ClinVar for Gene (Select 474344) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281392	NM_024711.6(GIMAP6):c.470A>G (p.His157Arg)	GIMAP6 (H157R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3281391	NM_024711.6(GIMAP6):c.136A>T (p.Met46Leu)	GIMAP6 (M46L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281390	NM_024711.6(GIMAP6):c.61G>T (p.Asp21Tyr)	GIMAP6 (D21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245702	NC_000007.13:g.(?_150324807)_(150706375_?)dup	AOC1, GIMAP1 +7 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3245694	NC_000007.13:g.(?_150324807)_(150706375_?)del	AOC1, GIMAP1 +7 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3099822	NM_024711.6(GIMAP6):c.626A>G (p.Glu209Gly)	GIMAP6 (E279G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099820	NM_024711.6(GIMAP6):c.592G>A (p.Gly198Ser)	GIMAP6 (G198S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3099819	NM_024711.6(GIMAP6):c.349G>A (p.Val117Ile)	GIMAP6 (V187I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099818	NM_024711.6(GIMAP6):c.302C>A (p.Ser101Tyr)	GIMAP6 (S101Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099817	NM_024711.6(GIMAP6):c.251G>C (p.Arg84Pro)	GIMAP6 (R154P +1 more)	Single nucleotide variant (missense variant +1 more)	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 2688170	NM_024711.6(GIMAP6):c.861G>A (p.Leu287=)	GIMAP6	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 2688132	NM_024711.6(GIMAP6):c.511G>A (p.Gly171Ser)	GIMAP6 (G171S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
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 2551106	NM_024711.6(GIMAP6):c.410A>T (p.Asp137Val)	GIMAP6 (D137V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2550408	NM_024711.6(GIMAP6):c.113C>A (p.Pro38Gln)	GIMAP6 (P108Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513872	NM_024711.6(GIMAP6):c.373G>A (p.Ala125Thr)	GIMAP6 (R50H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511826	NM_024711.6(GIMAP6):c.543C>G (p.Asn181Lys)	GIMAP6 (N251K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2510520	NM_024711.6(GIMAP6):c.331G>A (p.Ala111Thr)	GIMAP6 (A111T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483712	NM_024711.6(GIMAP6):c.416A>G (p.Asp139Gly)	GIMAP6 (D139G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2483129	NM_024711.6(GIMAP6):c.634C>A (p.Leu212Met)	GIMAP6 (L212M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472052	NM_024711.6(GIMAP6):c.584G>A (p.Arg195His)	GIMAP6 (R195H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2457184	NM_024711.6(GIMAP6):c.854G>A (p.Cys285Tyr)	GIMAP6 (C355Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454328	NM_024711.6(GIMAP6):c.242G>A (p.Arg81Lys)	GIMAP6 (R151K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2404814	NM_024711.6(GIMAP6):c.730C>T (p.Arg244Trp)	GIMAP6 (R314W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372049	NM_024711.6(GIMAP6):c.542A>G (p.Asn181Ser)	GIMAP6 (N181S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2361516	NM_024711.6(GIMAP6):c.157A>G (p.Lys53Glu)	GIMAP6 (K53E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350433	NM_024711.6(GIMAP6):c.51G>T (p.Glu17Asp)	GIMAP6 (E17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339477	NM_024711.6(GIMAP6):c.875T>C (p.Leu292Pro)	GIMAP6 (L292P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2312772	NM_024711.6(GIMAP6):c.491G>A (p.Arg164Gln)	GIMAP6 (R164Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2242673	NM_024711.6(GIMAP6):c.389C>T (p.Thr130Ile)	GIMAP6 (T130I +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2217396	NM_024711.6(GIMAP6):c.490C>T (p.Arg164Trp)	GIMAP6 (R164W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214901	NM_024711.6(GIMAP6):c.199G>A (p.Glu67Lys)	GIMAP6 (E137K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207813	NM_024711.6(GIMAP6):c.368C>T (p.Pro123Leu)	GIMAP6 (P123L +1 more)	Single nucleotide variant (synonymous variant +1 more)	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 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 929485	NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter)	GIMAP6 (W156* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary Immune Deficiency	GLikely pathogenic
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 776270	NM_024711.6(GIMAP6):c.308A>G (p.Gln103Arg)	GIMAP6 (Q103R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776269	NM_024711.6(GIMAP6):c.710A>G (p.Gln237Arg)	GIMAP6 (Q237R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 716359	NM_024711.6(GIMAP6):c.193G>A (p.Val65Ile)	GIMAP6 (V135I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714358	NM_024711.6(GIMAP6):c.768C>A (p.Gly256=)	GIMAP6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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

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