CDT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1048365	NC_000016.10:g.88770428_88832724del	APRT, CDT1 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048364	NC_000016.10:g.88779266_88827672del	APRT, CDT1 +11 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1251474	NC_000016.10:g.88803534C>A	CDT1	Single nucleotide variant	not provided	GBenign
Select item 1190974	NC_000016.10:g.88803601G>A	CDT1	Single nucleotide variant	not provided	GLikely benign
Select item 1266228	NC_000016.10:g.88803626C>G	CDT1	Single nucleotide variant	not provided	GBenign
Select item 1181899	NC_000016.10:g.88803691T>C	CDT1	Single nucleotide variant	not provided	GBenign
Select item 1221080	NC_000016.10:g.88803697C>A	CDT1	Single nucleotide variant	not provided	GBenign
Select item 1379796	NM_030928.4(CDT1):c.4G>A (p.Glu2Lys)	CDT1 (E2K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118989	NM_030928.4(CDT1):c.8A>T (p.Gln3Leu)	CDT1 (Q3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060225	NM_030928.4(CDT1):c.10C>T (p.Arg4Cys)	CDT1 (R4C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349320	NM_030928.4(CDT1):c.11G>T (p.Arg4Leu)	CDT1 (R4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 723696	NM_030928.4(CDT1):c.15C>A (p.Arg5=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1972396	NM_030928.4(CDT1):c.16del (p.Val6fs)	CDT1 (V6fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2204173	NM_030928.4(CDT1):c.32C>T (p.Ala11Val)	CDT1 (A11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182468	NM_030928.4(CDT1):c.45C>T (p.Pro15=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1015874	NM_030928.4(CDT1):c.46G>A (p.Gly16Arg)	CDT1, LOC130059759 (G16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1012020	NM_030928.4(CDT1):c.56G>A (p.Arg19His)	CDT1, LOC130059759 (R19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031151	NM_030928.4(CDT1):c.57C>T (p.Arg19=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141749	NM_030928.4(CDT1):c.58A>C (p.Ile20Leu)	CDT1, LOC130059759 (I20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1486949	NM_030928.4(CDT1):c.58A>G (p.Ile20Val)	CDT1, LOC130059759 (I20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434669	NM_030928.4(CDT1):c.75G>T (p.Leu25=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1639128	NM_030928.4(CDT1):c.90C>G (p.Pro30=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858842	NM_030928.4(CDT1):c.100A>C (p.Arg34=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822042	NM_030928.4(CDT1):c.109C>T (p.Leu37Phe)	CDT1, LOC130059759 (L37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128660	NM_030928.4(CDT1):c.111C>T (p.Leu37=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3141740	NM_030928.4(CDT1):c.116C>T (p.Ala39Val)	LOC130059759, CDT1 (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2854721	NM_030928.4(CDT1):c.120G>C (p.Pro40=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982884	NM_030928.4(CDT1):c.123C>T (p.Ala41=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755613	NM_030928.4(CDT1):c.123C>G (p.Ala41=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795886	NM_030928.4(CDT1):c.126C>G (p.Ser42=)	CDT1, LOC130059759	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128667	NM_030928.4(CDT1):c.130A>C (p.Thr44Pro)	CDT1, LOC130059759 (T44P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1487602	NM_030928.4(CDT1):c.142C>A (p.Arg48Ser)	CDT1, LOC130059759 (R48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141743	NM_030928.4(CDT1):c.152C>T (p.Ala51Val)	CDT1 (A51V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2867890	NM_030928.4(CDT1):c.156C>T (p.Arg52=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933965	NM_030928.4(CDT1):c.158C>T (p.Pro53Leu)	CDT1 (P53L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1944975	NM_030928.4(CDT1):c.160C>T (p.Pro54Ser)	CDT1 (P54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861223	NM_030928.4(CDT1):c.162C>T (p.Pro54=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503832	NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)	CDT1 (A56fs)	Indel (frameshift variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 434670	NM_030928.4(CDT1):c.172G>C (p.Gly58Arg)	CDT1 (G58R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1358177	NM_030928.4(CDT1):c.184G>A (p.Ala62Thr)	CDT1 (A62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434671	NM_030928.4(CDT1):c.185C>T (p.Ala62Val)	CDT1 (A62V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 30501	NM_030928.4(CDT1):c.196G>A (p.Ala66Thr)	CDT1 (A66T)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 1414858	NM_030928.4(CDT1):c.212G>T (p.Arg71Leu)	CDT1 (R71L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352911	NM_030928.4(CDT1):c.218C>G (p.Ser73Trp)	CDT1 (S73W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205873	NM_030928.4(CDT1):c.220G>C (p.Val74Leu)	CDT1 (V74L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484497	NM_030928.4(CDT1):c.228+4_228+5dup	CDT1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1609596	NM_030928.4(CDT1):c.228+10G>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833311	NM_030928.4(CDT1):c.228+27_228+55del	CDT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2762191	NM_030928.4(CDT1):c.228+17G>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947961	NM_030928.4(CDT1):c.228+20T>A	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417285	NM_030928.4(CDT1):c.229-20C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563709	NM_030928.4(CDT1):c.229-13T>A	CDT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1123580	NM_030928.4(CDT1):c.229-7C>G	CDT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1367001	NM_030928.4(CDT1):c.229-3C>T	CDT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1502692	NM_030928.4(CDT1):c.242G>A (p.Ser81Asn)	CDT1 (S81N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128675	NM_030928.4(CDT1):c.243T>C (p.Ser81=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2819466	NM_030928.4(CDT1):c.246C>A (p.Thr82=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790427	NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)	CDT1 (P83L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 749080	NM_030928.4(CDT1):c.249C>T (p.Pro83=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712850	NM_030928.4(CDT1):c.252G>A (p.Glu84=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2550527	NM_030928.4(CDT1):c.254C>T (p.Ala85Val)	CDT1 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439891	NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)	CDT1 (D87G)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 1337017	NM_030928.4(CDT1):c.268G>A (p.Ala90Thr)	CDT1 (A90T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2074394	NM_030928.4(CDT1):c.277T>C (p.Ser93Pro)	CDT1 (S93P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1985773	NM_030928.4(CDT1):c.278C>T (p.Ser93Phe)	CDT1 (S93F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3265621	NM_030928.4(CDT1):c.287A>G (p.Gln96Arg)	CDT1 (Q96R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1918983	NM_030928.4(CDT1):c.288G>A (p.Gln96=)	CDT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423292	NM_030928.4(CDT1):c.291G>C (p.Lys97Asn)	CDT1 (K97N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434672	NM_030928.4(CDT1):c.292A>G (p.Ile98Val)	CDT1 (I98V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2820373	NM_030928.4(CDT1):c.293T>C (p.Ile98Thr)	CDT1 (I98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003279	NM_030928.4(CDT1):c.304A>C (p.Thr102Pro)	CDT1 (T102P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041571	NM_030928.4(CDT1):c.317G>T (p.Gly106Val)	CDT1 (G106V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2794768	NM_030928.4(CDT1):c.345G>T (p.Gln115His)	CDT1 (Q115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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