"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCDC50"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262931	NM_198152.5(UTS2B):c.-665+671T>C	UTS2B, CCDC50	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 48155	NM_178335.3(CCDC50):c.50-4C>G	CCDC50	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2632482	NM_178335.3(CCDC50):c.171G>C (p.Gln57His)	CCDC50 (Q57H)	Single nucleotide variant (missense variant)	CCDC50-related condition	GUncertain significance
Select item 48153	NM_178335.3(CCDC50):c.228C>T (p.Arg76=)	CCDC50	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3030599	NM_178335.3(CCDC50):c.302G>A (p.Arg101Lys)	CCDC50 (R101K)	Single nucleotide variant (missense variant)	CCDC50-related condition	GUncertain significance
Select item 48154	NM_178335.3(CCDC50):c.363A>T (p.Leu121Phe)	CCDC50 (L121F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3032560	NM_178335.3(CCDC50):c.448+5C>G	CCDC50	Single nucleotide variant (intron variant)	CCDC50-related condition	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 condition +2 more	GBenign
Select item 48156	NM_178335.3(CCDC50):c.651T>C (p.His217=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 48157	NM_178335.3(CCDC50):c.678A>G (p.Lys226=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 48158	NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn)	CCDC50 (I258N)	Single nucleotide variant (missense variant +1 more)	not specified +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 condition	GLikely benign
Select item 48159	NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg)	CCDC50 (K303R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 48160	NM_178335.3(CCDC50):c.976+6A>G	CCDC50	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3038329	NM_178335.3(CCDC50):c.977-7_977-5dup	CCDC50	Duplication (intron variant)	CCDC50-related condition	GBenign
Select item 48161	NM_178335.3(CCDC50):c.995T>C (p.Met332Thr)	CCDC50 (M332T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 262930	NM_178335.3(CCDC50):c.1137+19C>G	CCDC50	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3050168	NM_178335.3(CCDC50):c.1143C>T (p.Ile381=)	CCDC50	Single nucleotide variant (synonymous variant)	CCDC50-related condition	GLikely benign
Select item 162860	NM_178335.3(CCDC50):c.1181A>G (p.Lys394Arg)	CCDC50 (K394R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 162861	NM_178335.3(CCDC50):c.1203A>G (p.Lys401=)	CCDC50	Single nucleotide variant (synonymous variant)	not specified +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 condition	GUncertain significance
Select item 48150	NM_178335.3(CCDC50):c.1242+10G>A	CCDC50	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 48151	NM_178335.3(CCDC50):c.1269C>A (p.Ser423=)	CCDC50	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 227212	NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu)	CCDC50 (K426E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 48152	NM_178335.3(CCDC50):c.1396C>T (p.Arg466Trp)	CCDC50 (R466W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 194136	NM_178335.3(CCDC50):c.1430-9C>G	CCDC50	Single nucleotide variant (intron variant)	CCDC50-related condition +1 more	GConflicting classifications of pathogenicity

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Items: 26