ClinVar for Gene (Select 390155) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303256	NM_001004745.2(OR5T1):c.289T>C (p.Phe97Leu)	OR5T1 (F97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303255	NM_001004745.2(OR5T1):c.953T>C (p.Val318Ala)	OR5T1 (V318A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303254	NM_001004745.2(OR5T1):c.460G>A (p.Val154Met)	OR5T1 (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206395	NM_001004745.2(OR5T1):c.67A>G (p.Met23Val)	OR5T1 (M23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206394	NM_001004745.2(OR5T1):c.593C>T (p.Ala198Val)	OR5T1 (A198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206393	NM_001004745.2(OR5T1):c.564T>A (p.His188Gln)	OR5T1 (H188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206391	NM_001004745.2(OR5T1):c.551A>G (p.Asn184Ser)	OR5T1 (N184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206390	NM_001004745.2(OR5T1):c.376C>A (p.Leu126Ile)	OR5T1 (L126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206389	NM_001004745.2(OR5T1):c.365C>T (p.Thr122Ile)	OR5T1 (T122I)	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 2568973	NM_001004745.2(OR5T1):c.500A>G (p.His167Arg)	OR5T1 (H167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535352	NM_001004745.2(OR5T1):c.610A>G (p.Thr204Ala)	OR5T1 (T204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483896	NM_001004745.2(OR5T1):c.244G>A (p.Asp82Asn)	OR5T1 (D82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482710	NM_001004745.2(OR5T1):c.667A>G (p.Ile223Val)	OR5T1 (I223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390750	NM_001004745.2(OR5T1):c.215A>G (p.Tyr72Cys)	OR5T1 (Y72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385072	NM_001004745.2(OR5T1):c.839C>T (p.Ser280Leu)	OR5T1 (S280L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365259	NM_001004745.2(OR5T1):c.727G>A (p.Ala243Thr)	OR5T1 (A243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350783	NM_001004745.2(OR5T1):c.706G>T (p.Ala236Ser)	OR5T1 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338241	NM_001004745.2(OR5T1):c.704T>G (p.Leu235Trp)	OR5T1 (L235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302396	NM_001004745.2(OR5T1):c.661G>T (p.Val221Phe)	OR5T1 (V221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299559	NM_001004745.2(OR5T1):c.809T>G (p.Met270Arg)	OR5T1 (M270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292386	NM_001004745.2(OR5T1):c.809T>A (p.Met270Lys)	OR5T1 (M270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267122	NM_001004745.2(OR5T1):c.914G>A (p.Arg305Gln)	OR5T1 (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261775	NM_001004745.2(OR5T1):c.761G>C (p.Gly254Ala)	OR5T1 (G254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253441	NM_001004745.2(OR5T1):c.673A>T (p.Ile225Phe)	OR5T1 (I225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213740	NM_001004745.2(OR5T1):c.24G>A (p.Met8Ile)	OR5T1 (M8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211958	NM_001004745.2(OR5T1):c.283G>A (p.Val95Ile)	OR5T1 (V95I)	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 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 145380	GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3	LOC126861207, MIR6128 +23 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

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Links from Gene

Items: 40