OR4A5[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619199	NM_001005272.3(OR4A5):c.97T>A (p.Tyr33Asn)	OR4A5 (Y33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212874	NM_001005272.3(OR4A5):c.120C>A (p.Asn40Lys)	OR4A5 (N40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459604	NM_001005272.3(OR4A5):c.137A>T (p.Asp46Val)	OR4A5 (D46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205400	NM_001005272.3(OR4A5):c.158T>G (p.Leu53Trp)	OR4A5 (L53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205401	NM_001005272.3(OR4A5):c.182T>C (p.Leu61Pro)	OR4A5 (L61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205402	NM_001005272.3(OR4A5):c.287T>C (p.Met96Thr)	OR4A5 (M96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205403	NM_001005272.3(OR4A5):c.288G>T (p.Met96Ile)	OR4A5 (M96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205404	NM_001005272.3(OR4A5):c.290G>A (p.Gly97Asp)	OR4A5 (G97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601778	NM_001005272.3(OR4A5):c.313T>C (p.Phe105Leu)	OR4A5 (F105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542614	NM_001005272.3(OR4A5):c.313T>A (p.Phe105Ile)	OR4A5 (F105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641783	NM_001005272.3(OR4A5):c.318T>G (p.Gly106=)	OR4A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266015	NM_001005272.3(OR4A5):c.320G>C (p.Gly107Ala)	OR4A5 (G107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331538	NM_001005272.3(OR4A5):c.327G>T (p.Glu109Asp)	OR4A5 (E109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641782	NM_001005272.3(OR4A5):c.360C>T (p.Arg120=)	OR4A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3205405	NM_001005272.3(OR4A5):c.449G>C (p.Gly150Ala)	OR4A5 (G150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366868	NM_001005272.3(OR4A5):c.464C>T (p.Ala155Val)	OR4A5 (A155V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205407	NM_001005272.3(OR4A5):c.511A>G (p.Ile171Val)	OR4A5 (I171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205408	NM_001005272.3(OR4A5):c.534G>A (p.Met178Ile)	OR4A5 (M178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616288	NM_001005272.3(OR4A5):c.538C>G (p.Pro180Ala)	OR4A5 (P180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257781	NM_001005272.3(OR4A5):c.539C>T (p.Pro180Leu)	OR4A5 (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245343	NM_001005272.3(OR4A5):c.551T>C (p.Leu184Pro)	OR4A5 (L184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205409	NM_001005272.3(OR4A5):c.553G>A (p.Ala185Thr)	OR4A5 (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205410	NM_001005272.3(OR4A5):c.578G>A (p.Gly193Asp)	OR4A5 (G193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205411	NM_001005272.3(OR4A5):c.589G>A (p.Val197Ile)	OR4A5 (V197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496566	NM_001005272.3(OR4A5):c.613A>G (p.Met205Val)	OR4A5 (M205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205412	NM_001005272.3(OR4A5):c.637A>G (p.Ile213Val)	OR4A5 (I213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301193	NM_001005272.3(OR4A5):c.688A>T (p.Arg230Trp)	OR4A5 (R230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483964	NM_001005272.3(OR4A5):c.704C>T (p.Ser235Phe)	OR4A5 (S235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230891	NM_001005272.3(OR4A5):c.727G>A (p.Val243Ile)	OR4A5 (V243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297040	NM_001005272.3(OR4A5):c.766G>T (p.Val256Phe)	OR4A5 (V256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376069	NM_001005272.3(OR4A5):c.798G>T (p.Lys266Asn)	OR4A5 (K266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598141	NM_001005272.3(OR4A5):c.821T>C (p.Ile274Thr)	OR4A5 (I274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232376	NM_001005272.3(OR4A5):c.839G>A (p.Ser280Asn)	OR4A5 (S280N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294125	NM_001005272.3(OR4A5):c.844T>G (p.Leu282Val)	OR4A5 (L282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531487	NM_001005272.3(OR4A5):c.847A>T (p.Ile283Leu)	OR4A5 (I283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285579	NM_001005272.3(OR4A5):c.881C>T (p.Ala294Val)	OR4A5 (A294V)	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 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 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	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45