ClinVar for Gene (Select 554201) - ClinVar - NCBI

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Links from Gene

Items: 17

	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
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 154128	GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1	ACVR1, ACVR1C +26 more	Copy number loss	See cases	GUncertain significance
Select item 148746	GRCh38/hg38 2q24.1(chr2:158081288-158743457)x1	CCDC148, CCDC148-AS1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic