CSDE1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050658	NM_001007553.3(CSDE1):c.*10C>G	CSDE1	Single nucleotide variant (3 prime UTR variant)	CSDE1-related disorder	GLikely benign
Select item 3269730	NM_001007553.3(CSDE1):c.2378A>C (p.Gln793Pro)	CSDE1 (Q793P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697143	NM_001007553.3(CSDE1):c.2374del (p.Arg792fs)	CSDE1 (R761fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1314739	NM_001007553.3(CSDE1):c.2362G>C (p.Glu788Gln)	CSDE1 (E788Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054211	NM_001007553.3(CSDE1):c.2350-5C>T	CSDE1	Single nucleotide variant (intron variant)	CSDE1-related disorder	GLikely benign
Select item 721068	NM_001007553.3(CSDE1):c.2350-5C>A	CSDE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2307499	NM_001007553.3(CSDE1):c.2350-6C>A	CSDE1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1696729	NM_001007553.3(CSDE1):c.2336C>G (p.Pro779Arg)	CSDE1 (P748R +3 more)	Single nucleotide variant (missense variant)	CSDE1-associated neurodevelopmental disorder	GUncertain significance
Select item 2631456	NM_001007553.3(CSDE1):c.2321G>A (p.Arg774His)	CSDE1 (R743H +3 more)	Single nucleotide variant (missense variant)	CSDE1-related disorder	GUncertain significance
Select item 1801059	NM_001007553.3(CSDE1):c.2320C>T (p.Arg774Cys)	CSDE1 (R743C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269726	NM_001007553.3(CSDE1):c.2218G>C (p.Glu740Gln)	CSDE1 (E740Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579490	NM_001007553.3(CSDE1):c.2147A>G (p.Glu716Gly)	CSDE1 (E685G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976762	NM_001007553.3(CSDE1):c.2134C>T (p.Gln712Ter)	CSDE1 (Q681* +3 more)	Single nucleotide variant (nonsense)	CSDE1-associated disorder	GLikely pathogenic
Select item 730389	NM_001007553.3(CSDE1):c.2097T>C (p.Phe699=)	CSDE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1315179	NM_001007553.3(CSDE1):c.2066_2069del (p.Asn689fs)	CSDE1 (N658fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 725517	NM_001007553.3(CSDE1):c.2053-4T>C	CSDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035040	NM_001007553.3(CSDE1):c.2052+8C>T	CSDE1	Single nucleotide variant (intron variant)	CSDE1-related disorder	GLikely benign
Select item 2572968	NM_001007553.3(CSDE1):c.2021G>A (p.Arg674His)	CSDE1 (R643H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242244	NM_001007553.3(CSDE1):c.1988C>T (p.Ala663Val)	CSDE1 (A632V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676902	NM_001007553.3(CSDE1):c.1987G>T (p.Ala663Ser)	CSDE1 (A632S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715551	NM_001007553.3(CSDE1):c.1965A>G (p.Gln655=)	CSDE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077963	NM_001007553.3(CSDE1):c.1954G>A (p.Val652Ile)	CSDE1 (V652I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3345625	NM_001007553.3(CSDE1):c.1930G>T (p.Asp644Tyr)	CSDE1 (D613Y +3 more)	Single nucleotide variant (missense variant)	CSDE1-related disorder	GUncertain significance
Select item 2472248	NM_001007553.3(CSDE1):c.1922A>G (p.Asn641Ser)	CSDE1 (N641S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312713	NM_001007553.3(CSDE1):c.1909G>A (p.Val637Ile)	CSDE1 (V683I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700333	NM_001007553.3(CSDE1):c.1906A>G (p.Ile636Val)	CSDE1 (I605V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365717	NM_001007553.3(CSDE1):c.1856T>C (p.Ile619Thr)	CSDE1 (I588T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753573	NM_001007553.3(CSDE1):c.1855A>G (p.Ile619Val)	CSDE1 (I619V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835231	NM_001007553.3(CSDE1):c.1837A>G (p.Thr613Ala)	CSDE1 (T659A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049325	NM_001007553.3(CSDE1):c.1818G>A (p.Arg606=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 3048224	NM_001007553.3(CSDE1):c.1812C>T (p.Pro604=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 3365686	NM_001007553.3(CSDE1):c.1810C>G (p.Pro604Ala)	CSDE1 (P573A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515366	NM_001007553.3(CSDE1):c.1705G>A (p.Gly569Ser)	CSDE1 (G569S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044134	NM_001007553.3(CSDE1):c.1623A>G (p.Glu541=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 3356795	NM_001007553.3(CSDE1):c.1548C>T (p.Ser516=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 3364556	NM_001007553.3(CSDE1):c.1531G>T (p.Gly511Cys)	CSDE1 (G480C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253402	NM_001007553.3(CSDE1):c.1525C>G (p.Leu509Val)	CSDE1 (L478V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258131	NM_001007553.3(CSDE1):c.1483G>A (p.Asp495Asn)	CSDE1 (D495N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269727	NM_001007553.3(CSDE1):c.1441A>G (p.Thr481Ala)	CSDE1 (T496A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3343029	NM_001007553.3(CSDE1):c.1383TGA[1] (p.Asp463del)	CSDE1 (D432del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3058601	NM_001007553.3(CSDE1):c.1383T>C (p.Tyr461=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 2504997	NM_001007553.3(CSDE1):c.1351G>A (p.Glu451Lys)	CSDE1 (E420K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366246	NM_001007553.3(CSDE1):c.1342A>G (p.Lys448Glu)	CSDE1 (K417E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2371492	NM_001007553.3(CSDE1):c.1319A>G (p.Asn440Ser)	CSDE1 (N440S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077961	NM_001007553.3(CSDE1):c.1307C>T (p.Ala436Val)	CSDE1 (A482V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1904593	NM_001007553.3(CSDE1):c.1291A>G (p.Thr431Ala)	CSDE1 (T431A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077960	NM_001007553.3(CSDE1):c.1262A>G (p.His421Arg)	CSDE1 (H467R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316945	NM_001007553.3(CSDE1):c.1245G>T (p.Lys415Asn)	CSDE1 (K384N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711220	NM_001007553.3(CSDE1):c.1228A>T (p.Ile410Phe)	CSDE1 (I379F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302066	NM_001007553.3(CSDE1):c.1198C>T (p.Leu400Phe)	CSDE1 (L369F +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3077959	NM_001007553.3(CSDE1):c.1067T>C (p.Met356Thr)	CSDE1 (M356T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662018	NM_001007553.3(CSDE1):c.1046A>G (p.Glu349Gly)	CSDE1 (E318G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365768	NM_001007553.3(CSDE1):c.1019C>T (p.Thr340Ile)	CSDE1 (T309I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269731	NM_001007553.3(CSDE1):c.1006G>A (p.Val336Ile)	CSDE1 (V305I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677041	NM_001007553.3(CSDE1):c.989G>A (p.Arg330Gln)	CSDE1 (R299Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636758	NM_001007553.3(CSDE1):c.970C>T (p.Arg324Ter)	CSDE1 (R293* +3 more)	Single nucleotide variant (nonsense)	CSDE1-related disorder	GUncertain significance
Select item 3077958	NM_001007553.3(CSDE1):c.951G>T (p.Arg317Ser)	CSDE1 (R332S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455331	NM_001007553.3(CSDE1):c.944A>C (p.His315Pro)	CSDE1 (H330P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404457	NM_001007553.3(CSDE1):c.944A>G (p.His315Arg)	CSDE1 (H330R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579800	NM_001007553.3(CSDE1):c.812T>A (p.Ile271Asn)	CSDE1 (I240N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571672	NM_001007553.3(CSDE1):c.805A>G (p.Lys269Glu)	CSDE1 (K238E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3269728	NM_001007553.3(CSDE1):c.701A>G (p.Lys234Arg)	CSDE1 (K234R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3077966	NM_001007553.3(CSDE1):c.650A>C (p.Lys217Thr)	CSDE1 (K186T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269733	NM_001007553.3(CSDE1):c.598A>T (p.Ile200Phe)	CSDE1 (I215F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534155	NM_001007553.3(CSDE1):c.529A>G (p.Met177Val)	CSDE1 (M177V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1810077	NM_001007553.3(CSDE1):c.500+1G>C	CSDE1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 786855	NM_001007553.3(CSDE1):c.480T>C (p.Phe160=)	CSDE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3269732	NM_001007553.3(CSDE1):c.422A>G (p.Tyr141Cys)	CSDE1 (Y110C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662040	NM_001007553.3(CSDE1):c.403-13_403-10del	CSDE1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2632040	NM_001007553.3(CSDE1):c.395G>A (p.Arg132His)	CSDE1 (R132H +1 more)	Single nucleotide variant (missense variant +1 more)	CSDE1-related disorder	GUncertain significance
Select item 2618350	NM_001007553.3(CSDE1):c.359C>T (p.Pro120Leu)	CSDE1 (P166L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295089	NM_001007553.3(CSDE1):c.319G>A (p.Ala107Thr)	CSDE1 (A107T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045970	NM_001007553.3(CSDE1):c.310-11_310-10del	CSDE1	Deletion (intron variant)	CSDE1-related disorder	GLikely benign
Select item 1331588	NM_001007553.3(CSDE1):c.309+4A>G	CSDE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2605158	NM_001007553.3(CSDE1):c.304G>A (p.Gly102Arg)	CSDE1 (G102R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077965	NM_001007553.3(CSDE1):c.296G>A (p.Arg99Gln)	CSDE1 (R99Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055590	NM_001007553.3(CSDE1):c.288T>G (p.Pro96=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GBenign
Select item 3050795	NM_001007553.3(CSDE1):c.288T>C (p.Pro96=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 1331564	NM_001007553.3(CSDE1):c.247A>G (p.Ile83Val)	CSDE1 (I129V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310110	NM_001007553.3(CSDE1):c.243dup (p.Pro82fs)	CSDE1 (P128fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3030528	NM_001007553.3(CSDE1):c.229C>T (p.Arg77Ter)	CSDE1 (R123* +1 more)	Single nucleotide variant (nonsense)	CSDE1-related disorder	GUncertain significance
Select item 788636	NM_001007553.3(CSDE1):c.225G>A (p.Ser75=)	CSDE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050575	NM_001007553.3(CSDE1):c.222A>G (p.Ser74=)	CSDE1	Single nucleotide variant (synonymous variant)	CSDE1-related disorder	GLikely benign
Select item 2499172	NM_001007553.3(CSDE1):c.213T>G (p.Phe71Leu)	CSDE1 (F117L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329101	NM_001007553.3(CSDE1):c.192A>C (p.Lys64Asn)	CSDE1 (K110N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326802	NM_001007553.3(CSDE1):c.175A>G (p.Asn59Asp)	CSDE1 (N105D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302055	NM_001007553.3(CSDE1):c.161C>G (p.Ser54Ter)	CSDE1 (S100* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3077964	NM_001007553.3(CSDE1):c.136C>G (p.Gln46Glu)	CSDE1 (Q46E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631625	NM_001007553.3(CSDE1):c.46dup (p.Tyr16fs)	CSDE1 (Y16fs +1 more)	Duplication (frameshift variant)	CSDE1-related disorder	GUncertain significance
Select item 3364571	NM_001007553.3(CSDE1):c.35G>C (p.Gly12Ala)	CSDE1 (G12A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2318131	NM_001007553.3(CSDE1):c.32A>G (p.Asn11Ser)	CSDE1 (N11S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269729	NM_001007553.3(CSDE1):c.16A>G (p.Asn6Asp)	CSDE1 (N52D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630866	NM_001007553.3(CSDE1):c.1A>G (p.Met1Val)	CSDE1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	CSDE1-related disorder	GUncertain significance
Select item 2664623	NM_001007553.3(CSDE1):c.1-1636G>T	CSDE1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2229894	NM_001007553.3(CSDE1):c.1-1661G>C	CSDE1 (K38N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803344	NM_001007553.3(CSDE1):c.1-1680C>G	CSDE1 (S32C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1456687	NM_001007553.3(CSDE1):c.1-1700dup	CSDE1 (S26fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2150655	NM_001007553.3(CSDE1):c.1-1710del	CSDE1 (S22fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3364781	NM_001007553.3(CSDE1):c.1-1728C>T	CSDE1 (A16V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1329621	NM_001007553.3(CSDE1):c.1-1749C>G	CSDE1 (S9*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic

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