 (P904T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315458	NM_052899.3(GPRIN1):c.2699C>T (p.Ala900Val)	GPRIN1 (A900V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282507	NM_052899.3(GPRIN1):c.2687C>A (p.Ala896Glu)	GPRIN1 (A896E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282512	NM_052899.3(GPRIN1):c.2671G>A (p.Val891Met)	GPRIN1 (V891M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270655	NM_052899.3(GPRIN1):c.2639C>T (p.Ala880Val)	GPRIN1, LOC129995349 (A880V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228396	NM_052899.3(GPRIN1):c.2626A>G (p.Met876Val)	GPRIN1, LOC129995349 (M876V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387967	NM_052899.3(GPRIN1):c.2603C>A (p.Thr868Lys)	GPRIN1, LOC129995349 (T868K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656094	NM_052899.3(GPRIN1):c.2595C>T (p.Ala865=)	GPRIN1, LOC129995349	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324350	NM_052899.3(GPRIN1):c.2591G>A (p.Gly864Asp)	GPRIN1, LOC129995349 (G864D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405538	NM_052899.3(GPRIN1):c.2569G>A (p.Ala857Thr)	GPRIN1 (A857T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522528	NM_052899.3(GPRIN1):c.2507G>A (p.Gly836Glu)	GPRIN1 (G836E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208069	NM_052899.3(GPRIN1):c.2500G>A (p.Gly834Ser)	GPRIN1 (G834S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343082	NM_052899.3(GPRIN1):c.2464G>A (p.Val822Ile)	GPRIN1 (V822I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231683	NM_052899.3(GPRIN1):c.2435C>T (p.Ala812Val)	GPRIN1 (A812V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326818	NM_052899.3(GPRIN1):c.2433C>G (p.Asp811Glu)	GPRIN1 (D811E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102013	NM_052899.3(GPRIN1):c.2393C>T (p.Pro798Leu)	GPRIN1 (P798L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282510	NM_052899.3(GPRIN1):c.2389G>A (p.Ala797Thr)	GPRIN1 (A797T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345152	NM_052899.3(GPRIN1):c.2333G>A (p.Cys778Tyr)	GPRIN1 (C778Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590999	NM_052899.3(GPRIN1):c.2320G>A (p.Glu774Lys)	GPRIN1 (E774K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613077	NM_052899.3(GPRIN1):c.2287C>T (p.Leu763Phe)	GPRIN1 (L763F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250036	NM_052899.3(GPRIN1):c.2273C>T (p.Thr758Ile)	GPRIN1 (T758I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298117	NM_052899.3(GPRIN1):c.2245G>C (p.Glu749Gln)	GPRIN1 (E749Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102012	NM_052899.3(GPRIN1):c.2207G>A (p.Arg736Gln)	GPRIN1 (R736Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517579	NM_052899.3(GPRIN1):c.2197G>A (p.Gly733Ser)	GPRIN1 (G733S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589018	NM_052899.3(GPRIN1):c.2121G>T (p.Leu707Phe)	GPRIN1 (L707F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459852	NM_052899.3(GPRIN1):c.2111C>T (p.Ser704Phe)	GPRIN1 (S704F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282514	NM_052899.3(GPRIN1):c.2080G>A (p.Ala694Thr)	GPRIN1 (A694T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102011	NM_052899.3(GPRIN1):c.1996G>C (p.Ala666Pro)	GPRIN1 (A666P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475966	NM_052899.3(GPRIN1):c.1928C>G (p.Pro643Arg)	GPRIN1 (P643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487734	NM_052899.3(GPRIN1):c.1864G>T (p.Ala622Ser)	GPRIN1 (A622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297692	NM_052899.3(GPRIN1):c.1766A>G (p.Lys589Arg)	GPRIN1 (K589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102010	NM_052899.3(GPRIN1):c.1759T>G (p.Ser587Ala)	GPRIN1 (S587A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282504	NM_052899.3(GPRIN1):c.1751C>T (p.Pro584Leu)	GPRIN1 (P584L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362797	NM_052899.3(GPRIN1):c.1688C>G (p.Pro563Arg)	GPRIN1 (P563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560572	NM_052899.3(GPRIN1):c.1673A>G (p.Lys558Arg)	GPRIN1 (K558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456748	NM_052899.3(GPRIN1):c.1633C>T (p.Pro545Ser)	GPRIN1 (P545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208070	NM_052899.3(GPRIN1):c.1604C>G (p.Ala535Gly)	GPRIN1 (A535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282515	NM_052899.3(GPRIN1):c.1405G>C (p.Ala469Pro)	GPRIN1 (A469P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214913	NM_052899.3(GPRIN1):c.1373C>T (p.Pro458Leu)	GPRIN1 (P458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344698	NM_052899.3(GPRIN1):c.1366G>C (p.Glu456Gln)	GPRIN1 (E456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259460	NM_052899.3(GPRIN1):c.1348A>G (p.Thr450Ala)	GPRIN1 (T450A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370234	NM_052899.3(GPRIN1):c.1325G>A (p.Arg442His)	GPRIN1 (R442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402288	NM_052899.3(GPRIN1):c.1324C>T (p.Arg442Cys)	GPRIN1 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102008	NM_052899.3(GPRIN1):c.1300C>T (p.Leu434Phe)	GPRIN1 (L434F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491943	NM_052899.3(GPRIN1):c.1280T>C (p.Met427Thr)	GPRIN1 (M427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553355	NM_052899.3(GPRIN1):c.1183A>T (p.Thr395Ser)	GPRIN1 (T395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456887	NM_052899.3(GPRIN1):c.1136C>A (p.Pro379His)	GPRIN1 (P379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335112	NM_052899.3(GPRIN1):c.1114C>G (p.Arg372Gly)	GPRIN1 (R372G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278010	NM_052899.3(GPRIN1):c.1114C>T (p.Arg372Trp)	GPRIN1 (R372W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282506	NM_052899.3(GPRIN1):c.1066G>A (p.Ala356Thr)	GPRIN1 (A356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102007	NM_052899.3(GPRIN1):c.1026G>T (p.Leu342Phe)	GPRIN1 (L342F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282508	NM_052899.3(GPRIN1):c.986A>G (p.Asn329Ser)	GPRIN1 (N329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242899	NM_052899.3(GPRIN1):c.944C>T (p.Pro315Leu)	GPRIN1 (P315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102021	NM_052899.3(GPRIN1):c.931G>A (p.Gly311Arg)	GPRIN1 (G311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282511	NM_052899.3(GPRIN1):c.880T>C (p.Ser294Pro)	GPRIN1 (S294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458227	NM_052899.3(GPRIN1):c.857C>T (p.Ser286Leu)	GPRIN1 (S286L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102020	NM_052899.3(GPRIN1):c.845A>C (p.Asp282Ala)	GPRIN1 (D282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317891	NM_052899.3(GPRIN1):c.844G>C (p.Asp282His)	GPRIN1 (D282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383403	NM_052899.3(GPRIN1):c.796C>T (p.His266Tyr)	GPRIN1 (H266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102019	NM_052899.3(GPRIN1):c.754G>A (p.Val252Ile)	GPRIN1 (V252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296863	NM_052899.3(GPRIN1):c.730G>A (p.Val244Met)	GPRIN1 (V244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227120	NM_052899.3(GPRIN1):c.702_714del (p.Asp234fs)	GPRIN1 (D234fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 768051	NM_052899.3(GPRIN1):c.690_700del (p.Arg231fs)	GPRIN1 (R231fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3102018	NM_052899.3(GPRIN1):c.689C>T (p.Pro230Leu)	GPRIN1 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466421	NM_052899.3(GPRIN1):c.677A>T (p.Tyr226Phe)	GPRIN1 (Y226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102017	NM_052899.3(GPRIN1):c.674C>T (p.Thr225Met)	GPRIN1 (T225M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272487	NM_052899.3(GPRIN1):c.627A>C (p.Glu209Asp)	GPRIN1 (E209D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558449	NM_052899.3(GPRIN1):c.616G>A (p.Val206Ile)	GPRIN1 (V206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246687	NM_052899.3(GPRIN1):c.589G>T (p.Ala197Ser)	GPRIN1 (A197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510158	NM_052899.3(GPRIN1):c.521C>T (p.Ser174Leu)	GPRIN1 (S174L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529872	NM_052899.3(GPRIN1):c.499G>A (p.Gly167Arg)	GPRIN1 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282509	NM_052899.3(GPRIN1):c.470C>T (p.Ser157Phe)	GPRIN1 (S157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356851	NM_052899.3(GPRIN1):c.463T>A (p.Phe155Ile)	GPRIN1 (F155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282513	NM_052899.3(GPRIN1):c.391C>T (p.Pro131Ser)	GPRIN1 (P131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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