ClinVar for Gene (Select 10798) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303209	NM_006637.1(OR5I1):c.521A>G (p.Asn174Ser)	OR5I1 (N174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303208	NM_006637.1(OR5I1):c.837C>A (p.Phe279Leu)	OR5I1 (F279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303207	NM_006637.1(OR5I1):c.756C>G (p.Ile252Met)	OR5I1 (I252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206253	NM_006637.1(OR5I1):c.847T>G (p.Phe283Val)	OR5I1 (F283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206252	NM_006637.1(OR5I1):c.701G>A (p.Ser234Asn)	OR5I1 (S234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206251	NM_006637.1(OR5I1):c.667A>G (p.Ile223Val)	OR5I1 (I223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206250	NM_006637.1(OR5I1):c.640A>G (p.Ile214Val)	OR5I1 (I214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206249	NM_006637.1(OR5I1):c.234C>G (p.Asp78Glu)	OR5I1 (D78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206248	NM_006637.1(OR5I1):c.224A>G (p.Tyr75Cys)	OR5I1 (Y75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206247	NM_006637.1(OR5I1):c.155G>C (p.Arg52Thr)	OR5I1 (R52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2622692	NM_006637.1(OR5I1):c.158T>C (p.Ile53Thr)	OR5I1 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619100	NM_006637.1(OR5I1):c.670C>A (p.Leu224Ile)	OR5I1 (L224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556320	NM_006637.1(OR5I1):c.103A>T (p.Thr35Ser)	OR5I1 (T35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496150	NM_006637.1(OR5I1):c.142A>T (p.Met48Leu)	OR5I1 (M48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470467	NM_006637.1(OR5I1):c.646A>G (p.Ile216Val)	OR5I1 (I216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464819	NM_006637.1(OR5I1):c.690C>G (p.Ile230Met)	OR5I1 (I230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464344	NM_006637.1(OR5I1):c.155G>A (p.Arg52Lys)	OR5I1 (R52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392928	NM_006637.1(OR5I1):c.564A>T (p.Lys188Asn)	OR5I1 (K188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381780	NM_006637.1(OR5I1):c.494C>A (p.Ala165Asp)	OR5I1 (A165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334944	NM_006637.1(OR5I1):c.685A>C (p.Lys229Gln)	OR5I1 (K229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316534	NM_006637.1(OR5I1):c.601C>T (p.Leu201Phe)	OR5I1 (L201F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305089	NM_006637.1(OR5I1):c.466A>G (p.Met156Val)	OR5I1 (M156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302161	NM_006637.1(OR5I1):c.47T>C (p.Leu16Pro)	OR5I1 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283359	NM_006637.1(OR5I1):c.635G>A (p.Cys212Tyr)	OR5I1 (C212Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274223	NM_006637.1(OR5I1):c.337G>A (p.Glu113Lys)	OR5I1 (E113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272968	NM_006637.1(OR5I1):c.613G>A (p.Gly205Ser)	OR5I1 (G205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 146609	GRCh38/hg38 11q12.1(chr11:55936260-56048836)x1	OR10AG1, OR5AS1 +2 more	Copy number loss	See cases	GBenign
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 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 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign

ClinVar

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Germline classification

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Links from Gene

Items: 45