ClinVar for Gene (Select 5900) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	GTF3C5, HMCN2 +147 more	Duplication	not provided	GUncertain significance
Select item 3151319	NM_006266.4(RALGDS):c.790G>A (p.Val264Met)	RALGDS (V209M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151318	NM_006266.4(RALGDS):c.761T>C (p.Ile254Thr)	RALGDS (I254T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151317	NM_006266.4(RALGDS):c.515C>T (p.Ala172Val)	RALGDS (A171V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151316	NM_006266.4(RALGDS):c.508C>G (p.Leu170Val)	RALGDS (L169V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151315	NM_006266.4(RALGDS):c.44G>T (p.Gly15Val)	LOC130002888, RALGDS (G15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151314	NM_006266.4(RALGDS):c.2723A>G (p.Lys908Arg)	RALGDS (K853R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151313	NM_006266.4(RALGDS):c.2510A>G (p.Asn837Ser)	RALGDS (N808S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151312	NM_006266.4(RALGDS):c.2422G>C (p.Val808Leu)	LOC126860784, RALGDS (V807L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151311	NM_006266.4(RALGDS):c.2311G>A (p.Ala771Thr)	LOC126860784, RALGDS (A770T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151310	NM_006266.4(RALGDS):c.2245A>T (p.Thr749Ser)	LOC126860784, RALGDS (T737S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151309	NM_006266.4(RALGDS):c.2101G>A (p.Gly701Arg)	LOC126860784, RALGDS (G689R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151308	NM_006266.4(RALGDS):c.1364A>G (p.Lys455Arg)	RALGDS (K400R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151307	NM_006266.4(RALGDS):c.122A>G (p.Asp41Gly)	LOC130002888, RALGDS (D41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151306	NM_006266.4(RALGDS):c.1119C>G (p.Asn373Lys)	RALGDS (N344K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151305	NM_006266.4(RALGDS):c.1067C>T (p.Ala356Val)	RALGDS (A301V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659690	NM_006266.4(RALGDS):c.715C>T (p.Arg239Cys)	RALGDS (R184C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659689	NM_006266.4(RALGDS):c.1218G>A (p.Val406=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659688	NM_006266.4(RALGDS):c.2340A>G (p.Ser780=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623619	NM_006266.4(RALGDS):c.265G>A (p.Gly89Arg)	RALGDS (G72R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617798	NM_006266.4(RALGDS):c.1894C>T (p.Arg632Trp)	RALGDS (R631W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600458	NM_006266.4(RALGDS):c.2587A>G (p.Asn863Asp)	RALGDS (N851D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600367	NM_006266.4(RALGDS):c.2012G>A (p.Arg671His)	LOC126860784, RALGDS (R670H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562150	NM_006266.4(RALGDS):c.806C>T (p.Pro269Leu)	RALGDS (P268L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542447	NM_006266.4(RALGDS):c.53C>A (p.Pro18Gln)	LOC130002888, RALGDS (P18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538335	NM_006266.4(RALGDS):c.2732A>G (p.Lys911Arg)	RALGDS (K910R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534516	NM_006266.4(RALGDS):c.116T>G (p.Val39Gly)	LOC130002888, RALGDS (V39G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530087	NM_006266.4(RALGDS):c.872C>G (p.Pro291Arg)	RALGDS (P279R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525612	NM_006266.4(RALGDS):c.529G>A (p.Gly177Ser)	RALGDS (G122S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523708	NM_006266.4(RALGDS):c.2132C>T (p.Ser711Leu)	LOC126860784, RALGDS (S656L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510239	NM_006266.4(RALGDS):c.1985C>T (p.Thr662Ile)	RALGDS (T633I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490015	NM_006266.4(RALGDS):c.1753C>A (p.Leu585Met)	RALGDS (L556M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488432	NM_006266.4(RALGDS):c.289C>G (p.Leu97Val)	RALGDS (L42V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488414	NM_006266.4(RALGDS):c.391G>A (p.Ala131Thr)	RALGDS (A130T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478344	NM_006266.4(RALGDS):c.1798G>A (p.Glu600Lys)	RALGDS (E600K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478175	NM_006266.4(RALGDS):c.14T>C (p.Met5Thr)	LOC130002888, RALGDS (M5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468177	NM_006266.4(RALGDS):c.1120G>A (p.Gly374Arg)	RALGDS (G362R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466763	NM_006266.4(RALGDS):c.1529G>A (p.Arg510Gln)	RALGDS (R481Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454978	NM_006266.4(RALGDS):c.1852G>A (p.Ala618Thr)	RALGDS (A589T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454792	NM_006266.4(RALGDS):c.2110G>A (p.Ala704Thr)	LOC126860784, RALGDS (A649T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 2391001	NM_006266.4(RALGDS):c.1999C>T (p.Arg667Cys)	RALGDS (R638C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360996	NM_006266.4(RALGDS):c.947A>G (p.Gln316Arg)	RALGDS (Q287R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347747	NM_006266.4(RALGDS):c.553G>A (p.Glu185Lys)	RALGDS (E173K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341017	NM_006266.4(RALGDS):c.389C>T (p.Pro130Leu)	RALGDS (P129L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339834	NM_006266.4(RALGDS):c.518C>T (p.Ser173Phe)	RALGDS (S118F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332413	NM_006266.4(RALGDS):c.630G>T (p.Glu210Asp)	RALGDS (E155D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311215	NM_006266.4(RALGDS):c.2179G>A (p.Val727Ile)	LOC126860784, RALGDS (V715I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307759	NM_006266.4(RALGDS):c.1483C>T (p.His495Tyr)	RALGDS (H440Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279934	NM_006266.4(RALGDS):c.2681G>C (p.Gly894Ala)	RALGDS (G865A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279450	NM_006266.4(RALGDS):c.2680G>A (p.Gly894Arg)	RALGDS (G865R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262647	NM_006266.4(RALGDS):c.1652A>G (p.Gln551Arg)	RALGDS (Q550R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260768	NM_006266.4(RALGDS):c.826G>A (p.Ala276Thr)	RALGDS (A276T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240064	NM_001042368.3(RALGDS):c.16C>A (p.Gln6Lys)	RALGDS (Q6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232631	NM_006266.4(RALGDS):c.2711A>G (p.Gln904Arg)	RALGDS (Q849R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223985	NM_006266.4(RALGDS):c.2155G>A (p.Val719Met)	LOC126860784, RALGDS (V690M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 981879	NM_006266.4(RALGDS):c.1220C>T (p.Pro407Leu)	RALGDS (P352L +4 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	BRD3, CACFD1 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 815302	GRCh37/hg19 9q34.2(chr9:135920220-136139686)x1	ABO, CEL +4 more	Copy number loss	not provided	GUncertain significance
Select item 810460	NM_001042368.3(RALGDS):c.18+17915C>T	RALGDS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810459	NM_006266.4(RALGDS):c.1414-7G>A	RALGDS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810458	NM_006266.4(RALGDS):c.2472G>A (p.Lys824=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 789782	NM_006266.4(RALGDS):c.1947C>T (p.Ser649=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788557	NM_006266.4(RALGDS):c.753G>A (p.Ser251=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778384	NM_006266.4(RALGDS):c.1119C>T (p.Asn373=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778383	NM_006266.4(RALGDS):c.2526G>A (p.Glu842=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775280	NM_006266.4(RALGDS):c.2385G>A (p.Gln795=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770391	NM_006266.4(RALGDS):c.665A>G (p.Lys222Arg)	RALGDS (K167R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 763478	NM_006266.4(RALGDS):c.860C>G (p.Pro287Arg)	RALGDS (P232R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 753838	NM_006266.4(RALGDS):c.1281G>A (p.Ala427=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748334	NM_006266.4(RALGDS):c.1101A>T (p.Ser367=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747361	NM_006266.4(RALGDS):c.2595C>T (p.Asn865=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745052	NM_006266.4(RALGDS):c.493G>A (p.Gly165Ser)	RALGDS (G164S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 742367	NM_006266.4(RALGDS):c.2064C>T (p.Ser688=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741245	NM_006266.4(RALGDS):c.738C>G (p.Ala246=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739443	NM_006266.4(RALGDS):c.681C>T (p.Tyr227=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738285	NM_006266.4(RALGDS):c.1662G>A (p.Pro554=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735893	NM_006266.4(RALGDS):c.291C>T (p.Leu97=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734912	NM_006266.4(RALGDS):c.552C>T (p.Asp184=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733714	NM_006266.4(RALGDS):c.2679C>T (p.His893=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720676	NM_006266.4(RALGDS):c.398A>G (p.Gln133Arg)	RALGDS (Q132R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717972	NM_006266.4(RALGDS):c.252G>T (p.Val84=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717971	NM_006266.4(RALGDS):c.2136C>T (p.Ala712=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716199	NM_006266.4(RALGDS):c.1851C>T (p.Ile617=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713871	NM_006266.4(RALGDS):c.1485C>T (p.His495=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711898	NM_006266.4(RALGDS):c.2238C>T (p.Ser746=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709863	NM_006266.4(RALGDS):c.2154C>T (p.Asp718=)	LOC126860784, RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708382	NM_006266.4(RALGDS):c.1164T>C (p.Asp388=)	RALGDS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685002	GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3	AK8, CEL +5 more	Copy number gain	not provided	GUncertain significance
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 598639	NM_006266.4(RALGDS):c.1895G>A (p.Arg632Gln)	RALGDS (R632Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response

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