Related gene-specific medical variations for Gene (Select 554201) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263923	NM_138803.4(CCDC148):c.1342G>T (p.Ala448Ser)	CCDC148, CCDC148-AS1 (A302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138485	NM_138803.4(CCDC148):c.1622A>G (p.Glu541Gly)	CCDC148, CCDC148-AS1 (E541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138484	NM_138803.4(CCDC148):c.1364G>C (p.Arg455Thr)	CCDC148, CCDC148-AS1 (R455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289169	NM_138803.4(CCDC148):c.1691C>A (p.Thr564Lys)	CCDC148, CCDC148-AS1 (T418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255236	NM_138803.4(CCDC148):c.1540G>A (p.Ala514Thr)	CCDC148, CCDC148-AS1 (A368T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792181	NM_138803.4(CCDC148):c.1614A>G (p.Thr538=)	CCDC148, CCDC148-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761064	NM_138803.4(CCDC148):c.1489-9C>T	CCDC148, CCDC148-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 736667	NM_138803.4(CCDC148):c.1680A>G (p.Gly560=)	CCDC148, CCDC148-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716761	NM_138803.4(CCDC148):c.1564G>A (p.Glu522Lys)	CCDC148, CCDC148-AS1 (E376K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign