OR5AS1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 161063	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 146609	GRCh38/hg38 11q12.1(chr11:55936260-56048836)x1	OR10AG1, OR5AS1 +2 more	Copy number loss	See cases	GBenign
Select item 145747	GRCh38/hg38 11q12.1(chr11:55973062-56053540)x1	OR5AS1, OR5F1	Copy number loss	See cases	GBenign
Select item 145745	GRCh38/hg38 11q12.1(chr11:55973062-56053540)x3	OR5AS1, OR5F1	Copy number gain	See cases	GBenign
Select item 2279926	NM_001001921.2(OR5AS1):c.25C>T (p.Pro9Ser)	OR5AS1 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496472	NM_001001921.2(OR5AS1):c.59A>G (p.Tyr20Cys)	OR5AS1 (Y20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526377	NM_001001921.2(OR5AS1):c.161G>A (p.Ser54Asn)	OR5AS1 (S54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303147	NM_001001921.2(OR5AS1):c.213C>G (p.Ile71Met)	OR5AS1 (I71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621306	NM_001001921.2(OR5AS1):c.244C>A (p.Leu82Met)	OR5AS1 (L82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248650	NM_001001921.2(OR5AS1):c.259G>A (p.Ala87Thr)	OR5AS1 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570116	NM_001001921.2(OR5AS1):c.272G>A (p.Ser91Asn)	OR5AS1 (S91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307021	NM_001001921.2(OR5AS1):c.277T>C (p.Ser93Pro)	OR5AS1 (S93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554207	NM_001001921.2(OR5AS1):c.283T>C (p.Tyr95His)	OR5AS1 (Y95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204559	NM_001001921.2(OR5AS1):c.323C>T (p.Ala108Val)	OR5AS1 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399370	NM_001001921.2(OR5AS1):c.364C>G (p.Arg122Gly)	OR5AS1 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206124	NM_001001921.2(OR5AS1):c.401C>T (p.Thr134Ile)	OR5AS1 (T134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206125	NM_001001921.2(OR5AS1):c.430T>C (p.Phe144Leu)	OR5AS1 (F144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221303	NM_001001921.2(OR5AS1):c.442G>A (p.Ala148Thr)	OR5AS1 (A148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206126	NM_001001921.2(OR5AS1):c.490T>C (p.Phe164Leu)	OR5AS1 (F164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206127	NM_001001921.2(OR5AS1):c.518T>A (p.Ile173Asn)	OR5AS1 (I173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241978	NM_001001921.2(OR5AS1):c.521T>G (p.Val174Gly)	OR5AS1 (V174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206128	NM_001001921.2(OR5AS1):c.733C>A (p.Leu245Ile)	OR5AS1 (L245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206129	NM_001001921.2(OR5AS1):c.734T>G (p.Leu245Arg)	OR5AS1 (L245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206130	NM_001001921.2(OR5AS1):c.757G>A (p.Gly253Arg)	OR5AS1 (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227608	NM_001001921.2(OR5AS1):c.761C>T (p.Ala254Val)	OR5AS1 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329882	NM_001001921.2(OR5AS1):c.800C>T (p.Ser267Phe)	OR5AS1 (S267F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594842	NM_001001921.2(OR5AS1):c.816G>T (p.Lys272Asn)	OR5AS1 (K272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213753	NM_001001921.2(OR5AS1):c.817G>A (p.Val273Met)	OR5AS1 (V273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474372	NM_001001921.2(OR5AS1):c.826G>C (p.Val276Leu)	OR5AS1 (V276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206131	NM_001001921.2(OR5AS1):c.953G>A (p.Arg318His)	OR5AS1 (R318H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	GUncertain significance
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 395409	GRCh37/hg19 11q11-12.1(chr11:55033164-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 395111	GRCh37/hg19 11q11-12.1(chr11:55029738-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign

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Items: 47