"CTU2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035852	NM_001012759.3(CTU2):c.-3C>G	CTU2	Single nucleotide variant (5 prime UTR variant)	CTU2-related disorder	GLikely benign
Select item 1529311	NM_001012759.3(CTU2):c.25G>A (p.Gly9Arg)	CTU2 (G9R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1253335	NM_001012759.3(CTU2):c.69-16C>A	CTU2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2906481	NM_001012759.3(CTU2):c.74A>C (p.Glu25Ala)	CTU2 (E25A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 635410	NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro)	CTU2 (L63P)	Single nucleotide variant (missense variant +1 more)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3055992	NM_001012759.3(CTU2):c.223-7C>T	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder	GLikely benign
Select item 786641	NM_001012759.3(CTU2):c.322G>C (p.Ala108Pro)	CTU2 (A21P +1 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign
Select item 3035550	NM_001012759.3(CTU2):c.344-122C>T	CTU2	Single nucleotide variant (synonymous variant +1 more)	CTU2-related disorder	GBenign
Select item 3029156	NM_001012759.3(CTU2):c.387C>G (p.Thr129=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 3047297	NM_001012759.3(CTU2):c.393C>T (p.Ala131=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	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 3050224	NM_001012759.3(CTU2):c.454-6C>T	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder	GLikely benign
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 770637	NM_001012759.3(CTU2):c.522C>T (p.Tyr174=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder +1 more	GBenign
Select item 1521874	NM_001012759.3(CTU2):c.611C>T (p.Pro204Leu)	CTU2 (P117L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 3049500	NM_001012759.3(CTU2):c.736C>A (p.Arg246=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 718241	NM_001012759.3(CTU2):c.771C>G (p.His257Gln)	CTU2 (H170Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1599332	NM_001012759.3(CTU2):c.873+10G>A	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder +1 more	GBenign
Select item 3058462	NM_001012759.3(CTU2):c.894C>T (p.His298=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 1600598	NM_001012759.3(CTU2):c.994G>A (p.Val332Ile)	CTU2 (V245I +2 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign
Select item 1532872	NM_001012759.3(CTU2):c.1065C>G (p.Thr355=)	CTU2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1534843	NM_001012759.3(CTU2):c.1098-9C>T	CTU2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 780164	NM_001012759.3(CTU2):c.1127G>A (p.Arg376Gln)	CTU2 (R376Q +2 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign/Likely benign
Select item 2044178	NM_001012759.3(CTU2):c.1153G>A (p.Gly385Ser)	CTU2 (G385S +2 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign/Likely benign
Select item 2460670	NM_001012759.3(CTU2):c.1160G>A (p.Arg387His)	CTU2 (R387H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3045763	NM_001012759.3(CTU2):c.1183C>T (p.Leu395=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder	GLikely benign
Select item 3045805	NM_001012759.3(CTU2):c.1201+7_1201+8del	CTU2	Microsatellite (intron variant)	CTU2-related disorder	GLikely benign
Select item 3029192	NM_001012759.3(CTU2):c.1202-8G>A	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder	GLikely benign
Select item 770638	NM_001012759.3(CTU2):c.1221G>A (p.Gly407=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder +1 more	GBenign
Select item 3048485	NM_001012759.3(CTU2):c.1226A>C (p.Gln409Pro)	CTU2 (Q322P +2 more)	Single nucleotide variant (missense variant)	CTU2-related disorder	GLikely benign
Select item 1599335	NM_001012759.3(CTU2):c.1280G>A (p.Arg427Gln)	CTU2 (R340Q +2 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign
Select item 791600	NM_001012759.3(CTU2):c.1298G>C (p.Cys433Ser)	CTU2 (C346S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1251287	NM_001012759.3(CTU2):c.1332T>C (p.Cys444=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder +2 more	GBenign
Select item 3045905	NM_001012759.3(CTU2):c.1353-4G>A	CTU2	Single nucleotide variant (intron variant)	CTU2-related disorder	GLikely benign
Select item 713607	NM_001012759.3(CTU2):c.1357G>A (p.Asp453Asn)	CTU2 (D453N +2 more)	Single nucleotide variant (missense variant)	CTU2-related disorder +1 more	GBenign
Select item 1601401	NM_001012759.3(CTU2):c.1425A>G (p.Ser475=)	CTU2	Single nucleotide variant (synonymous variant +1 more)	CTU2-related disorder +1 more	GBenign/Likely benign
Select item 3036001	NM_001012759.3(CTU2):c.1525G>A (p.Asp509Asn)	CTU2 (D422N +2 more)	Single nucleotide variant (missense variant +1 more)	CTU2-related disorder	GUncertain significance
Select item 1204228	NM_001012759.3(CTU2):c.1531G>A (p.Glu511Lys)	CTU2 (E424K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 42