Related gene-specific medical variations for Gene (Select 257313) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3005401	NM_198152.5(UTS2B):c.-665+685C>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1800758	NM_178335.3(CCDC50):c.33G>A (p.Leu11=)	CCDC50, UTS2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1286281	NM_198152.5(UTS2B):c.-665+460C>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280397	NM_198152.5(UTS2B):c.-665+470_-665+471del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1276782	NM_198152.5(UTS2B):c.-665+463C>G	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266348	NM_198152.5(UTS2B):c.-665+471del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1262490	NM_198152.5(UTS2B):c.-665+469_-665+471del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1260189	NM_198152.5(UTS2B):c.-665+477C>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252176	NM_198152.5(UTS2B):c.-665+443T>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248341	NM_198152.5(UTS2B):c.-665+468C>G	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237149	NM_198152.5(UTS2B):c.-665+460C>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236710	NM_198152.5(UTS2B):c.-665+472A>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230089	NM_198152.5(UTS2B):c.-665+435_-665+438del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1211264	NM_178335.3(CCDC50):c.45G>A (p.Lys15=)	CCDC50, UTS2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1210754	NM_198152.5(UTS2B):c.-664-744G>A	CCDC50, UTS2B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1197699	NM_198152.5(UTS2B):c.-665+802G>C	CCDC50, UTS2B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 262931	NM_198152.5(UTS2B):c.-665+671T>C	UTS2B, CCDC50	Single nucleotide variant (intron variant)	not provided +1 more	GBenign