ClinVar for MedGen (Select 1648412) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064952	NM_001012759.3(CTU2):c.837G>A (p.Leu279=)	CTU2	Single nucleotide variant (synonymous variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GUncertain significance
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 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 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 1521874	NM_001012759.3(CTU2):c.611C>T (p.Pro204Leu)	CTU2 (P117L +2 more)	Single nucleotide variant (missense variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1285282	NM_001012759.3(CTU2):c.1246C>T (p.Gln416Ter)	CTU2 (Q329* +2 more)	Single nucleotide variant (nonsense)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GUncertain significance
Select item 1255421	NM_001012759.3(CTU2):c.1503G>C (p.Arg501=)	CTU2, PIEZO1 (G482R)	Single nucleotide variant (missense variant +1 more)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +1 more	GBenign
Select item 1255420	NM_001012759.3(CTU2):c.1201+29C>G	CTU2	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GBenign
Select item 1255419	NM_001012759.3(CTU2):c.1006-26A>G	CTU2	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GBenign
Select item 1255418	NM_001012759.3(CTU2):c.757A>G (p.Met253Val)	CTU2 (M166V +2 more)	Single nucleotide variant (missense variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +1 more	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 1251287	NM_001012759.3(CTU2):c.1332T>C (p.Cys444=)	CTU2	Single nucleotide variant (synonymous variant)	CTU2-related disorder +2 more	GBenign
Select item 1250928	NM_001012759.3(CTU2):c.1097+6_1097+11del	CTU2	Microsatellite (splice donor variant)	not provided +1 more	GBenign
Select item 1224641	NM_001012759.3(CTU2):c.1420-37A>G	CTU2, PIEZO1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1220852	NM_001012759.3(CTU2):c.1247A>G (p.Gln416Arg)	CTU2 (Q329R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 800762	NM_001012759.3(CTU2):c.873+5G>A	CTU2	Single nucleotide variant (intron variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	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 635411	NM_001012759.3(CTU2):c.1514_1517del (p.Ile505fs)	CTU2 (I505fs +3 more)	Deletion (frameshift variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GPathogenic
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 635409	NM_001012759.3(CTU2):c.1206dup (p.Ala403fs)	CTU2 (A403fs +2 more)	Duplication (frameshift variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GPathogenic
Select item 585016	NM_001012759.3(CTU2):c.873G>A (p.Thr291=)	CTU2	Single nucleotide variant (synonymous variant)	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	GPathogenic

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Items: 21