OR5AN1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206101	NM_001004729.2(OR5AN1):c.17A>G (p.Asn6Ser)	OR5AN1 (N6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514661	NM_001004729.2(OR5AN1):c.56C>T (p.Ser19Leu)	OR5AN1 (S19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206105	NM_001004729.2(OR5AN1):c.82C>A (p.Leu28Ile)	OR5AN1 (L28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206102	NM_001004729.2(OR5AN1):c.320C>T (p.Thr107Met)	OR5AN1 (T107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547384	NM_001004729.2(OR5AN1):c.356T>C (p.Met119Thr)	OR5AN1 (M119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396276	NM_001004729.2(OR5AN1):c.403T>C (p.Ser135Pro)	OR5AN1 (S135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617121	NM_001004729.2(OR5AN1):c.502C>G (p.His168Asp)	OR5AN1 (H168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206104	NM_001004729.2(OR5AN1):c.559A>T (p.Ile187Phe)	OR5AN1 (I187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487909	NM_001004729.2(OR5AN1):c.559A>C (p.Ile187Leu)	OR5AN1 (I187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245683	NM_001004729.2(OR5AN1):c.650T>C (p.Ile217Thr)	OR5AN1 (I217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277613	NM_001004729.2(OR5AN1):c.656A>T (p.Tyr219Phe)	OR5AN1 (Y219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303145	NM_001004729.2(OR5AN1):c.704G>C (p.Arg235Thr)	OR5AN1 (R235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599142	NM_001004729.2(OR5AN1):c.706T>G (p.Ser236Ala)	OR5AN1 (S236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306751	NM_001004729.2(OR5AN1):c.906A>T (p.Leu302Phe)	OR5AN1 (L302F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362938	NM_001004729.2(OR5AN1):c.908A>G (p.Lys303Arg)	OR5AN1 (K303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206106	NM_001004729.2(OR5AN1):c.923G>C (p.Arg308Thr)	OR5AN1 (R308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 25