ClinVar for Gene (Select 25929) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391016	NM_015465.5(GEMIN5):c.625G>A (p.Glu209Lys)	GEMIN5 (E209K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3390793	NM_015465.5(GEMIN5):c.755G>C (p.Arg252Pro)	GEMIN5 (R251P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3388408	NM_015465.5(GEMIN5):c.987A>G (p.Glu329=)	GEMIN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3383566	NM_015465.5(GEMIN5):c.1995+1G>A	GEMIN5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3383358	NM_015465.5(GEMIN5):c.4263-1G>C	GEMIN5	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GLikely pathogenic
Select item 3383324	NM_015465.5(GEMIN5):c.628G>T (p.Asp210Tyr)	GEMIN5 (D210Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3383323	NM_015465.5(GEMIN5):c.1081-2A>G	GEMIN5	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GLikely pathogenic
Select item 3382816	NM_015465.5(GEMIN5):c.2705T>A (p.Leu902Gln)	GEMIN5 (L901Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3375749	NM_015465.5(GEMIN5):c.778C>T (p.Arg260Ter)	GEMIN5 (R259* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3372565	NM_015465.5(GEMIN5):c.3214G>A (p.Ala1072Thr)	GEMIN5 (A1071T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372564	NM_015465.5(GEMIN5):c.1718C>G (p.Thr573Ser)	GEMIN5 (T572S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371407	NM_015465.5(GEMIN5):c.4418A>T (p.His1473Leu)	GEMIN5 (H1472L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366982	NM_015465.5(GEMIN5):c.2662G>A (p.Glu888Lys)	GEMIN5 (E887K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3366063	NM_015465.5(GEMIN5):c.2681G>T (p.Gly894Val)	GEMIN5 (G893V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366062	NM_015465.5(GEMIN5):c.3166G>T (p.Ala1056Ser)	GEMIN5 (A1055S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363557	NM_015465.5(GEMIN5):c.614C>T (p.Pro205Leu)	GEMIN5 (P205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363556	NM_015465.5(GEMIN5):c.3013A>T (p.Arg1005Trp)	GEMIN5 (R1004W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362492	NM_015465.5(GEMIN5):c.76G>A (p.Gly26Ser)	GEMIN5 (G26S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3340264	NM_015465.5(GEMIN5):c.1856del (p.Glu619fs)	GEMIN5 (E618fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337143	NM_015465.5(GEMIN5):c.3071A>G (p.Asp1024Gly)	GEMIN5 (D1023G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337142	NM_015465.5(GEMIN5):c.4349A>G (p.Glu1450Gly)	GEMIN5 (E1449G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281212	NM_015465.5(GEMIN5):c.2275G>C (p.Asp759His)	GEMIN5 (D758H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281211	NM_015465.5(GEMIN5):c.2845C>G (p.Leu949Val)	GEMIN5 (L948V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281208	NM_015465.5(GEMIN5):c.1210A>T (p.Ile404Phe)	GEMIN5 (I403F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281207	NM_015465.5(GEMIN5):c.1586C>T (p.Thr529Ile)	GEMIN5 (T528I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281206	NM_015465.5(GEMIN5):c.452C>T (p.Pro151Leu)	GEMIN5 (P151L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281205	NM_015465.5(GEMIN5):c.1555G>A (p.Ala519Thr)	GEMIN5 (A518T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281204	NM_015465.5(GEMIN5):c.686A>C (p.Asn229Thr)	GEMIN5 (N228T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281203	NM_015465.5(GEMIN5):c.2735G>A (p.Gly912Asp)	GEMIN5 (G911D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281202	NM_015465.5(GEMIN5):c.130G>T (p.Gly44Cys)	GEMIN5 (G44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281201	NM_015465.5(GEMIN5):c.139G>C (p.Glu47Gln)	GEMIN5 (E47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281200	NM_015465.5(GEMIN5):c.1063A>G (p.Thr355Ala)	GEMIN5 (T355A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281199	NM_015465.5(GEMIN5):c.3469G>A (p.Val1157Met)	GEMIN5 (V1157M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3281198	NM_015465.5(GEMIN5):c.1273G>A (p.Val425Met)	GEMIN5 (V425M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281197	NM_015465.5(GEMIN5):c.2366C>G (p.Pro789Arg)	GEMIN5 (P788R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254990	NM_015465.5(GEMIN5):c.125G>A (p.Gly42Asp)	GEMIN5 (G42D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3235718	NM_015465.5(GEMIN5):c.262G>A (p.Asp88Asn)	GEMIN5 (D88N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233989	NM_015465.5(GEMIN5):c.2867-9T>G	GEMIN5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3233693	NM_015465.5(GEMIN5):c.3016G>A (p.Glu1006Lys)	GEMIN5 (E1005K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099392	NM_015465.5(GEMIN5):c.884A>G (p.Gln295Arg)	GEMIN5 (Q294R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099391	NM_015465.5(GEMIN5):c.784G>T (p.Val262Leu)	GEMIN5 (V262L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099390	NM_015465.5(GEMIN5):c.565C>A (p.His189Asn)	GEMIN5 (H189N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099389	NM_015465.5(GEMIN5):c.4431T>G (p.Cys1477Trp)	GEMIN5 (C1477W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099388	NM_015465.5(GEMIN5):c.4396G>A (p.Val1466Ile)	GEMIN5 (V1465I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3099387	NM_015465.5(GEMIN5):c.359G>A (p.Arg120Gln)	GEMIN5 (R120Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099386	NM_015465.5(GEMIN5):c.3449C>T (p.Thr1150Met)	GEMIN5 (T1150M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099384	NM_015465.5(GEMIN5):c.3340C>G (p.Leu1114Val)	GEMIN5 (L1113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099383	NM_015465.5(GEMIN5):c.29C>T (p.Pro10Leu)	GEMIN5 (P10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099382	NM_015465.5(GEMIN5):c.2710A>G (p.Arg904Gly)	GEMIN5 (R903G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099381	NM_015465.5(GEMIN5):c.2687T>A (p.Phe896Tyr)	GEMIN5 (F895Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099380	NM_015465.5(GEMIN5):c.2677C>A (p.Leu893Met)	GEMIN5 (L892M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099379	NM_015465.5(GEMIN5):c.25C>A (p.Pro9Thr)	GEMIN5 (P9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099378	NM_015465.5(GEMIN5):c.239A>T (p.Asn80Ile)	GEMIN5 (N80I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099377	NM_015465.5(GEMIN5):c.2180T>C (p.Ile727Thr)	GEMIN5 (I726T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099376	NM_015465.5(GEMIN5):c.2156G>A (p.Arg719Gln)	GEMIN5 (R718Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099375	NM_015465.5(GEMIN5):c.2115T>G (p.Phe705Leu)	GEMIN5 (F704L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099373	NM_015465.5(GEMIN5):c.2096A>G (p.Tyr699Cys)	GEMIN5 (Y698C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099372	NM_015465.5(GEMIN5):c.2080G>C (p.Asp694His)	GEMIN5 (D693H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099371	NM_015465.5(GEMIN5):c.1895A>G (p.Tyr632Cys)	GEMIN5 (Y631C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099369	NM_015465.5(GEMIN5):c.1817A>G (p.Asn606Ser)	GEMIN5 (N605S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099368	NM_015465.5(GEMIN5):c.1639G>T (p.Asp547Tyr)	GEMIN5 (D547Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099366	NM_015465.5(GEMIN5):c.1181C>T (p.Ser394Phe)	GEMIN5 (S393F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048972	NM_015465.5(GEMIN5):c.1135G>C (p.Gly379Arg)	GEMIN5 (G378R +1 more)	Single nucleotide variant (missense variant)	GEMIN5-related disorder	GUncertain significance
Select item 2689125	NM_015465.5(GEMIN5):c.4263-4C>G	GEMIN5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2685181	GRCh37/hg19 5q33.2(chr5:154312033-154394810)x1	GEMIN5, KIF4B +1 more	Copy number loss	not provided	GUncertain significance
Select item 2673035	NM_015465.5(GEMIN5):c.1230C>A (p.Leu410=)	GEMIN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664207	NM_015465.5(GEMIN5):c.3146C>G (p.Ala1049Gly)	GEMIN5 (A1048G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2655980	NM_015465.5(GEMIN5):c.1045A>T (p.Lys349Ter)	GEMIN5 (K348* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2655979	NM_015465.5(GEMIN5):c.1781C>G (p.Pro594Arg)	GEMIN5 (P593R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655978	NM_015465.5(GEMIN5):c.3308G>A (p.Gly1103Glu)	GEMIN5 (G1102E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655977	NM_015465.5(GEMIN5):c.4246A>C (p.Ser1416Arg)	GEMIN5 (S1415R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655976	NM_015465.5(GEMIN5):c.4428C>G (p.Gly1476=)	GEMIN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631551	NM_015465.5(GEMIN5):c.4100T>C (p.Leu1367Pro)	GEMIN5 (L1366P +1 more)	Single nucleotide variant (missense variant)	GEMIN5-related disorder	GLikely pathogenic
Select item 2630379	NM_015465.5(GEMIN5):c.3153_3160dup (p.Asp1054fs)	GEMIN5 (D1053fs +1 more)	Duplication (frameshift variant)	GEMIN5-related disorder	GLikely pathogenic
Select item 2627245	NM_015465.5(GEMIN5):c.1802C>T (p.Ala601Val)	GEMIN5 (A600V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619595	NM_015465.5(GEMIN5):c.2225A>G (p.Lys742Arg)	GEMIN5 (K741R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613158	NM_015465.5(GEMIN5):c.620C>T (p.Pro207Leu)	GEMIN5 (P207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605295	NM_015465.5(GEMIN5):c.343T>G (p.Leu115Val)	GEMIN5 (L115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604662	NM_015465.5(GEMIN5):c.1087T>C (p.Cys363Arg)	GEMIN5 (C363R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595903	NM_015465.5(GEMIN5):c.1556C>G (p.Ala519Gly)	GEMIN5 (A518G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595729	NM_015465.5(GEMIN5):c.4480G>A (p.Gly1494Ser)	GEMIN5 (G1494S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594400	NM_015465.5(GEMIN5):c.3110G>A (p.Gly1037Asp)	GEMIN5 (G1036D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584966	NM_015465.5(GEMIN5):c.1919C>T (p.Ala640Val)	GEMIN5 (A639V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2584965	NM_015465.5(GEMIN5):c.2883G>A (p.Trp961Ter)	GEMIN5 (W961* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GLikely pathogenic
Select item 2576908	NM_015465.5(GEMIN5):c.157C>T (p.Pro53Ser)	GEMIN5 (P53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576874	NM_015465.5(GEMIN5):c.4316C>T (p.Thr1439Ile)	GEMIN5 (T1438I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574422	NM_015465.5(GEMIN5):c.3337A>G (p.Ser1113Gly)	GEMIN5 (S1112G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2570464	NM_015465.5(GEMIN5):c.2342A>G (p.Glu781Gly)	GEMIN5 (E781G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564519	NM_015465.5(GEMIN5):c.1627A>G (p.Ser543Gly)	GEMIN5 (S542G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555441	NM_015465.5(GEMIN5):c.3347G>T (p.Gly1116Val)	GEMIN5 (G1115V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554190	NM_015465.5(GEMIN5):c.2676T>A (p.His892Gln)	GEMIN5 (H892Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553679	NM_015465.5(GEMIN5):c.2144A>G (p.Gln715Arg)	GEMIN5 (Q714R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549830	NM_015465.5(GEMIN5):c.2036G>A (p.Arg679Gln)	GEMIN5 (R679Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548427	NM_015465.5(GEMIN5):c.3032C>A (p.Ala1011Asp)	GEMIN5 (A1010D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546647	NM_015465.5(GEMIN5):c.772A>G (p.Arg258Gly)	GEMIN5 (R257G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546646	NM_015465.5(GEMIN5):c.4376A>C (p.Asp1459Ala)	GEMIN5 (D1458A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544842	NM_015465.5(GEMIN5):c.2341G>C (p.Glu781Gln)	GEMIN5 (E780Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530659	NM_015465.5(GEMIN5):c.1979A>G (p.Tyr660Cys)	GEMIN5 (Y660C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504791	NM_015465.5(GEMIN5):c.2647G>A (p.Val883Met)	GEMIN5 (V882M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504308	NM_015465.5(GEMIN5):c.32C>T (p.Ser11Phe)	GEMIN5 (S11F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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