ClinVar for Gene (Select 168537) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281397	NM_153236.4(GIMAP7):c.464G>A (p.Ser155Asn)	GIMAP7 (S155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281396	NM_153236.4(GIMAP7):c.63A>T (p.Lys21Asn)	GIMAP7 (K21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281395	NM_153236.4(GIMAP7):c.58G>T (p.Gly20Trp)	GIMAP7 (G20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281394	NM_153236.4(GIMAP7):c.862T>C (p.Trp288Arg)	GIMAP7 (W288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281393	NM_153236.4(GIMAP7):c.319G>A (p.Glu107Lys)	GIMAP7 (E107K)	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 3099826	NM_153236.4(GIMAP7):c.878C>T (p.Ser293Leu)	GIMAP7 (S293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099825	NM_153236.4(GIMAP7):c.738G>T (p.Lys246Asn)	GIMAP7 (K246N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099824	NM_153236.4(GIMAP7):c.646C>T (p.Arg216Trp)	GIMAP7 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099823	NM_153236.4(GIMAP7):c.50C>G (p.Thr17Ser)	GIMAP7 (T17S)	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 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 2568199	NM_153236.4(GIMAP7):c.167G>C (p.Gly56Ala)	GIMAP7 (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550732	NM_153236.4(GIMAP7):c.116C>T (p.Ala39Val)	GIMAP7 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540195	NM_153236.4(GIMAP7):c.240A>T (p.Glu80Asp)	GIMAP7 (E80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530826	NM_153236.4(GIMAP7):c.488G>A (p.Arg163His)	GIMAP7 (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519843	NM_153236.4(GIMAP7):c.286G>T (p.Val96Phe)	GIMAP7 (V96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487156	NM_153236.4(GIMAP7):c.20G>C (p.Arg7Pro)	GIMAP7 (R7P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481566	NM_153236.4(GIMAP7):c.465C>G (p.Ser155Arg)	GIMAP7 (S155R)	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 2381881	NM_153236.4(GIMAP7):c.809G>C (p.Arg270Thr)	GIMAP7 (R270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374080	NM_153236.4(GIMAP7):c.379A>G (p.Met127Val)	GIMAP7 (M127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351967	NM_153236.4(GIMAP7):c.529G>C (p.Glu177Gln)	GIMAP7 (E177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333630	NM_153236.4(GIMAP7):c.598T>G (p.Tyr200Asp)	GIMAP7 (Y200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331847	NM_153236.4(GIMAP7):c.193C>T (p.Pro65Ser)	GIMAP7 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331512	NM_153236.4(GIMAP7):c.149C>T (p.Ala50Val)	GIMAP7 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297690	NM_153236.4(GIMAP7):c.65G>A (p.Ser22Asn)	GIMAP7 (S22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295243	NM_153236.4(GIMAP7):c.281C>T (p.Ala94Val)	GIMAP7 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281976	NM_153236.4(GIMAP7):c.83T>A (p.Ile28Asn)	GIMAP7 (I28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281602	NM_153236.4(GIMAP7):c.357T>A (p.Phe119Leu)	GIMAP7 (F119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262444	NM_153236.4(GIMAP7):c.88G>C (p.Gly30Arg)	GIMAP7 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246636	NM_153236.4(GIMAP7):c.861A>G (p.Ile287Met)	GIMAP7 (I287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236659	NM_153236.4(GIMAP7):c.826G>A (p.Val276Ile)	GIMAP7 (V276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227571	NM_153236.4(GIMAP7):c.523A>G (p.Lys175Glu)	GIMAP7 (K175E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226827	NM_153236.4(GIMAP7):c.34G>A (p.Val12Ile)	GIMAP7 (V12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1294549	NM_153236.4(GIMAP7):c.247C>T (p.Arg83Cys)	GIMAP7 (R83C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 443272	GRCh37/hg19 7q36.1(chr7:150176945-150460105)x1	GIMAP1, GIMAP2 +4 more	Copy number loss	See cases	GUncertain significance
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
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic

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