OR11A1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 2623931	NM_001394828.1(OR11A1):c.907C>G (p.Arg303Gly)	OR11A1 (R303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399947	NM_001394828.1(OR11A1):c.907C>T (p.Arg303Trp)	OR11A1 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329071	NM_001394828.1(OR11A1):c.895C>T (p.His299Tyr)	OR11A1 (H299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259016	NM_001394828.1(OR11A1):c.871T>G (p.Tyr291Asp)	OR11A1 (Y291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588002	NM_001394828.1(OR11A1):c.812T>C (p.Leu271Pro)	OR11A1 (L271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400983	NM_001394828.1(OR11A1):c.727T>G (p.Ser243Ala)	OR11A1 (S243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247538	NM_001394828.1(OR11A1):c.695G>A (p.Gly232Glu)	OR11A1 (G232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204923	NM_001394828.1(OR11A1):c.421C>T (p.Arg141Trp)	OR11A1 (R141W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520543	NM_001394828.1(OR11A1):c.400C>A (p.Pro134Thr)	OR11A1 (P134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329690	NM_001394828.1(OR11A1):c.233C>T (p.Ala78Val)	OR11A1 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286032	NM_001394828.1(OR11A1):c.175A>G (p.Lys59Glu)	OR11A1 (K59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469678	NM_001394828.1(OR11A1):c.85T>C (p.Phe29Leu)	OR11A1 (F29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301646	NM_001394828.1(OR11A1):c.62A>T (p.Asp21Val)	OR11A1 (D21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204493	NM_013941.4(OR10C1):c.81C>A (p.Phe27Leu)	OR10C1, OR11A1 (F27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204484	NM_013941.4(OR10C1):c.134T>C (p.Val45Ala)	OR10C1, OR11A1 (V45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388744	NM_013941.4(OR10C1):c.148A>G (p.Thr50Ala)	OR10C1, OR11A1 (T50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281987	NM_013941.4(OR10C1):c.218C>A (p.Thr73Lys)	OR10C1, OR11A1 (T73K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204485	NM_013941.4(OR10C1):c.262C>T (p.Arg88Trp)	OR10C1, OR11A1 (R88W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460312	NM_013941.4(OR10C1):c.263G>A (p.Arg88Gln)	OR10C1, OR11A1 (R88Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476473	NM_013941.4(OR10C1):c.323C>A (p.Ala108Asp)	OR10C1, OR11A1 (A108D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624352	NM_013941.4(OR10C1):c.326C>A (p.Thr109Lys)	OR10C1, OR11A1 (T109K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269997	NM_013941.4(OR10C1):c.337C>T (p.Leu113Phe)	OR10C1, OR11A1 (L113F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656320	NM_013941.4(OR10C1):c.411C>T (p.His137=)	OR10C1, OR11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2358351	NM_013941.4(OR10C1):c.470G>T (p.Gly157Val)	OR10C1, OR11A1 (G157V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363179	NM_013941.4(OR10C1):c.473A>G (p.His158Arg)	OR10C1, OR11A1 (H158R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204486	NM_013941.4(OR10C1):c.577C>T (p.Leu193Phe)	OR10C1, OR11A1 (L193F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204488	NM_013941.4(OR10C1):c.608C>T (p.Ala203Val)	OR10C1, OR11A1 (A203V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204489	NM_013941.4(OR10C1):c.656G>A (p.Arg219His)	OR10C1, OR11A1 (R219H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204490	NM_013941.4(OR10C1):c.677G>T (p.Arg226Leu)	OR10C1, OR11A1 (R226L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204492	NM_013941.4(OR10C1):c.697C>T (p.Arg233Cys)	OR10C1, OR11A1 (R233C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204491	NM_013941.4(OR10C1):c.697C>A (p.Arg233Ser)	OR10C1, OR11A1 (R233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299777	NM_013941.4(OR10C1):c.713C>G (p.Ser238Cys)	OR10C1, OR11A1 (S238C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292818	NM_013941.4(OR10C1):c.758C>T (p.Thr253Ile)	OR10C1, OR11A1 (T253I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385553	NM_013941.4(OR10C1):c.811C>A (p.Pro271Thr)	OR10C1, OR11A1 (P271T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204494	NM_013941.4(OR10C1):c.826T>A (p.Phe276Ile)	OR10C1, OR11A1 (F276I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393961	NM_013941.4(OR10C1):c.835G>A (p.Val279Met)	OR10C1, OR11A1 (V279M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207925	NM_013941.4(OR10C1):c.857C>A (p.Pro286His)	OR11A1, OR10C1 (P286H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557129	NM_013941.4(OR10C1):c.860T>A (p.Ile287Asn)	OR10C1, OR11A1 (I287N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484913	NM_013941.4(OR10C1):c.904A>G (p.Arg302Gly)	OR10C1, OR11A1 (R302G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204496	NM_013941.4(OR10C1):c.920C>T (p.Thr307Met)	OR10C1, OR11A1 (T307M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 780982	NM_013941.4(OR10C1):c.929T>G (p.Met310Arg)	OR10C1, OR11A1 (M310R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 49