OR10Q1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 2379514	NM_001004471.2(OR10Q1):c.934C>T (p.Arg312Cys)	OR10Q1 (R312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569180	NM_001004471.2(OR10Q1):c.917T>C (p.Leu306Pro)	OR10Q1 (L306P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244157	NM_001004471.2(OR10Q1):c.898A>G (p.Lys300Glu)	OR10Q1 (K300E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302440	NM_001004471.2(OR10Q1):c.880C>A (p.Leu294Ile)	OR10Q1 (L294I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306456	NM_001004471.2(OR10Q1):c.824A>T (p.Glu275Val)	OR10Q1 (E275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204625	NM_001004471.2(OR10Q1):c.797G>A (p.Arg266His)	OR10Q1 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204624	NM_001004471.2(OR10Q1):c.767A>C (p.Gln256Pro)	OR10Q1 (Q256P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611232	NM_001004471.2(OR10Q1):c.748C>A (p.Leu250Ile)	OR10Q1 (L250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522605	NM_001004471.2(OR10Q1):c.736T>C (p.Cys246Arg)	OR10Q1 (C246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260551	NM_001004471.2(OR10Q1):c.704C>G (p.Ser235Cys)	OR10Q1 (S235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286714	NM_001004471.2(OR10Q1):c.701G>A (p.Arg234His)	OR10Q1 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204623	NM_001004471.2(OR10Q1):c.650T>C (p.Leu217Pro)	OR10Q1 (L217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330672	NM_001004471.2(OR10Q1):c.601C>G (p.Gln201Glu)	OR10Q1 (Q201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302441	NM_001004471.2(OR10Q1):c.593G>A (p.Arg198His)	OR10Q1 (R198H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612899	NM_001004471.2(OR10Q1):c.577G>T (p.Ala193Ser)	OR10Q1 (A193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531909	NM_001004471.2(OR10Q1):c.560C>T (p.Pro187Leu)	OR10Q1 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272991	NM_001004471.2(OR10Q1):c.551G>T (p.Cys184Phe)	OR10Q1 (C184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303985	NM_001004471.2(OR10Q1):c.547C>A (p.Leu183Ile)	OR10Q1 (L183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331881	NM_001004471.2(OR10Q1):c.488T>C (p.Leu163Pro)	OR10Q1 (L163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221070	NM_001004471.2(OR10Q1):c.466G>C (p.Ala156Pro)	OR10Q1 (A156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293256	NM_001004471.2(OR10Q1):c.444G>A (p.Met148Ile)	OR10Q1 (M148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204622	NM_001004471.2(OR10Q1):c.429G>C (p.Glu143Asp)	OR10Q1 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204621	NM_001004471.2(OR10Q1):c.427G>A (p.Glu143Lys)	OR10Q1 (E143K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312305	NM_001004471.2(OR10Q1):c.368C>T (p.Ala123Val)	OR10Q1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369438	NM_001004471.2(OR10Q1):c.332T>A (p.Leu111His)	OR10Q1 (L111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385640	NM_001004471.2(OR10Q1):c.307G>A (p.Ala103Thr)	OR10Q1 (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281685	NM_001004471.2(OR10Q1):c.232A>G (p.Thr78Ala)	OR10Q1 (T78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229686	NM_001004471.2(OR10Q1):c.199C>G (p.Leu67Val)	OR10Q1 (L67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514698	NM_001004471.2(OR10Q1):c.179G>A (p.Arg60His)	OR10Q1 (R60H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508221	NM_001004471.2(OR10Q1):c.113T>C (p.Leu38Pro)	OR10Q1 (L38P)	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 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 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	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: 39