ClinVar for Gene (Select 79473) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303113	NM_001001913.2(OR52N1):c.238C>G (p.Leu80Val)	OR52N1 (L80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303112	NM_001001913.2(OR52N1):c.223A>G (p.Met75Val)	OR52N1 (M75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206014	NM_001001913.2(OR52N1):c.779C>T (p.Thr260Ile)	OR52N1 (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206013	NM_001001913.2(OR52N1):c.709C>G (p.Gln237Glu)	OR52N1 (Q237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206012	NM_001001913.2(OR52N1):c.61G>C (p.Gly21Arg)	OR52N1 (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206011	NM_001001913.2(OR52N1):c.20C>A (p.Thr7Asn)	OR52N1 (T7N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606483	NM_001001913.2(OR52N1):c.667A>G (p.Ile223Val)	OR52N1 (I223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596851	NM_001001913.2(OR52N1):c.17G>A (p.Gly6Asp)	OR52N1 (G6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516781	NM_001001913.2(OR52N1):c.874C>A (p.Pro292Thr)	OR52N1 (P292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2495260	NM_001001913.2(OR52N1):c.276G>C (p.Lys92Asn)	OR52N1 (K92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396360	NM_001001913.2(OR52N1):c.392C>G (p.Pro131Arg)	OR52N1 (P131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355616	NM_001001913.2(OR52N1):c.146A>G (p.Tyr49Cys)	OR52N1 (Y49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351315	NM_001001913.2(OR52N1):c.457A>G (p.Arg153Gly)	OR52N1 (R153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315551	NM_001001913.2(OR52N1):c.228C>G (p.Cys76Trp)	OR52N1 (C76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297018	NM_001001913.2(OR52N1):c.803G>A (p.Gly268Glu)	OR52N1 (G268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269120	NM_001001913.2(OR52N1):c.461G>A (p.Gly154Asp)	OR52N1 (G154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240454	NM_001001913.2(OR52N1):c.212C>A (p.Thr71Lys)	OR52N1 (T71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980413	GRCh37/hg19 11p15.4(chr11:5642000-5853662)x1	OR52N5, OR56B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 36