"Invitae"[submitter] AND "CCR1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775865	NM_001295.3(CCR1):c.1067G>A (p.Ter356=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708388	NM_001295.3(CCR1):c.1014G>A (p.Arg338=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726052	NM_001295.3(CCR1):c.996C>T (p.Ser332=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771853	NM_001295.3(CCR1):c.903C>T (p.Tyr301=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775866	NM_001295.3(CCR1):c.871T>C (p.Tyr291His)	CCR1 (Y291H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733626	NM_001295.3(CCR1):c.868G>A (p.Ala290Thr)	CCR1 (A290T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713779	NM_001295.3(CCR1):c.476C>T (p.Ala159Val)	CCR1 (A159V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719418	NM_001295.3(CCR1):c.438C>T (p.Thr146=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791924	NM_001295.3(CCR1):c.381G>A (p.Leu127=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708712	NM_001295.3(CCR1):c.162G>C (p.Leu54=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance