ClinVar for Gene (Select 348180) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078899	NM_001012759.3(CTU2):c.991G>T (p.Ala331Ser)	CTU2 (A244S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078898	NM_001012759.3(CTU2):c.986C>T (p.Thr329Ile)	CTU2 (T242I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078897	NM_001012759.3(CTU2):c.977C>T (p.Ser326Phe)	CTU2 (S239F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078896	NM_001012759.3(CTU2):c.920T>C (p.Met307Thr)	CTU2 (M378T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078895	NM_001012759.3(CTU2):c.808C>T (p.Arg270Cys)	CTU2 (R270C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078894	NM_001012759.3(CTU2):c.781A>C (p.Lys261Gln)	CTU2 (K174Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078893	NM_001012759.3(CTU2):c.731C>G (p.Thr244Ser)	CTU2 (T157S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078892	NM_001012759.3(CTU2):c.730A>G (p.Thr244Ala)	CTU2 (T157A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078891	NM_001012759.3(CTU2):c.728A>G (p.Gln243Arg)	CTU2 (Q156R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078890	NM_001012759.3(CTU2):c.647C>T (p.Pro216Leu)	CTU2 (P216L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078889	NM_001012759.3(CTU2):c.590C>A (p.Thr197Asn)	CTU2 (T197N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078888	NM_001012759.3(CTU2):c.198C>G (p.Asn66Lys)	CTU2 (N66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078887	NM_001012759.3(CTU2):c.1507T>C (p.Cys503Arg)	CTU2 (C416R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078884	NM_001012759.3(CTU2):c.1399C>G (p.Arg467Gly)	CTU2 (R380G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078883	NM_001012759.3(CTU2):c.1322C>A (p.Ala441Asp)	CTU2 (A354D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078881	NM_001012759.3(CTU2):c.1310G>C (p.Gly437Ala)	CTU2 (G350A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078880	NM_001012759.3(CTU2):c.1031G>A (p.Arg344Gln)	CTU2 (R415Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064952	NM_001012759.3(CTU2):c.837G>A (p.Leu279=)	CTU2	Single nucleotide variant (synonymous variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GUncertain significance
Select item 3063445	GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	CTU2, CYBA +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3058462	NM_001012759.3(CTU2):c.894C>T (p.His298=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related condition	GLikely benign
Select item 3055992	NM_001012759.3(CTU2):c.223-7C>T	CTU2	Single nucleotide variant (intron variant)	CTU2-related condition	GLikely benign
Select item 3050224	NM_001012759.3(CTU2):c.454-6C>T	CTU2	Single nucleotide variant (intron variant)	CTU2-related condition	GLikely benign
Select item 3049500	NM_001012759.3(CTU2):c.736C>A (p.Arg246=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related condition	GLikely benign
Select item 3048485	NM_001012759.3(CTU2):c.1226A>C (p.Gln409Pro)	CTU2 (Q322P +2 more)	Single nucleotide variant (missense variant)	CTU2-related condition	GLikely benign
Select item 3047297	NM_001012759.3(CTU2):c.393C>T (p.Ala131=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related condition	GLikely benign
Select item 3045905	NM_001012759.3(CTU2):c.1353-4G>A	CTU2	Single nucleotide variant (intron variant)	CTU2-related condition	GLikely benign
Select item 3045805	NM_001012759.3(CTU2):c.1201+7_1201+8del	CTU2	Microsatellite (intron variant)	CTU2-related condition	GLikely benign
Select item 3045763	NM_001012759.3(CTU2):c.1183C>T (p.Leu395=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related condition	GLikely benign
Select item 3036001	NM_001012759.3(CTU2):c.1525G>A (p.Asp509Asn)	CTU2 (D422N +2 more)	Single nucleotide variant (missense variant +1 more)	CTU2-related condition	GUncertain significance
Select item 3035852	NM_001012759.3(CTU2):c.-3C>G	CTU2	Single nucleotide variant (5 prime UTR variant)	CTU2-related condition	GLikely benign
Select item 3035550	NM_001012759.3(CTU2):c.344-122C>T	CTU2	Single nucleotide variant (synonymous variant +1 more)	CTU2-related condition	GBenign
Select item 3029192	NM_001012759.3(CTU2):c.1202-8G>A	CTU2	Single nucleotide variant (intron variant)	CTU2-related condition	GLikely benign
Select item 3029156	NM_001012759.3(CTU2):c.387C>G (p.Thr129=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related condition	GLikely benign
Select item 3025658	NM_001012759.3(CTU2):c.1527C>T (p.Asp509=)	CTU2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 3020373	NM_001012759.3(CTU2):c.68+20C>G	CTU2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3004110	NM_001012759.3(CTU2):c.68+12C>T	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003207	NM_001012759.3(CTU2):c.648G>A (p.Pro216=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906481	NM_001012759.3(CTU2):c.74A>C (p.Glu25Ala)	CTU2 (E25A)	Single nucleotide variant (missense variant +1 more)	CTU2-related condition +1 more	GBenign
Select item 2894226	NM_001012759.3(CTU2):c.772G>A (p.Gly258Ser)	CTU2 (G171S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818508	NM_001012759.3(CTU2):c.738-10T>C	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801921	NM_001012759.3(CTU2):c.222+12G>C	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778160	NM_001012759.3(CTU2):c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGACCCCCC	CTU2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2734909	NM_001012759.3(CTU2):c.1191C>T (p.Val397=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2706990	NM_001012759.3(CTU2):c.684G>C (p.Leu228=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685589	GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2672660	NM_001012759.3(CTU2):c.874-5C>T	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662915	NM_001012759.3(CTU2):c.1345T>G (p.Cys449Gly)	CTU2 (C362G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646983	NM_001012759.3(CTU2):c.720G>A (p.Glu240=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623768	NM_001012759.3(CTU2):c.925G>C (p.Asp309His)	CTU2 (D222H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623584	NM_001012759.3(CTU2):c.1176G>T (p.Met392Ile)	CTU2 (M392I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618545	NM_001012759.3(CTU2):c.889C>T (p.Arg297Trp)	CTU2 (R210W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617442	NM_001012759.3(CTU2):c.233C>T (p.Ala78Val)	CTU2 (A78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602862	NM_001012759.3(CTU2):c.251C>T (p.Ser84Leu)	CTU2 (S84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601798	NM_001012759.3(CTU2):c.763C>G (p.Arg255Gly)	CTU2 (R326G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594859	NM_001012759.3(CTU2):c.1235C>T (p.Ser412Leu)	CTU2 (S483L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574783	NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs)	CTU2, PIEZO1 (I418fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2560284	NM_001012759.3(CTU2):c.712A>G (p.Lys238Glu)	CTU2 (K238E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560283	NM_001012759.3(CTU2):c.1395C>G (p.Ser465Arg)	CTU2 (S378R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556856	NM_001012759.3(CTU2):c.655C>T (p.Pro219Ser)	CTU2 (P219S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546028	NM_001012759.3(CTU2):c.305A>G (p.Lys102Arg)	CTU2 (K15R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504860	NM_001012759.3(CTU2):c.124G>A (p.Ala42Thr)	CTU2 (A42T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2499790	NM_001012759.3(CTU2):c.1432C>A (p.Pro478Thr)	CTU2, PIEZO1 (P391T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499783	NM_001012759.3(CTU2):c.731C>T (p.Thr244Ile)	CTU2 (T157I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496075	NM_001012759.3(CTU2):c.848G>T (p.Arg283Leu)	CTU2 (R283L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486828	NM_001012759.3(CTU2):c.10G>A (p.Val4Met)	CTU2 (V4M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483758	NM_001012759.3(CTU2):c.470C>G (p.Pro157Arg)	CTU2 (P228R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480148	NM_001012759.3(CTU2):c.799A>G (p.Ser267Gly)	CTU2 (S338G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477044	NM_001012759.3(CTU2):c.77A>G (p.Gln26Arg)	CTU2 (Q26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474397	NM_001012759.3(CTU2):c.1523G>C (p.Ser508Thr)	CTU2 (S579T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473745	NM_001012759.3(CTU2):c.1231T>G (p.Ser411Ala)	CTU2 (S324A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467532	NM_001012759.3(CTU2):c.707C>A (p.Thr236Asn)	CTU2 (T149N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460670	NM_001012759.3(CTU2):c.1160G>A (p.Arg387His)	CTU2 (R387H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2440613	NM_001012759.3(CTU2):c.550C>T (p.Gln184Ter)	CTU2 (Q184* +2 more)	Single nucleotide variant (nonsense)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2421387	NM_001012759.3(CTU2):c.887A>C (p.Glu296Ala)	CTU2 (E209A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418320	NM_001012759.3(CTU2):c.550C>G (p.Gln184Glu)	CTU2 (Q184E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413800	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCCCTCATGCCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 2405967	NM_001012759.3(CTU2):c.483G>C (p.Trp161Cys)	CTU2 (W232C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403103	NM_001012759.3(CTU2):c.839C>T (p.Ala280Val)	CTU2 (A193V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399532	NM_001012759.3(CTU2):c.878T>A (p.Phe293Tyr)	CTU2 (F206Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397667	NM_001012759.3(CTU2):c.70C>T (p.Arg24Cys)	CTU2 (R24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392055	NM_001012759.3(CTU2):c.1400G>A (p.Arg467His)	CTU2 (R380H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385382	NM_001012759.3(CTU2):c.1333G>A (p.Gly445Ser)	CTU2 (G358S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369716	NM_001012759.3(CTU2):c.1468C>T (p.Arg490Cys)	CTU2 (R403C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2369087	NM_001012759.3(CTU2):c.989C>T (p.Pro330Leu)	CTU2 (P330L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369086	NM_001012759.3(CTU2):c.257G>A (p.Ser86Asn)	CTU2 (S86N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360204	NM_001012759.3(CTU2):c.1271C>T (p.Thr424Ile)	CTU2 (T337I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357324	NM_001012759.3(CTU2):c.1492C>G (p.Gln498Glu)	CTU2 (A478G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346470	NM_001012759.3(CTU2):c.958C>T (p.Arg320Cys)	CTU2 (R233C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345114	NM_001012759.3(CTU2):c.109G>C (p.Val37Leu)	CTU2 (V37L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338682	NM_001012759.3(CTU2):c.1172G>C (p.Cys391Ser)	CTU2 (C304S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336041	NM_001012759.3(CTU2):c.1359C>G (p.Asp453Glu)	CTU2 (D524E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325961	NM_001012759.3(CTU2):c.1251G>A (p.Met417Ile)	CTU2 (M330I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323424	NM_001012759.3(CTU2):c.682C>A (p.Leu228Met)	CTU2 (L141M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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