"CCDC50-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2632482	NM_178335.3(CCDC50):c.171G>C (p.Gln57His)	CCDC50 (Q57H)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 3030599	NM_178335.3(CCDC50):c.302G>A (p.Arg101Lys)	CCDC50 (R101K)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 3032560	NM_178335.3(CCDC50):c.448+5C>G	CCDC50	Single nucleotide variant (intron variant)	CCDC50-related disorder	GLikely benign
Select item 178600	NM_178335.3(CCDC50):c.626C>T (p.Ser209Leu)	CCDC50 (S209L)	Single nucleotide variant (missense variant +1 more)	CCDC50-related disorder +2 more	GBenign
Select item 3031138	NM_178335.3(CCDC50):c.788G>C (p.Arg263Pro)	CCDC50 (R263P)	Single nucleotide variant (missense variant +1 more)	CCDC50-related disorder	GLikely benign
Select item 3038329	NM_178335.3(CCDC50):c.977-7_977-5dup	CCDC50	Duplication (intron variant)	CCDC50-related disorder	GBenign
Select item 3050168	NM_178335.3(CCDC50):c.1143C>T (p.Ile381=)	CCDC50	Single nucleotide variant (synonymous variant)	CCDC50-related disorder	GLikely benign
Select item 162861	NM_178335.3(CCDC50):c.1203A>G (p.Lys401=)	CCDC50	Single nucleotide variant (synonymous variant)	CCDC50-related disorder +2 more	GBenign/Likely benign
Select item 2632635	NM_178335.3(CCDC50):c.1234G>A (p.Glu412Lys)	CCDC50 (E236K +1 more)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 227212	NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu)	CCDC50 (K426E +1 more)	Single nucleotide variant (missense variant)	CCDC50-related disorder +2 more	GBenign/Likely benign
Select item 194136	NM_178335.3(CCDC50):c.1430-9C>G	CCDC50	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity