ClinVar for Gene (Select 155038) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338203	NM_175571.4(GIMAP8):c.1953_1954del (p.Gln652fs)	GIMAP8, LOC126860223 (Q652fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3281400	NM_175571.4(GIMAP8):c.1115A>G (p.Gln372Arg)	GIMAP8 (Q372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281399	NM_175571.4(GIMAP8):c.58C>T (p.Arg20Cys)	GIMAP8 (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281398	NM_175571.4(GIMAP8):c.55T>C (p.Cys19Arg)	GIMAP8 (C19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3099842	NM_175571.4(GIMAP8):c.932A>C (p.Asn311Thr)	GIMAP8 (N311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099841	NM_175571.4(GIMAP8):c.855C>G (p.Ser285Arg)	GIMAP8 (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099840	NM_175571.4(GIMAP8):c.769G>A (p.Gly257Ser)	GIMAP8 (G257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099839	NM_175571.4(GIMAP8):c.767G>A (p.Arg256His)	GIMAP8 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099838	NM_175571.4(GIMAP8):c.701T>C (p.Leu234Pro)	GIMAP8 (L234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099837	NM_175571.4(GIMAP8):c.64G>C (p.Gly22Arg)	GIMAP8 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099836	NM_175571.4(GIMAP8):c.560G>T (p.Arg187Leu)	GIMAP8 (R187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099835	NM_175571.4(GIMAP8):c.507C>A (p.Asn169Lys)	GIMAP8 (N169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099834	NM_175571.4(GIMAP8):c.367G>A (p.Ala123Thr)	GIMAP8 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099833	NM_175571.4(GIMAP8):c.25T>C (p.Ser9Pro)	GIMAP8 (S9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099832	NM_175571.4(GIMAP8):c.1886G>C (p.Gly629Ala)	GIMAP8, LOC126860223 (G629A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099831	NM_175571.4(GIMAP8):c.1865A>G (p.Asn622Ser)	GIMAP8, LOC126860223 (N622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099830	NM_175571.4(GIMAP8):c.1838A>G (p.Gln613Arg)	GIMAP8, LOC126860223 (Q613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099829	NM_175571.4(GIMAP8):c.1826C>T (p.Ala609Val)	GIMAP8, LOC126860223 (A609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099828	NM_175571.4(GIMAP8):c.1774A>G (p.Lys592Glu)	GIMAP8, LOC126860223 (K592E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658158	NM_175571.4(GIMAP8):c.403C>A (p.Arg135=)	GIMAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608660	NM_175571.4(GIMAP8):c.647A>G (p.Asn216Ser)	GIMAP8 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607612	NM_175571.4(GIMAP8):c.1772T>C (p.Phe591Ser)	GIMAP8, LOC126860223 (F591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605446	NM_175571.4(GIMAP8):c.152G>C (p.Arg51Thr)	GIMAP8 (R51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596250	NM_175571.4(GIMAP8):c.374C>T (p.Ala125Val)	GIMAP8 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592521	NM_175571.4(GIMAP8):c.1762C>T (p.Arg588Trp)	GIMAP8, LOC126860223 (R588W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590578	NM_175571.4(GIMAP8):c.1802T>C (p.Phe601Ser)	GIMAP8, LOC126860223 (F601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2556750	NM_175571.4(GIMAP8):c.1980A>T (p.Leu660Phe)	GIMAP8, LOC126860223 (L660F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515946	NM_175571.4(GIMAP8):c.1765C>T (p.Arg589Cys)	GIMAP8, LOC126860223 (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508987	NM_175571.4(GIMAP8):c.1763G>A (p.Arg588Gln)	GIMAP8, LOC126860223 (R588Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464828	NM_175571.4(GIMAP8):c.1892C>T (p.Ser631Phe)	GIMAP8, LOC126860223 (S631F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454300	NM_175571.4(GIMAP8):c.1372A>G (p.Ile458Val)	GIMAP8, LOC126860223 (I458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2402453	NM_175571.4(GIMAP8):c.1637C>G (p.Ala546Gly)	GIMAP8, LOC126860223 (A546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401483	NM_175571.4(GIMAP8):c.1964A>T (p.Lys655Ile)	GIMAP8, LOC126860223 (K655I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378855	NM_175571.4(GIMAP8):c.218T>C (p.Ile73Thr)	GIMAP8 (I73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376736	NM_175571.4(GIMAP8):c.266T>G (p.Leu89Arg)	GIMAP8 (L89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373286	NM_175571.4(GIMAP8):c.1510G>A (p.Glu504Lys)	GIMAP8, LOC126860223 (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369544	NM_175571.4(GIMAP8):c.589G>A (p.Gly197Arg)	GIMAP8 (G197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353292	NM_175571.4(GIMAP8):c.1127C>T (p.Thr376Met)	GIMAP8 (T376M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351920	NM_175571.4(GIMAP8):c.1399C>T (p.Arg467Trp)	GIMAP8, LOC126860223 (R467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347335	NM_175571.4(GIMAP8):c.439T>C (p.Phe147Leu)	GIMAP8 (F147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340332	NM_175571.4(GIMAP8):c.737C>T (p.Ser246Leu)	GIMAP8 (S246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326605	NM_175571.4(GIMAP8):c.343A>G (p.Lys115Glu)	GIMAP8 (K115E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319349	NM_175571.4(GIMAP8):c.146G>T (p.Cys49Phe)	GIMAP8 (C49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302021	NM_175571.4(GIMAP8):c.650A>G (p.Glu217Gly)	GIMAP8 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298406	NM_175571.4(GIMAP8):c.614A>G (p.Lys205Arg)	GIMAP8 (K205R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281033	NM_175571.4(GIMAP8):c.274C>G (p.Pro92Ala)	GIMAP8 (P92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274018	NM_175571.4(GIMAP8):c.1065C>A (p.Phe355Leu)	GIMAP8 (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265631	NM_175571.4(GIMAP8):c.586A>G (p.Asn196Asp)	GIMAP8 (N196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263079	NM_175571.4(GIMAP8):c.1798G>A (p.Ala600Thr)	GIMAP8, LOC126860223 (A600T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262251	NM_175571.4(GIMAP8):c.1607G>A (p.Arg536Gln)	GIMAP8, LOC126860223 (R536Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252061	NM_175571.4(GIMAP8):c.946G>A (p.Val316Ile)	GIMAP8 (V316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221194	NM_175571.4(GIMAP8):c.718G>A (p.Glu240Lys)	GIMAP8 (E240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205164	NM_175571.4(GIMAP8):c.1381A>C (p.Ser461Arg)	GIMAP8, LOC126860223 (S461R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808990	GRCh37/hg19 7q36.1(chr7:150018908-150591382)x1	ACTR3C, AOC1 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1808587	GRCh37/hg19 7q36.1(chr7:150121524-150338528)x1	GIMAP4, GIMAP6 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527412	GRCh37/hg19 7q36.1(chr7:150109825-150700159)	AOC1, GIMAP1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	ABCB8, AOC1 +17 more	Deletion	Long QT syndrome	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688885	GRCh37/hg19 7q36.1(chr7:149964361-150163624)x3	ACTR3C, GIMAP8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686901	GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3	AOC1, GIMAP1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	ABCB8, ABCF2 +63 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic

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