ClinVar for Gene (Select 1266) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268156	NM_001839.5(CNN3):c.808C>T (p.Pro270Ser)	CNN3 (P229S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146533	NM_001839.5(CNN3):c.803A>G (p.Tyr268Cys)	CNN3 (Y222C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146532	NM_001839.5(CNN3):c.688G>A (p.Asp230Asn)	CNN3 (D184N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146531	NM_001839.5(CNN3):c.658T>G (p.Leu220Val)	CNN3 (L174V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2606651	NM_001839.5(CNN3):c.292A>G (p.Met98Val)	CNN3 (M57V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528997	NM_001839.5(CNN3):c.484A>G (p.Ser162Gly)	CNN3 (S116G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521239	NM_001839.5(CNN3):c.46G>A (p.Val16Ile)	CNN3, CNN3-DT +1 more (V16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512677	NM_001839.5(CNN3):c.587A>G (p.Asp196Gly)	CNN3 (D150G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488022	NM_001839.5(CNN3):c.931G>A (p.Glu311Lys)	CNN3 (E311K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259797	NM_001839.5(CNN3):c.958T>C (p.Tyr320His)	CNN3 (Y320H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1073069	NC_000001.10:g.(?_94458793)_(95538454_?)del	CNN3, ABCA4 +5 more	Deletion	not provided	GPathogenic
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic