CTU2[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	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +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 151647	GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1	CTU2, LOC130059740 +16 more	Copy number loss	See cases	GBenign
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 3035852	NM_001012759.3(CTU2):c.-3C>G	CTU2	Single nucleotide variant (5 prime UTR variant)	CTU2-related condition	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)	CTU2-related condition +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)	CTU2-related condition +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)	not provided +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 specified +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 condition	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 condition +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 condition	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 condition	GLikely benign
Select item 3047297	NM_001012759.3(CTU2):c.393C>T (p.Ala131=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related condition	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 condition	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)	not provided +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)	CTU2-related condition +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

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