Related gene-specific medical variations for Gene (Select 387748) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341680	NM_001005180.3(OR56B1):c.222C>T (p.Ile74=)	OR52N4, OR56B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3303132	NM_001005180.3(OR56B1):c.548T>C (p.Ile183Thr)	OR52N4, OR56B1 (I183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206063	NM_001005180.3(OR56B1):c.908A>G (p.Gln303Arg)	OR52N4, OR56B1 (Q303R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206061	NM_001005180.3(OR56B1):c.194A>C (p.Gln65Pro)	OR52N4, OR56B1 (Q65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206060	NM_001005180.3(OR56B1):c.146C>T (p.Ala49Val)	OR52N4, OR56B1 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206059	NM_001005180.3(OR56B1):c.118C>G (p.Leu40Val)	OR52N4, OR56B1 (L40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622653	NM_001005180.3(OR56B1):c.203T>C (p.Met68Thr)	OR52N4, OR56B1 (M68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612500	NM_001005180.3(OR56B1):c.875C>T (p.Pro292Leu)	OR52N4, OR56B1 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598914	NM_001005180.3(OR56B1):c.895G>C (p.Val299Leu)	OR52N4, OR56B1 (V299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569745	NM_001005180.3(OR56B1):c.952C>T (p.Leu318Phe)	OR52N4, OR56B1 (L318F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549750	NM_001005180.3(OR56B1):c.521A>G (p.Gln174Arg)	OR52N4, OR56B1 (Q174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536698	NM_001005180.3(OR56B1):c.968G>C (p.Arg323Thr)	OR52N4, OR56B1 (R323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524507	NM_001005180.3(OR56B1):c.223C>T (p.Leu75Phe)	OR52N4, OR56B1 (L75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465559	NM_001005180.3(OR56B1):c.877C>G (p.Pro293Ala)	OR52N4, OR56B1 (P293A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460519	NM_001005180.3(OR56B1):c.698C>G (p.Ser233Cys)	OR52N4, OR56B1 (S233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457453	NM_001005180.3(OR56B1):c.428C>T (p.Ser143Leu)	OR52N4, OR56B1 (S143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299188	NM_001005180.3(OR56B1):c.158T>C (p.Leu53Pro)	OR52N4, OR56B1 (L53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257963	NM_001005180.3(OR56B1):c.367A>G (p.Ile123Val)	OR52N4, OR56B1 (I123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226908	NM_001005180.3(OR56B1):c.68T>C (p.Leu23Pro)	OR52N4, OR56B1 (L23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214490	NM_001005180.3(OR56B1):c.248C>G (p.Ala83Gly)	OR56B1, OR52N4 (A83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 20