OR5AK2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 3206099	NM_001005323.1(OR5AK2):c.77T>C (p.Ile26Thr)	OR5AK2 (I26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490400	NM_001005323.1(OR5AK2):c.97C>T (p.Leu33Phe)	OR5AK2 (L33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371039	NM_001005323.1(OR5AK2):c.118A>G (p.Met40Val)	OR5AK2 (M40V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404370	NM_001005323.1(OR5AK2):c.184T>C (p.Phe62Leu)	OR5AK2 (F62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206098	NM_001005323.1(OR5AK2):c.199G>C (p.Ala67Pro)	OR5AK2 (A67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358838	NM_001005323.1(OR5AK2):c.349A>G (p.Met117Val)	OR5AK2 (M117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246853	NM_001005323.1(OR5AK2):c.359T>A (p.Val120Glu)	OR5AK2 (V120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508000	NM_001005323.1(OR5AK2):c.405C>G (p.Ile135Met)	OR5AK2 (I135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313558	NM_001005323.1(OR5AK2):c.437C>G (p.Ala146Gly)	OR5AK2 (A146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303144	NM_001005323.1(OR5AK2):c.461T>C (p.Ile154Thr)	OR5AK2 (I154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605558	NM_001005323.1(OR5AK2):c.578A>G (p.Asp193Gly)	OR5AK2 (D193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464343	NM_001005323.1(OR5AK2):c.624A>G (p.Ile208Met)	OR5AK2 (I208M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374887	NM_001005323.1(OR5AK2):c.785C>T (p.Ser262Phe)	OR5AK2 (S262F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375826	NM_001005323.1(OR5AK2):c.860C>A (p.Pro287His)	OR5AK2 (P287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206100	NM_001005323.1(OR5AK2):c.912A>G (p.Ile304Met)	OR5AK2 (I304M)	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 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	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 624542	GRCh37/hg19 11q12.1(chr11:56641835-56771165)x3	OR5AK2	Copy number gain	not provided	GLikely benign
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

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Items: 30