"Baylor Genetics"[submitter] AND "C10orf105"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521399	NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	C10orf105, CDH23 (R1081*)	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GPathogenic
Select item 2680451	NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)	C10orf105, CDH23 (R1099fs)	Duplication (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680515	NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)	C10orf105, CDH23 (E1133*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 45918	NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	C10orf105, CDH23 (E1133K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 45920	NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)	C10orf105, CDH23 (R1161*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GPathogenic
Select item 2680476	NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)	C10orf105, CDH23 (P1163fs)	Duplication (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241056	NM_022124.6(CDH23):c.3535G>T (p.Glu1179Ter)	C10orf105, CDH23 (E1179*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1458365	NM_022124.6(CDH23):c.3579+2T>C	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2680458	NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)	C10orf105, CDH23 (Y1197*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680510	NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)	C10orf105, CDH23 (Q1212*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1073637	NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)	C10orf105, CDH23 (R1219*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 45929	NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)	C10orf105, CDH23 (R1236*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2680505	NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)	C10orf105, CDH23 (D1240fs)	Deletion (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680507	NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)	C10orf105, CDH23 (E1257*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 3241037	NM_022124.6(CDH23):c.3820del (p.Glu1274fs)	C10orf105, CDH23 (E1274fs)	Deletion (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2136882	NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)	C10orf105, CDH23 (Q1288*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 4923	NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)	C10orf105, CDH23 (D1341N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2680498	NM_022124.6(CDH23):c.4101_4104+3del	C10orf105, CDH23 (T1368fs)	Deletion (frameshift variant +2 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680449	NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)	C10orf105, CDH23 (D1399N)	Single nucleotide variant (missense variant +1 more)	Pituitary adenoma 5, multiple types	GUncertain significance
Select item 1067735	NM_022124.6(CDH23):c.4206+1G>A	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2680500	NM_022124.6(CDH23):c.4207-2A>G	C10orf105, CDH23	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 166813	NM_022124.6(CDH23):c.4209+1G>T	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 22