OR4C12[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153449	GRCh38/hg38 11p11.12(chr11:48946095-50560016)x1	OR4C13, OR4C45 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2225098	NM_001005270.4(OR4C12):c.910G>A (p.Val304Met)	OR4C12 (V304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205436	NM_001005270.4(OR4C12):c.809C>G (p.Ala270Gly)	OR4C12 (A270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218775	NM_001005270.4(OR4C12):c.794T>C (p.Ile265Thr)	OR4C12 (I265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315642	NM_001005270.4(OR4C12):c.748G>A (p.Val250Met)	OR4C12 (V250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362802	NM_001005270.4(OR4C12):c.734T>C (p.Val245Ala)	OR4C12 (V245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409075	NM_001005270.4(OR4C12):c.725T>A (p.Ile242Asn)	OR4C12 (I242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597725	NM_001005270.4(OR4C12):c.693G>T (p.Arg231Ser)	OR4C12 (R231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309558	NM_001005270.4(OR4C12):c.676A>T (p.Asn226Tyr)	OR4C12 (N226Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402048	NM_001005270.4(OR4C12):c.653T>A (p.Ile218Asn)	OR4C12 (I218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205434	NM_001005270.4(OR4C12):c.580G>C (p.Gly194Arg)	OR4C12 (G194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305997	NM_001005270.4(OR4C12):c.557T>C (p.Val186Ala)	OR4C12 (V186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241858	NM_001005270.4(OR4C12):c.528G>C (p.Met176Ile)	OR4C12 (M176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205433	NM_001005270.4(OR4C12):c.527T>C (p.Met176Thr)	OR4C12 (M176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205432	NM_001005270.4(OR4C12):c.434T>C (p.Val145Ala)	OR4C12 (V145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205430	NM_001005270.4(OR4C12):c.296C>T (p.Ala99Val)	OR4C12 (A99V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271276	NM_001005270.4(OR4C12):c.293A>C (p.Gln98Pro)	OR4C12 (Q98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218401	NM_001005270.4(OR4C12):c.257A>G (p.Glu86Gly)	OR4C12 (E86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302848	NM_001005270.4(OR4C12):c.170T>C (p.Met57Thr)	OR4C12 (M57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302847	NM_001005270.4(OR4C12):c.154G>T (p.Ala52Ser)	OR4C12 (A52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161484	NM_001005270.4(OR4C12):c.74C>T (p.Thr25Met)	OR4C12 (T25M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3205431	NM_001005270.4(OR4C12):c.30C>A (p.Phe10Leu)	OR4C12 (F10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245210	NM_001005270.4(OR4C12):c.29T>C (p.Phe10Ser)	OR4C12 (F10S)	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 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 442583	GRCh37/hg19 11p11.12(chr11:49150738-50608809)x3	FOLH1, OR4C12 +1 more	Copy number gain	See cases	GLikely benign
Select item 442361	GRCh37/hg19 11p11.12(chr11:49604582-50596467)x3	OR4C12, OR4C13	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 157204	Single allele	OR4C12	Duplication	Preeclampsia	Gnot provided

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Items: 32