Related gene-specific medical variations for Gene (Select 100130890) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331595	NM_001346022.3(USP45):c.496A>T (p.Met166Leu)	TSTD3, USP45 (M165L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331594	NM_001346022.3(USP45):c.1172A>G (p.Lys391Arg)	TSTD3, USP45 (K31R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331593	NM_001346022.3(USP45):c.863A>G (p.Asp288Gly)	TSTD3, USP45 (D288G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3331592	NM_001346022.3(USP45):c.1769T>C (p.Leu590Ser)	TSTD3, USP45 (L589S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3264538	NM_005190.4(CCNC):c.272T>G (p.Val91Gly)	CCNC, TSTD3 (V91G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264537	NM_005190.4(CCNC):c.73C>T (p.Arg25Cys)	CCNC, TSTD3 (R25C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3187697	NM_001346022.3(USP45):c.983C>T (p.Thr328Ile)	TSTD3, USP45 (T328I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3187696	NM_001346022.3(USP45):c.424G>A (p.Val142Ile)	TSTD3, USP45 (V142I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187695	NM_001346022.3(USP45):c.2380G>T (p.Val794Leu)	TSTD3, USP45 (V735L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187694	NM_001346022.3(USP45):c.2311C>T (p.Pro771Ser)	TSTD3, USP45 (P713S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187693	NM_001346022.3(USP45):c.2282C>T (p.Ser761Leu)	TSTD3, USP45 (S703L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3187692	NM_001346022.3(USP45):c.2090G>T (p.Arg697Leu)	TSTD3, USP45 (R639L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187691	NM_001346022.3(USP45):c.1504G>C (p.Asp502His)	TSTD3, USP45 (D142H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187690	NM_001346022.3(USP45):c.1268A>C (p.Gln423Pro)	TSTD3, USP45 (Q422P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187689	NM_001346022.3(USP45):c.1024A>G (p.Lys342Glu)	TSTD3, USP45 (K341E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139895	NM_005190.4(CCNC):c.766A>C (p.Lys256Gln)	CCNC, TSTD3 (K171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139894	NM_005190.4(CCNC):c.627G>T (p.Gln209His)	CCNC, TSTD3 (Q209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139893	NM_005190.4(CCNC):c.365A>T (p.Tyr122Phe)	CCNC, TSTD3 (Y37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139892	NM_005190.4(CCNC):c.343G>A (p.Val115Ile)	CCNC, TSTD3 (V30I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139891	NM_005190.4(CCNC):c.226T>G (p.Tyr76Asp)	CCNC, TSTD3 (Y76D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139890	NM_005190.4(CCNC):c.218A>G (p.Tyr73Cys)	CCNC, TSTD3 (Y73C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2443297	NM_001346022.3(USP45):c.1548G>T (p.Gln516His)	TSTD3, USP45 (Q156H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443296	NM_001346022.3(USP45):c.1327C>T (p.Arg443Ter)	TSTD3, USP45 (R384* +4 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2438495	NM_001346022.3(USP45):c.377+5G>A	TSTD3, USP45	Single nucleotide variant (intron variant)	Leber congenital amaurosis 19	GUncertain significance
Select item 2238024	NM_005190.4(CCNC):c.754A>G (p.Thr252Ala)	CCNC, TSTD3 (T167A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684203	NM_001346022.3(USP45):c.199A>G (p.Lys67Glu)	TSTD3, USP45 (K66E +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 19	GBenign
Select item 1684202	NM_001346022.3(USP45):c.378-9C>T	TSTD3, USP45	Single nucleotide variant (intron variant)	Leber congenital amaurosis 19	GBenign
Select item 1684201	NM_001346022.3(USP45):c.1309-26_1309-22del	USP45, TSTD3	Microsatellite (intron variant)	Leber congenital amaurosis 19	GBenign
Select item 1684200	NM_001346022.3(USP45):c.1562G>C (p.Arg521Thr)	TSTD3, USP45 (R161T +4 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 19	GBenign
Select item 1684199	NM_001346022.3(USP45):c.1710A>G (p.Gly570=)	TSTD3, USP45	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 19	GBenign
Select item 1684198	NM_001346022.3(USP45):c.2333A>G (p.Asn778Ser)	TSTD3, USP45 (N418S +4 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 19	GBenign
Select item 1338683	NM_001346022.3(USP45):c.1709_1710delinsAG (p.Gly570Glu)	TSTD3, USP45 (G210E +4 more)	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 1338662	NM_001346022.3(USP45):c.570_571del (p.Gly191fs)	TSTD3, USP45 (G190fs +1 more)	Microsatellite (frameshift variant +2 more)	not specified	GUncertain significance
Select item 1338205	NM_001346022.3(USP45):c.562T>G (p.Ser188Ala)	TSTD3, USP45 (S187A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1338134	NM_001346022.3(USP45):c.2098A>C (p.Asn700His)	TSTD3, USP45 (N340H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336779	NM_001346022.3(USP45):c.625G>A (p.Ala209Thr)	TSTD3, USP45 (A208T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1336026	NM_001346022.3(USP45):c.1196A>G (p.Asn399Ser)	TSTD3, USP45 (N340S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805963	NM_005190.4(CCNC):c.346+77dup	CCNC, TSTD3	Duplication (intron variant)	CIC-rearranged sarcoma	Gnot provided
Select item 638073	NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter)	TSTD3, USP45 (K546* +4 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 19	GUncertain significance
Select item 638072	NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)	TSTD3, USP45 (R312Q +1 more)	Single nucleotide variant (missense variant +3 more)	Leber congenital amaurosis 19	GPathogenic
Select item 599557	NM_001346022.3(USP45):c.178T>G (p.Ser60Ala)	TSTD3, USP45 (S60A +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599556	NM_001346022.3(USP45):c.727G>A (p.Val243Met)	TSTD3, USP45 (V243M +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 599555	NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter)	TSTD3, USP45 (G664* +4 more)	Single nucleotide variant (nonsense +1 more)	Short stature	GPathogenic
Select item 599554	NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly)	TSTD3, USP45 (S523G +4 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic

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Links from Gene

Items: 44