Related gene-specific medical variations for Gene (Select 130940) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289169	NM_138803.4(CCDC148):c.1691C>A (p.Thr564Lys)	CCDC148, CCDC148-AS1 (T418K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255236	NM_138803.4(CCDC148):c.1540G>A (p.Ala514Thr)	CCDC148-AS1, CCDC148 (A368T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1340109	GRCh37/hg19 2q24.1(chr2:159079205-159275673)x1	CCDC148	Copy number loss	not provided	GUncertain significance
Select item 814335	GRCh37/hg19 2q24.1(chr2:159085853-159275673)x1	CCDC148	Copy number loss	not provided	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

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