CTDP1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1242329	NC_000018.10:g.79679756G>A	CTDP1	Single nucleotide variant	not provided	GBenign
Select item 1226092	NM_004715.5(CTDP1):c.-104G>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1707384	NM_004715.5(CTDP1):c.-49G>C	CTDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1209235	NM_004715.5(CTDP1):c.-34C>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3057683	NM_004715.5(CTDP1):c.-5C>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	CTDP1-related disorder	GLikely benign
Select item 2103747	NM_004715.5(CTDP1):c.6G>T (p.Glu2Asp)	CTDP1 (E2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896566	NM_004715.5(CTDP1):c.6G>A (p.Glu2=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051125	NM_004715.5(CTDP1):c.14C>T (p.Ala5Val)	CTDP1 (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567843	NM_004715.5(CTDP1):c.14C>A (p.Ala5Asp)	CTDP1 (A5D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2868462	NM_004715.5(CTDP1):c.27T>G (p.Val9=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504142	NM_004715.5(CTDP1):c.28C>T (p.Pro10Ser)	CTDP1 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683461	NM_004715.5(CTDP1):c.34G>C (p.Glu12Gln)	CTDP1 (E12Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133093	NM_004715.5(CTDP1):c.42C>T (p.Ala14=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521381	NM_004715.5(CTDP1):c.43C>T (p.Pro15Ser)	CTDP1 (P15S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2808429	NM_004715.5(CTDP1):c.45G>A (p.Pro15=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102006	NM_004715.5(CTDP1):c.46A>C (p.Thr16Pro)	CTDP1 (T16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057363	NM_004715.5(CTDP1):c.48G>A (p.Thr16=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087296	NM_004715.5(CTDP1):c.51G>A (p.Ala17=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095390	NM_004715.5(CTDP1):c.58G>T (p.Ala20Ser)	CTDP1 (A20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081160	NM_004715.5(CTDP1):c.58G>A (p.Ala20Thr)	CTDP1 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719208	NM_004715.5(CTDP1):c.60C>T (p.Ala20=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525483	NM_004715.5(CTDP1):c.71G>T (p.Cys24Phe)	CTDP1 (C24F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2003770	NM_004715.5(CTDP1):c.73C>T (p.Pro25Ser)	CTDP1 (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373323	NM_004715.5(CTDP1):c.77G>A (p.Gly26Glu)	CTDP1 (G26E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732570	NM_004715.5(CTDP1):c.78G>C (p.Gly26=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103722	NM_004715.5(CTDP1):c.81C>G (p.Pro27=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006590	NM_004715.5(CTDP1):c.92G>T (p.Arg31Leu)	CTDP1 (R31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827059	NM_004715.5(CTDP1):c.93C>T (p.Arg31=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003685	NM_004715.5(CTDP1):c.94C>T (p.Leu32=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072358	NM_004715.5(CTDP1):c.96G>C (p.Leu32=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021807	NM_004715.5(CTDP1):c.102G>A (p.Glu34=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996644	NM_004715.5(CTDP1):c.102G>T (p.Glu34Asp)	CTDP1 (E34D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340324	NM_004715.5(CTDP1):c.107G>C (p.Arg36Thr)	CTDP1 (R36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316992	NM_004715.5(CTDP1):c.113C>T (p.Ala38Val)	CTDP1 (A38V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2779246	NM_004715.5(CTDP1):c.135C>T (p.Ile45=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173452	NM_004715.5(CTDP1):c.136G>A (p.Gly46Ser)	CTDP1 (G46S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190360	NM_004715.5(CTDP1):c.150C>A (p.Ala50=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500035	NM_004715.5(CTDP1):c.150C>G (p.Ala50=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1669505	NM_004715.5(CTDP1):c.153G>C (p.Val51=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3078589	NM_004715.5(CTDP1):c.156C>G (p.Phe52Leu)	CTDP1 (F52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1939034	NM_004715.5(CTDP1):c.156C>T (p.Phe52=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043969	NM_004715.5(CTDP1):c.160G>T (p.Ala54Ser)	CTDP1 (A54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007126	NM_004715.5(CTDP1):c.165C>T (p.Ala55=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119522	NM_004715.5(CTDP1):c.166G>A (p.Ala56Thr)	CTDP1 (A56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701344	NM_004715.5(CTDP1):c.168C>G (p.Ala56=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163615	NM_004715.5(CTDP1):c.170C>G (p.Ser57Cys)	CTDP1 (S57C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187909	NM_004715.5(CTDP1):c.172G>T (p.Ala58Ser)	CTDP1 (A58S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2115470	NM_004715.5(CTDP1):c.175C>G (p.Gln59Glu)	CTDP1 (Q59E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193292	NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala)	CTDP1 (S61A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1977160	NM_004715.5(CTDP1):c.184G>A (p.Gly62Arg)	CTDP1 (G62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111676	NM_004715.5(CTDP1):c.185G>A (p.Gly62Glu)	CTDP1 (G62E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972294	NM_004715.5(CTDP1):c.186G>A (p.Gly62=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193290	NM_004715.5(CTDP1):c.186G>C (p.Gly62=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2111273	NM_004715.5(CTDP1):c.187G>T (p.Ala63Ser)	CTDP1 (A63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868350	NM_004715.5(CTDP1):c.190T>C (p.Ser64Pro)	CTDP1 (S64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2210529	NM_004715.5(CTDP1):c.206C>T (p.Ala69Val)	CTDP1 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1351920	NM_004715.5(CTDP1):c.206C>A (p.Ala69Asp)	CTDP1 (A69D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991056	NM_004715.5(CTDP1):c.207C>A (p.Ala69=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878395	NM_004715.5(CTDP1):c.210C>T (p.Ser70=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095700	NM_004715.5(CTDP1):c.212G>A (p.Gly71Glu)	CTDP1 (G71E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023427	NM_004715.5(CTDP1):c.213G>A (p.Gly71=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193291	NM_004715.5(CTDP1):c.213G>C (p.Gly71=)	CTDP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2019921	NM_004715.5(CTDP1):c.215G>A (p.Gly72Asp)	CTDP1 (G72D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1495701	NM_004715.5(CTDP1):c.220G>C (p.Val74Leu)	CTDP1 (V74L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977112	NM_004715.5(CTDP1):c.223C>T (p.Arg75Cys)	CTDP1 (R75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084777	NM_004715.5(CTDP1):c.225C>T (p.Arg75=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1978169	NM_004715.5(CTDP1):c.227C>G (p.Pro76Arg)	CTDP1 (P76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323010	NM_004715.5(CTDP1):c.229G>A (p.Ala77Thr)	CTDP1 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323011	NM_004715.5(CTDP1):c.230C>T (p.Ala77Val)	CTDP1 (A77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1380101	NM_004715.5(CTDP1):c.232C>T (p.Arg78Trp)	CTDP1 (R78W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179177	NM_004715.5(CTDP1):c.234G>T (p.Arg78=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350526	NM_004715.5(CTDP1):c.235C>T (p.Pro79Ser)	CTDP1 (P79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085451	NM_004715.5(CTDP1):c.236C>T (p.Pro79Leu)	CTDP1 (P79L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879438	NM_004715.5(CTDP1):c.246G>A (p.Arg82=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185203	NM_004715.5(CTDP1):c.254C>T (p.Ser85Leu)	CTDP1 (S85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708195	NM_004715.5(CTDP1):c.255G>T (p.Ser85=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887265	NM_004715.5(CTDP1):c.258G>A (p.Glu86=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194882	NM_004715.5(CTDP1):c.268G>A (p.Val90Met)	CTDP1 (V90M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190301	NM_004715.5(CTDP1):c.275G>A (p.Arg92Gln)	CTDP1 (R92Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057409	NM_004715.5(CTDP1):c.276G>A (p.Arg92=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111969	NM_004715.5(CTDP1):c.277G>C (p.Glu93Gln)	CTDP1 (E93Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419854	NM_004715.5(CTDP1):c.280C>T (p.Leu94=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186052	NM_004715.5(CTDP1):c.280C>A (p.Leu94Met)	CTDP1 (L94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114864	NM_004715.5(CTDP1):c.285C>T (p.Cys95=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163616	NM_004715.5(CTDP1):c.285C>A (p.Cys95Ter)	CTDP1 (C95*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3078594	NM_004715.5(CTDP1):c.293C>T (p.Pro98Leu)	CTDP1 (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710137	NM_004715.5(CTDP1):c.294G>A (p.Pro98=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2010410	NM_004715.5(CTDP1):c.299A>G (p.Gln100Arg)	CTDP1 (Q100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978482	NM_004715.5(CTDP1):c.309C>T (p.Ala103=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715360	NM_004715.5(CTDP1):c.314+12G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706905	NM_004715.5(CTDP1):c.314+14G>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090443	NM_004715.5(CTDP1):c.314+20C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225439	NM_004715.5(CTDP1):c.314+100C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1711455	NM_004715.5(CTDP1):c.314+7111G>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181006	NM_004715.5(CTDP1):c.315-245G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178380	NM_004715.5(CTDP1):c.315-225G>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233749	NM_004715.5(CTDP1):c.315-109G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2874017	NM_004715.5(CTDP1):c.315-16T>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833754	NM_004715.5(CTDP1):c.315-12G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107766	NM_004715.5(CTDP1):c.315-5dup	CTDP1	Duplication (intron variant)	not provided	GBenign

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