729230[geneid] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 3061928	NM_001123396.4(CCR2):c.59_60insAC (p.Thr21fs)	CCR2 (T21fs)	Insertion (frameshift variant)	Cystic disease of lung	GPathogenic
Select item 2490762	NM_001123396.4(CCR2):c.72T>A (p.Phe24Leu)	CCR2 (F24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562202	NM_001123396.4(CCR2):c.75T>A (p.Asp25Glu)	CCR2 (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326850	NM_001123396.4(CCR2):c.142C>T (p.Leu48Phe)	CCR2 (L48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714233	NM_001123396.4(CCR2):c.156G>T (p.Val52=)	CCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3061926	NM_001123396.4(CCR2):c.182T>G (p.Met61Arg)	CCR2 (M61R)	Single nucleotide variant (missense variant)	Cystic disease of lung	GPathogenic
Select item 759751	NM_001123396.4(CCR2):c.189C>T (p.Val63=)	CCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8267	NM_001123396.4(CCR2):c.190G>A (p.Val64Ile)	CCR2 (V64I)	Single nucleotide variant (missense variant)	CCR2-related disorder	GBenign
Select item 3061929	NM_001123396.4(CCR2):c.356T>G (p.Leu119Arg)	CCR2 (L119R)	Single nucleotide variant (missense variant)	Cystic disease of lung	GPathogenic
Select item 733880	NM_001123396.4(CCR2):c.378C>T (p.Gly126=)	CCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211225	NM_001123396.4(CCR2):c.397C>T (p.Leu133Phe)	CCR2 (L133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140075	NM_001123396.4(CCR2):c.470G>A (p.Gly157Glu)	CCR2 (G157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264638	NM_001123396.4(CCR2):c.548A>G (p.Lys183Arg)	CCR2 (K183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140076	NM_001123396.4(CCR2):c.587G>A (p.Arg196Gln)	CCR2 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403790	NM_001123396.4(CCR2):c.615G>A (p.Met205Ile)	CCR2 (M205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527044	NM_001123396.4(CCR2):c.628G>A (p.Gly210Arg)	CCR2 (G210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061925	NM_001123396.4(CCR2):c.641_646del (p.Pro214_Leu215del)	CCR2	Deletion (inframe_deletion)	Cystic disease of lung	GPathogenic
Select item 3042378	NM_001123396.4(CCR2):c.648C>T (p.Leu216=)	CCR2	Single nucleotide variant (synonymous variant)	CCR2-related disorder	GLikely benign
Select item 2283538	NM_001123396.4(CCR2):c.655G>A (p.Val219Ile)	CCR2 (V219I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140077	NM_001123396.4(CCR2):c.688C>T (p.Leu230Phe)	CCR2 (L230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059948	NM_001123396.4(CCR2):c.780T>C (p.Asn260=)	CCR2	Single nucleotide variant (synonymous variant)	CCR2-related disorder	GBenign
Select item 2238428	NM_001123396.4(CCR2):c.781A>G (p.Ile261Val)	CCR2 (I261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052543	NM_001123396.4(CCR2):c.849G>T (p.Leu283=)	CCR2	Single nucleotide variant (synonymous variant)	CCR2-related disorder	GLikely benign
Select item 3061927	NM_001123396.4(CCR2):c.887C>A (p.Thr296Asn)	CCR2 (T296N)	Single nucleotide variant (missense variant)	Cystic disease of lung	GPathogenic
Select item 625907	NM_001123396.4(CCR2):c.1043C>T (p.Thr348Met)	CCR2 (T348M)	Single nucleotide variant (missense variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 3060753	NM_001123396.4(CCR2):c.1044G>A (p.Thr348=)	CCR2	Single nucleotide variant (synonymous variant +1 more)	CCR2-related disorder	GBenign
Select item 625906	NM_001123396.4(CCR2):c.*1179G>A	CCR2 (D352N)	Single nucleotide variant (missense variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 3038731	NM_001123396.4(CCR2):c.*1189G>A	CCR2 (G355E)	Single nucleotide variant (missense variant +1 more)	CCR2-related disorder	GBenign
Select item 2403754	NM_001123396.4(CCR2):c.*1198A>G	CCR2 (K358R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269225	NM_001123396.4(CCR2):c.*1218G>A	CCR2 (E365K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140074	NM_001123396.4(CCR2):c.*1243G>C	CCR2 (G373A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	CCR1, CCR2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	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 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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 38