"GeneDx"[submitter] AND "CTDP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 60035	GRCh38/hg38 18q23(chr18:75843868-80209986)x1	ADNP2, ATP9B +154 more	Copy number loss	See cases	GPathogenic
Select item 152854	GRCh38/hg38 18q23(chr18:75875505-80252090)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 60037	GRCh38/hg38 18q23(chr18:78892487-80209986)x1	ADNP2, ATP9B +71 more	Copy number loss	See cases	GPathogenic
Select item 58328	GRCh38/hg38 18q23(chr18:79475881-79766196)x1	LOC126862832, LOC129456126 +11 more	Copy number loss	See cases	GUncertain significance
Select item 1278218	NC_000018.10:g.79679532T>C	CTDP1, CTDP1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1249937	NC_000018.10:g.79679637G>T	CTDP1, CTDP1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
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 193292	NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala)	CTDP1 (S61A)	Single nucleotide variant (missense variant)	Congenital cataracts-facial dysmorphism-neuropathy syndrome +2 more	GBenign
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 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 1225439	NM_004715.5(CTDP1):c.314+100C>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 1271578	NM_004715.5(CTDP1):c.317C>T (p.Ala106Val)	CTDP1 (A106V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292628	NM_004715.5(CTDP1):c.398+210C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287988	NM_004715.5(CTDP1):c.398+269C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234294	NM_004715.5(CTDP1):c.399-287C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243010	NM_004715.5(CTDP1):c.399-106C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392399	NM_004715.5(CTDP1):c.440C>T (p.Thr147Met)	CTDP1 (T147M +1 more)	Single nucleotide variant (missense variant)	Congenital cataracts-facial dysmorphism-neuropathy syndrome +2 more	GUncertain significance
Select item 777336	NM_004715.5(CTDP1):c.492+7C>T	CTDP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1223294	NM_004715.5(CTDP1):c.492+91G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237320	NM_004715.5(CTDP1):c.492+102A>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293301	NM_004715.5(CTDP1):c.492+153G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191431	NM_004715.5(CTDP1):c.492+220_492+221del	CTDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1292643	NM_004715.5(CTDP1):c.492+228G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333067	NM_004715.5(CTDP1):c.493-194G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706899	NM_004715.5(CTDP1):c.493-129G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196071	NM_004715.5(CTDP1):c.621+17T>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1240988	NM_004715.5(CTDP1):c.621+49T>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263131	NM_004715.5(CTDP1):c.621+184T>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273088	NM_004715.5(CTDP1):c.622-273T>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244334	NM_004715.5(CTDP1):c.622-132C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190657	NM_004715.5(CTDP1):c.622-52G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777337	NM_004715.5(CTDP1):c.729C>T (p.His243=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1222228	NM_004715.5(CTDP1):c.772+114A>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202858	NM_004715.5(CTDP1):c.772+145G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225602	NM_004715.5(CTDP1):c.772+276G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329577	NM_004715.5(CTDP1):c.772+290A>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292512	NM_004715.5(CTDP1):c.773-224A>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215521	NM_004715.5(CTDP1):c.773-87T>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205328	NM_004715.5(CTDP1):c.773-43C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730963	NM_004715.5(CTDP1):c.786C>T (p.Pro262=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1292998	NM_004715.5(CTDP1):c.863+15G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196368	NM_004715.5(CTDP1):c.863+35G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342104	NM_004715.5(CTDP1):c.863+146G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221565	NM_004715.5(CTDP1):c.863+247G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678744	NM_004715.5(CTDP1):c.864-163G>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518282	NM_004715.5(CTDP1):c.978G>A (p.Thr326=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 259522	NM_004715.5(CTDP1):c.1019C>T (p.Thr340Met)	CTDP1 (T340M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1279815	NM_004715.5(CTDP1):c.1031-263T>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392400	NM_004715.5(CTDP1):c.1042C>T (p.Arg348Ter)	CTDP1 (R348* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 730624	NM_004715.5(CTDP1):c.1066T>C (p.Ser356Pro)	CTDP1 (S356P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1703333	NM_004715.5(CTDP1):c.1162G>A (p.Glu388Lys)	CTDP1 (E269K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 681639	NM_004715.5(CTDP1):c.1166C>T (p.Ala389Val)	CTDP1 (A389V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1307565	NM_004715.5(CTDP1):c.1289C>T (p.Ala430Val)	CTDP1 (A311V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286855	NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2636062	NM_004715.5(CTDP1):c.1543G>A (p.Gly515Arg)	CTDP1 (G396R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284015	NM_004715.5(CTDP1):c.1728GGA[8] (p.Glu582dup)	CTDP1	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
Select item 712748	NM_004715.5(CTDP1):c.1728GGA[6] (p.Glu582del)	CTDP1 (E582del +1 more)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2412973	NM_004715.5(CTDP1):c.1859C>T (p.Pro620Leu)	CTDP1 (P501L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412974	NM_004715.5(CTDP1):c.1949C>T (p.Pro650Leu)	CTDP1 (P531L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287694	NM_004715.5(CTDP1):c.1995G>A (p.Ala665=)	CTDP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1264571	NM_004715.5(CTDP1):c.2068+45G>C	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213510	NM_004715.5(CTDP1):c.2068+112C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221431	NM_004715.5(CTDP1):c.2068+131A>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254521	NM_004715.5(CTDP1):c.2069-200C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269199	NM_004715.5(CTDP1):c.2069-163C>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292924	NM_004715.5(CTDP1):c.2069-156G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259523	NM_004715.5(CTDP1):c.2069-20C>T	CTDP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 769941	NM_004715.5(CTDP1):c.2070C>T (p.Gly690=)	CTDP1	Single nucleotide variant (synonymous variant)	Congenital cataracts-facial dysmorphism-neuropathy syndrome +1 more	GBenign/Likely benign
Select item 1215452	NM_004715.5(CTDP1):c.2210+29G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777338	NM_004715.5(CTDP1):c.2241G>C (p.Arg747=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 681324	NM_004715.5(CTDP1):c.2412C>T (p.Ser804=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 668525	NM_004715.5(CTDP1):c.2412C>G (p.Ser804=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1293303	NM_004715.5(CTDP1):c.2417+150G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190582	NM_004715.5(CTDP1):c.2418-82G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293304	NM_004715.5(CTDP1):c.2580+100G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221308	NM_004715.5(CTDP1):c.2580+255G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211549	NM_004715.5(CTDP1):c.2581-223del	CTDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1202573	NM_004715.5(CTDP1):c.2581-222G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205726	NM_004715.5(CTDP1):c.2581-178C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183769	NM_004715.5(CTDP1):c.2581-177G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186501	NM_004715.5(CTDP1):c.2681G>T (p.Arg894Leu)	CTDP1 (A840S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211664	NM_004715.5(CTDP1):c.2728G>A (p.Ala910Thr)	CTDP1 (A791T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1175513	NM_004715.5(CTDP1):c.2747+156C>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235795	NM_004715.5(CTDP1):c.2747+234del	CTDP1	Deletion (intron variant)	not provided	GBenign
Select item 1254927	NM_004715.5(CTDP1):c.2747+296T>G	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207089	NM_004715.5(CTDP1):c.2747+303G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293309	NM_004715.5(CTDP1):c.2748-187G>A	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292974	NM_004715.5(CTDP1):c.2748-157C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211602	NM_004715.5(CTDP1):c.2748-144C>T	CTDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128865	NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)	CTDP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1293306	NM_004715.5(CTDP1):c.*51G>A	CTDP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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