CTU2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035852	NM_001012759.3(CTU2):c.-3C>G	CTU2	Single nucleotide variant (5 prime UTR variant)	CTU2-related disorder	GLikely benign
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 2190088	NM_001012759.3(CTU2):c.22T>A (p.Tyr8Asn)	CTU2 (Y8N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1529311	NM_001012759.3(CTU2):c.25G>A (p.Gly9Arg)	CTU2 (G9R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1668718	NM_001012759.3(CTU2):c.36G>A (p.Ala12=)	CTU2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2210404	NM_001012759.3(CTU2):c.49C>G (p.Pro17Ala)	CTU2 (P17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3004110	NM_001012759.3(CTU2):c.68+12C>T	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020373	NM_001012759.3(CTU2):c.68+20C>G	CTU2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600007	NM_001012759.3(CTU2):c.69-19C>T	CTU2	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +1 more	GBenign/Likely benign
Select item 1253335	NM_001012759.3(CTU2):c.69-16C>A	CTU2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 2906481	NM_001012759.3(CTU2):c.74A>C (p.Glu25Ala)	CTU2 (E25A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 2321721	NM_001012759.3(CTU2):c.86T>C (p.Val29Ala)	CTU2 (V29A)	Single nucleotide variant (missense variant +1 more)	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 2063448	NM_001012759.3(CTU2):c.119T>A (p.Ile40Lys)	CTU2 (I40K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2063449	NM_001012759.3(CTU2):c.121C>G (p.Arg41Gly)	CTU2 (R41G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 1509109	NM_001012759.3(CTU2):c.143+3G>T	CTU2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1921261	NM_001012759.3(CTU2):c.143+18C>A	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135711	NM_001012759.3(CTU2):c.187C>G (p.Leu63Val)	CTU2 (L63V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 635410	NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro)	CTU2 (L63P)	Single nucleotide variant (missense variant +1 more)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +2 more	GConflicting classifications of pathogenicity
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 2215590	NM_001012759.3(CTU2):c.199C>T (p.Arg67Trp)	CTU2 (R67W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1448262	NM_001012759.3(CTU2):c.200G>A (p.Arg67Gln)	CTU2 (R67Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2801921	NM_001012759.3(CTU2):c.222+12G>C	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3055992	NM_001012759.3(CTU2):c.223-7C>T	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder	GLikely benign
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 1313642	NM_001012759.3(CTU2):c.241G>C (p.Gly81Arg)	CTU2 (G81R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1206603	NM_001012759.3(CTU2):c.242G>C (p.Gly81Ala)	CTU2 (G81A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2258449	NM_001012759.3(CTU2):c.247C>A (p.Pro83Thr)	CTU2 (P83T)	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 1949261	NM_001012759.3(CTU2):c.252G>T (p.Ser84=)	CTU2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 637954	NM_001012759.3(CTU2):c.282+5G>A	CTU2	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GPathogenic
Select item 1609191	NM_001012759.3(CTU2):c.282+18C>T	CTU2	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +1 more	GBenign/Likely benign
Select item 1897811	NM_001012759.3(CTU2):c.282+19G>A	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947994	NM_001012759.3(CTU2):c.284G>A (p.Gly95Asp)	CTU2 (G95D +1 more)	Single nucleotide variant (missense variant)	not provided	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 786641	NM_001012759.3(CTU2):c.322G>C (p.Ala108Pro)	CTU2 (A21P +1 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign
Select item 1518888	NM_001012759.3(CTU2):c.342C>T (p.Asp114=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3035550	NM_001012759.3(CTU2):c.344-122C>T	CTU2	Single nucleotide variant (synonymous variant +1 more)	CTU2-related disorder	GBenign
Select item 1255417	NM_001012759.3(CTU2):c.344-67G>A	CTU2 (V164M)	Single nucleotide variant (missense variant +1 more)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GBenign
Select item 780315	NM_001012759.3(CTU2):c.353C>T (p.Ala118Val)	CTU2 (A189V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1050146	NM_001012759.3(CTU2):c.377G>C (p.Arg126Thr)	CTU2 (R126T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029156	NM_001012759.3(CTU2):c.387C>G (p.Thr129=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 3047297	NM_001012759.3(CTU2):c.393C>T (p.Ala131=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 736305	NM_001012759.3(CTU2):c.404C>G (p.Pro135Arg)	CTU2 (P135R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2053471	NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu)	CTU2 (F213L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1305419	NM_001012759.3(CTU2):c.453+1G>A	CTU2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3050224	NM_001012759.3(CTU2):c.454-6C>T	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder	GLikely benign
Select item 1600539	NM_001012759.3(CTU2):c.456G>C (p.Val152=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2055160	NM_001012759.3(CTU2):c.474G>A (p.Ser158=)	CTU2	Single nucleotide variant (synonymous variant)	not provided +1 more	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 786948	NM_001012759.3(CTU2):c.501G>A (p.Leu167=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222014	NM_001012759.3(CTU2):c.515G>A (p.Gly172Glu)	CTU2 (G172E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770637	NM_001012759.3(CTU2):c.522C>T (p.Tyr174=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder +1 more	GBenign
Select item 2175732	NM_001012759.3(CTU2):c.528G>C (p.Ala176=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1647044	NM_001012759.3(CTU2):c.556C>T (p.His186Tyr)	CTU2 (H186Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2131644	NM_001012759.3(CTU2):c.564G>T (p.Leu188=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082661	NM_001012759.3(CTU2):c.570C>T (p.Ala190=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1540302	NM_001012759.3(CTU2):c.573G>A (p.Gly191=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2073326	NM_001012759.3(CTU2):c.607C>T (p.Pro203Ser)	CTU2 (P203S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521874	NM_001012759.3(CTU2):c.611C>T (p.Pro204Leu)	CTU2 (P117L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 732089	NM_001012759.3(CTU2):c.612C>G (p.Pro204=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563718	NM_001012759.3(CTU2):c.616C>G (p.Pro206Ala)	CTU2 (P119A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2260442	NM_001012759.3(CTU2):c.635A>G (p.Asn212Ser)	CTU2 (N212S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3003207	NM_001012759.3(CTU2):c.648G>A (p.Pro216=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2303683	NM_001012759.3(CTU2):c.656C>G (p.Pro219Arg)	CTU2 (P219R +2 more)	Single nucleotide variant (missense variant)	not specified	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
Select item 2706990	NM_001012759.3(CTU2):c.684G>C (p.Leu228=)	CTU2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1379388	NM_001012759.3(CTU2):c.710C>T (p.Ala237Val)	CTU2 (A150V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2316483	NM_001012759.3(CTU2):c.713A>G (p.Lys238Arg)	CTU2 (K238R +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 3049500	NM_001012759.3(CTU2):c.736C>A (p.Arg246=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 2413800	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCCCTCATGCCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 2172111	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 1973155	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 1595852	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 1430299	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 799101	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 1615132	NM_001012759.3(CTU2):c.737+7C>A	CTU2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768804	NM_001012759.3(CTU2):c.737+10_737+52del	CTU2	Deletion (intron variant)	not provided	GBenign
Select item 769424	NM_001012759.3(CTU2):c.737+9_737+10insTGAGAG	CTU2	Insertion (intron variant)	not provided	GLikely benign
Select item 2174876	NM_001012759.3(CTU2):c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC	CTU2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2024619	NM_001012759.3(CTU2):c.737+20_737+21insTTCCCCGGGCCCTGACCCCCCCTCATGCCCCTGAGAGCCCCC	CTU2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 775377	NM_001012759.3(CTU2):c.737+10C>T	CTU2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573134	NM_001012759.3(CTU2):c.737+21_737+63del	CTU2	Deletion (intron variant)	not provided	GBenign

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