ClinVar for Gene (Select 120065) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206382	NM_153444.1(OR5P2):c.926A>G (p.Asp309Gly)	OR5P2 (D309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206380	NM_153444.1(OR5P2):c.80G>A (p.Arg27Gln)	OR5P2 (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206379	NM_153444.1(OR5P2):c.754A>C (p.Thr252Pro)	OR5P2 (T252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206378	NM_153444.1(OR5P2):c.61A>G (p.Thr21Ala)	OR5P2 (T21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596448	NM_153444.1(OR5P2):c.266C>T (p.Ser89Phe)	OR5P2 (S89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553855	NM_153444.1(OR5P2):c.566G>T (p.Ser189Ile)	OR5P2 (S189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544797	NM_153444.1(OR5P2):c.866G>A (p.Arg289Lys)	OR5P2 (R289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509742	NM_153444.1(OR5P2):c.278G>A (p.Cys93Tyr)	OR5P2 (C93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2400659	NM_153444.1(OR5P2):c.379C>T (p.Leu127Phe)	OR5P2 (L127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397162	NM_153444.1(OR5P2):c.233T>C (p.Leu78Pro)	OR5P2 (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375926	NM_153444.1(OR5P2):c.398C>T (p.Ser133Phe)	OR5P2 (S133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348424	NM_153444.1(OR5P2):c.31G>T (p.Ala11Ser)	OR5P2 (A11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328899	NM_153444.1(OR5P2):c.46A>T (p.Ile16Phe)	OR5P2 (I16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307895	NM_153444.1(OR5P2):c.575C>T (p.Thr192Ile)	OR5P2 (T192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256311	NM_153444.1(OR5P2):c.56G>A (p.Gly19Asp)	OR5P2 (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221203	NM_153444.1(OR5P2):c.679A>T (p.Thr227Ser)	OR5P2 (T227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815408	GRCh37/hg19 11p15.4(chr11:7746883-7837000)x1	OR5P2	Copy number loss	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563863	GRCh37/hg19 11p15.4(chr11:7418934-8308834)x3	OR10A6, OR5P2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563825	GRCh37/hg19 11p15.4(chr11:7797256-7982842)x1	OR10A6, OR5P2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic
Select item 154636	GRCh38/hg38 11p15.4(chr11:7795944-7825502)x1	OR5P2, OR5P3	Copy number loss	See cases	GBenign
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 147601	GRCh38/hg38 11p15.4(chr11:7665298-7796490)x1	CYB5R2, LOC126861129 +8 more	Copy number loss	See cases	GBenign
Select item 147599	GRCh38/hg38 11p15.4(chr11:7795944-7872826)x1	LOC283299, OR5P2 +1 more	Copy number loss	See cases	GBenign
Select item 147596	GRCh38/hg38 11p15.4(chr11:7691246-7796490)x1	LOC126861129, LOC126861130 +3 more	Copy number loss	See cases	GBenign
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39