ClinVar for Gene (Select 29899) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282546	NM_013296.5(GPSM2):c.1864A>G (p.Lys622Glu)	CLCC1, GPSM2 (K622E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3282545	NM_013296.5(GPSM2):c.204G>C (p.Leu68Phe)	GPSM2 (L68F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282543	NM_013296.5(GPSM2):c.904A>G (p.Ile302Val)	GPSM2 (I302V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102068	NM_013296.5(GPSM2):c.902C>G (p.Ala301Gly)	GPSM2 (A301G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102067	NM_013296.5(GPSM2):c.835G>A (p.Ala279Thr)	GPSM2 (A279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102066	NM_013296.5(GPSM2):c.1618G>T (p.Val540Leu)	GPSM2 (V540L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102065	NM_013296.5(GPSM2):c.1240C>A (p.Leu414Ile)	GPSM2 (L414I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065632	NM_013296.5(GPSM2):c.11A>T (p.Asn4Ile)	GPSM2 (N4I)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GLikely benign
Select item 3063332	GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3	CELSR2, CFAP276 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062933	GRCh37/hg19 1p13.3(chr1:109367168-109429175)x3	AKNAD1, GPSM2	Copy number gain	not specified	GUncertain significance
Select item 3054619	NM_013296.5(GPSM2):c.1821C>T (p.Ser607=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder	GLikely benign
Select item 3032032	NM_013296.5(GPSM2):c.414+2T>C	GPSM2	Single nucleotide variant (splice donor variant)	GPSM2-related disorder	GLikely pathogenic
Select item 3029986	NM_013296.5(GPSM2):c.1983G>C (p.Gly661=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder	GLikely benign
Select item 3023360	NM_013296.5(GPSM2):c.1263+19G>T	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990063	NM_013296.5(GPSM2):c.797+9A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988127	NM_013296.5(GPSM2):c.1815+15T>C	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981831	NM_013296.5(GPSM2):c.924C>T (p.His308=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972213	NM_013296.5(GPSM2):c.681+11A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965619	NM_013296.5(GPSM2):c.1404T>C (p.Ser468=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960886	NM_013296.5(GPSM2):c.279-12del	GPSM2	Deletion (intron variant)	not provided	GBenign
Select item 2799783	NM_013296.5(GPSM2):c.1263+19G>A	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778256	NM_013296.5(GPSM2):c.998dup (p.Ala334fs)	GPSM2 (A334fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2758643	NM_013296.5(GPSM2):c.681+2del	GPSM2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2742220	NM_013296.5(GPSM2):c.826A>C (p.Lys276Gln)	GPSM2 (K276Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690987	NM_013296.5(GPSM2):c.1600+3A>C	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 2674617	NM_013296.5(GPSM2):c.681+1G>A	GPSM2	Single nucleotide variant (splice donor variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 2663487	NM_013296.5(GPSM2):c.1504A>C (p.Asn502His)	GPSM2 (N502H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662245	NM_013296.5(GPSM2):c.455A>C (p.Tyr152Ser)	GPSM2 (Y152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607699	NM_013296.5(GPSM2):c.1017T>A (p.Asp339Glu)	GPSM2 (D339E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578100	NM_013296.5(GPSM2):c.622C>T (p.Leu208Phe)	GPSM2 (L208F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542676	NM_013296.5(GPSM2):c.2006A>C (p.Asn669Thr)	CLCC1, GPSM2 (N669T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2540473	NM_013296.5(GPSM2):c.130G>C (p.Val44Leu)	GPSM2 (V44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528775	NM_013296.5(GPSM2):c.424G>A (p.Ala142Thr)	GPSM2 (A142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507280	NM_013296.5(GPSM2):c.36T>C (p.His12=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2499928	NM_013296.5(GPSM2):c.238A>G (p.Lys80Glu)	GPSM2 (K80E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493209	NM_013296.5(GPSM2):c.1649T>A (p.Leu550His)	GPSM2 (L550H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479899	NM_013296.5(GPSM2):c.674A>C (p.His225Pro)	GPSM2 (H225P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475756	NM_013296.5(GPSM2):c.1240C>T (p.Leu414Phe)	GPSM2 (L414F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432254	NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs)	CLCC1, GPSM2 (R647fs)	Microsatellite (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423588	NC_000001.10:g.(?_109428145)_(109817590_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2386534	NM_013296.5(GPSM2):c.1712G>A (p.Gly571Glu)	GPSM2 (G571E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332187	NM_013296.5(GPSM2):c.1202C>T (p.Pro401Leu)	GPSM2 (P401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321991	NM_013296.5(GPSM2):c.1727A>T (p.Gln576Leu)	GPSM2 (Q576L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277579	NM_013296.5(GPSM2):c.1609G>A (p.Val537Ile)	GPSM2 (V537I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265708	NM_013296.5(GPSM2):c.1403G>A (p.Ser468Asn)	GPSM2 (S468N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229101	NM_013296.5(GPSM2):c.1574C>G (p.Ser525Cys)	GPSM2 (S525C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193210	NM_013296.5(GPSM2):c.1058G>A (p.Arg353Lys)	GPSM2 (R353K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177369	NM_013296.5(GPSM2):c.1815+7_1815+10dup	GPSM2	Duplication (intron variant)	not provided	GLikely benign
Select item 2173455	NM_013296.5(GPSM2):c.1717C>T (p.Arg573Cys)	GPSM2 (R573C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2094969	NM_013296.5(GPSM2):c.319A>G (p.Asn107Asp)	GPSM2 (N107D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090474	NM_013296.5(GPSM2):c.1421G>A (p.Arg474Gln)	GPSM2 (R474Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070145	NM_013296.5(GPSM2):c.1199G>A (p.Arg400His)	GPSM2 (R400H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002226	NM_013296.5(GPSM2):c.997A>G (p.Thr333Ala)	GPSM2 (T333A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998033	NM_013296.5(GPSM2):c.580G>T (p.Ala194Ser)	GPSM2 (A194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1955563	NM_013296.5(GPSM2):c.438C>T (p.Tyr146=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954138	NM_013296.5(GPSM2):c.797+10A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947672	NM_013296.5(GPSM2):c.558-9A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937214	NM_013296.5(GPSM2):c.257A>G (p.His86Arg)	GPSM2 (H86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933065	NM_013296.5(GPSM2):c.121C>T (p.Arg41Cys)	GPSM2 (R41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930748	NM_013296.5(GPSM2):c.1972_1973dup (p.Asp659fs)	CLCC1, GPSM2 (D659fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1918344	NM_013296.5(GPSM2):c.1062+15A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915965	NM_013296.5(GPSM2):c.1769A>G (p.Asn590Ser)	GPSM2 (N590S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914615	NM_013296.5(GPSM2):c.1626C>T (p.Pro542=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913870	NM_013296.5(GPSM2):c.1350G>A (p.Leu450=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901635	NM_013296.5(GPSM2):c.1460T>C (p.Ile487Thr)	GPSM2 (I487T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1800492	NM_013296.5(GPSM2):c.2041T>C (p.Ser681Pro)	CLCC1, GPSM2 (S681P)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1706692	NM_013296.5(GPSM2):c.952A>T (p.Arg318Ter)	GPSM2 (R318*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1697175	NM_013296.5(GPSM2):c.286G>A (p.Gly96Arg)	GPSM2 (G96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695705	NM_013296.5(GPSM2):c.1119G>A (p.Met373Ile)	GPSM2 (M373I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695437	NM_013296.5(GPSM2):c.1080_1081del (p.Glu361fs)	GPSM2 (E361fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1690702	NM_013296.5(GPSM2):c.2042C>T (p.Ser681Leu)	CLCC1, GPSM2 (S681L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1684586	NM_013296.5(GPSM2):c.1815+2T>C	GPSM2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1644106	NM_013296.5(GPSM2):c.953+18T>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631047	NM_013296.5(GPSM2):c.636T>C (p.His212=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621657	NM_013296.5(GPSM2):c.1600+10C>T	GPSM2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1578738	NM_013296.5(GPSM2):c.690T>G (p.Leu230=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574143	NM_013296.5(GPSM2):c.1575C>T (p.Ser525=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564923	NM_013296.5(GPSM2):c.459T>C (p.His153=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551639	NM_013296.5(GPSM2):c.1600+12C>T	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546842	NM_013296.5(GPSM2):c.1062+17A>C	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527259	GRCh37/hg19 1p13.3(chr1:109404523-109455803)	GPSM2	Copy number loss	not specified	GUncertain significance
Select item 1527248	GRCh37/hg19 1p13.3(chr1:109396970-109807574)	AKNAD1, CELSR2 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1502261	NM_013296.5(GPSM2):c.844G>T (p.Ala282Ser)	GPSM2 (A282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490221	NM_013296.5(GPSM2):c.1094G>T (p.Arg365Leu)	GPSM2 (R365L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476133	NM_013296.5(GPSM2):c.1094G>A (p.Arg365Gln)	GPSM2 (R365Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472245	NM_013296.5(GPSM2):c.1870C>T (p.Pro624Ser)	CLCC1, GPSM2 (P624S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1436298	NM_013296.5(GPSM2):c.1669C>T (p.Arg557Cys)	GPSM2 (R557C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431275	NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys)	GPSM2 (E120K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1427753	NM_013296.5(GPSM2):c.1217G>A (p.Arg406Gln)	GPSM2 (R406Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1416542	NM_013296.5(GPSM2):c.1062+3A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1402146	NM_013296.5(GPSM2):c.50G>A (p.Arg17His)	GPSM2 (R17H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371012	NM_013296.5(GPSM2):c.1501A>G (p.Ser501Gly)	GPSM2 (S501G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365343	NM_013296.5(GPSM2):c.1718G>A (p.Arg573His)	GPSM2 (R573H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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