ClinVar for Gene (Select 1230) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264636	NM_001295.3(CCR1):c.92C>A (p.Ala31Asp)	CCR1 (A31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140067	NM_001295.3(CCR1):c.90G>C (p.Arg30Ser)	CCR1 (R30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140066	NM_001295.3(CCR1):c.840C>A (p.Asp280Glu)	CCR1 (D280E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140064	NM_001295.3(CCR1):c.553C>T (p.Leu185Phe)	CCR1 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140063	NM_001295.3(CCR1):c.475G>T (p.Ala159Ser)	CCR1 (A159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140062	NM_001295.3(CCR1):c.172G>A (p.Val58Ile)	CCR1 (V58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140061	NM_001295.3(CCR1):c.105A>C (p.Gln35His)	CCR1 (Q35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027098	NM_001295.3(CCR1):c.54T>C (p.Tyr18=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653731	NM_001295.3(CCR1):c.858G>A (p.Thr286=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560024	NM_001295.3(CCR1):c.544A>T (p.Thr182Ser)	CCR1 (T182S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540956	NM_001295.3(CCR1):c.955C>G (p.Arg319Gly)	CCR1 (R319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530757	NM_001295.3(CCR1):c.674T>C (p.Ile225Thr)	CCR1 (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474860	NM_001295.3(CCR1):c.1019G>T (p.Ser340Ile)	CCR1 (S340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 2395314	NM_001295.3(CCR1):c.938G>A (p.Arg313Gln)	CCR1 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253795	NM_001295.3(CCR1):c.257C>T (p.Thr86Met)	CCR1 (T86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229767	NM_001295.3(CCR1):c.742T>G (p.Phe248Val)	CCR1 (F248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222862	NM_001295.3(CCR1):c.299T>C (p.Val100Ala)	CCR1 (V100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208121	NM_001295.3(CCR1):c.109C>A (p.Leu37Met)	CCR1 (L37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 791924	NM_001295.3(CCR1):c.381G>A (p.Leu127=)	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 775865	NM_001295.3(CCR1):c.1067G>A (p.Ter356=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771853	NM_001295.3(CCR1):c.903C>T (p.Tyr301=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 726052	NM_001295.3(CCR1):c.996C>T (p.Ser332=)	CCR1	Single nucleotide variant (synonymous 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 713779	NM_001295.3(CCR1):c.476C>T (p.Ala159Val)	CCR1 (A159V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 708388	NM_001295.3(CCR1):c.1014G>A (p.Arg338=)	CCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395576	GRCh37/hg19 3p21.31(chr3:46243839-46307968)x3	CCR1, CCR3	Copy number gain	See cases	GLikely benign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 145538	GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3	CCR1, CCR3 +23 more	Copy number gain	See cases	GLikely benign
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37