Related gene-specific medical variations for Gene (Select 4995) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302813	NM_002550.3(OR3A1):c.20C>G (p.Ala7Gly)	OR3A1, OR3A2 (A7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302812	NM_002550.3(OR3A1):c.695G>A (p.Arg232His)	OR3A1, OR3A2 (R232H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302811	NM_002550.3(OR3A1):c.526G>A (p.Val176Met)	OR3A1, OR3A2 (V176M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302810	NM_002550.3(OR3A1):c.397C>T (p.Leu133Phe)	OR3A1, OR3A2 (L133F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205362	NM_002550.3(OR3A1):c.776T>C (p.Ile259Thr)	OR3A1, OR3A2 (I259T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205361	NM_002550.3(OR3A1):c.754G>T (p.Ala252Ser)	OR3A1, OR3A2 (A252S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205360	NM_002550.3(OR3A1):c.685C>G (p.Leu229Val)	OR3A1, OR3A2 (L229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205359	NM_002550.3(OR3A1):c.595G>C (p.Glu199Gln)	OR3A1, OR3A2 (E199Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205358	NM_002550.3(OR3A1):c.578C>G (p.Ser193Cys)	OR3A1, OR3A2 (S193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205356	NM_002550.3(OR3A1):c.423G>C (p.Gln141His)	OR3A1, OR3A2 (Q141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205355	NM_002550.3(OR3A1):c.410C>A (p.Thr137Asn)	OR3A1, OR3A2 (T137N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205354	NM_002550.3(OR3A1):c.301C>T (p.Leu101Phe)	OR3A1, OR3A2 (L101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205352	NM_002550.3(OR3A1):c.278G>A (p.Arg93His)	OR3A1, OR3A2 (R93H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205351	NM_002550.3(OR3A1):c.260G>A (p.Arg87His)	OR3A1, OR3A2 (R87H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205350	NM_002550.3(OR3A1):c.200G>A (p.Gly67Glu)	OR3A1, OR3A2 (G67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205349	NM_002550.3(OR3A1):c.122C>T (p.Thr41Met)	OR3A1, OR3A2 (T41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647231	NM_002550.3(OR3A1):c.100T>A (p.Phe34Ile)	OR3A1, OR3A2 (F34I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647230	NM_002550.3(OR3A1):c.465T>C (p.Ala155=)	OR3A1, OR3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604684	NM_002550.3(OR3A1):c.356C>T (p.Thr119Ile)	OR3A1, OR3A2 (T119I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490799	NM_002550.3(OR3A1):c.437T>C (p.Met146Thr)	OR3A1, OR3A2 (M146T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489389	NM_002550.3(OR3A1):c.844A>T (p.Thr282Ser)	OR3A1, OR3A2 (T282S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484125	NM_002550.3(OR3A1):c.829G>T (p.Val277Phe)	OR3A1, OR3A2 (V277F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384165	NM_002550.3(OR3A1):c.802A>G (p.Thr268Ala)	OR3A1, OR3A2 (T268A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2382650	NM_002550.3(OR3A1):c.824A>G (p.Lys275Arg)	OR3A1, OR3A2 (K275R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381887	NM_002550.3(OR3A1):c.825A>C (p.Lys275Asn)	OR3A1, OR3A2 (K275N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381229	NM_002550.3(OR3A1):c.280G>T (p.Ala94Ser)	OR3A1, OR3A2 (A94S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381228	NM_002550.3(OR3A1):c.278G>T (p.Arg93Leu)	OR3A1, OR3A2 (R93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380315	NM_002550.3(OR3A1):c.271C>T (p.Arg91Cys)	OR3A1, OR3A2 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377422	NM_002550.3(OR3A1):c.49C>G (p.Leu17Val)	OR3A1, OR3A2 (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367056	NM_002550.3(OR3A1):c.533A>G (p.Asn178Ser)	OR3A1, OR3A2 (N178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326423	NM_002550.3(OR3A1):c.124G>T (p.Val42Phe)	OR3A1, OR3A2 (V42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298649	NM_002550.3(OR3A1):c.844A>G (p.Thr282Ala)	OR3A1, OR3A2 (T282A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289937	NM_002550.3(OR3A1):c.833G>A (p.Gly278Glu)	OR3A1, OR3A2 (G278E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265142	NM_002550.3(OR3A1):c.816C>A (p.Asp272Glu)	OR3A1, OR3A2 (D272E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251546	NM_002550.3(OR3A1):c.564C>G (p.Phe188Leu)	OR3A1, OR3A2 (F188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239774	NM_002550.3(OR3A1):c.868C>G (p.Pro290Ala)	OR3A1, OR3A2 (P290A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236418	NM_002550.3(OR3A1):c.391C>T (p.Arg131Trp)	OR3A1, OR3A2 (R131W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226658	NM_002550.3(OR3A1):c.473A>G (p.Asn158Ser)	OR3A1, OR3A2 (N158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226093	NM_002550.3(OR3A1):c.272G>A (p.Arg91His)	OR3A1, OR3A2 (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 777093	NM_002550.3(OR3A1):c.274A>T (p.Lys92Ter)	OR3A1, OR3A2 (K92*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 777092	NM_002550.3(OR3A1):c.524A>G (p.Asn175Ser)	OR3A1, OR3A2 (N175S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777091	NM_002550.3(OR3A1):c.541T>C (p.Tyr181His)	OR3A1, OR3A2 (Y181H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Links from Gene

Items: 42