OR4C3[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 58161	GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3	FNBP4, LOC111464990 +29 more	Copy number gain	See cases	GUncertain significance
Select item 150629	GRCh38/hg38 11p11.2-11.12(chr11:47992987-49135735)x3	LOC111464990, LOC112081399 +18 more	Copy number gain	See cases	GUncertain significance
Select item 148872	GRCh38/hg38 11p11.2(chr11:47992987-48761561)x3	OR4A47, OR4B1 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 149097	GRCh38/hg38 11p11.2(chr11:48067028-48761561)x3	MIR3161, OR4A47 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151273	GRCh38/hg38 11p11.2(chr11:48110126-48623909)x3	OR4A47, OR4B1 +6 more	Copy number gain	See cases	GLikely benign
Select item 3257655	NM_001004702.2(OR4C3):c.96C>T (p.Ile32=)	OR4C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067279	NM_001004702.2(OR4C3):c.570G>A (p.Thr190=)	OR4C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809063	GRCh37/hg19 11p11.2(chr11:48136888-48373316)x1	OR4B1, OR4C3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808314	GRCh37/hg19 11p11.2(chr11:48144224-48640722)x3	OR4A47, OR4B1 +5 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 1527642	GRCh37/hg19 11p11.2-11.12(chr11:47711244-48976284)	AGBL2, FNBP4 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1340558	GRCh37/hg19 11p11.2(chr11:48072297-48658135)x3	OR4A47, OR4B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979919	GRCh37/hg19 11p11.2-11.12(chr11:48242702-49562051)x3	TRIM49B, OR4C3 +6 more	Copy number gain	not provided	GLikely benign
Select item 979914	GRCh37/hg19 11p11.2(chr11:48247992-48664038)x3	OR4X1, OR4X2 +3 more	Copy number gain	not provided	GLikely benign
Select item 563867	GRCh37/hg19 11p11.2-11.12(chr11:47720039-48891877)x3	OR4S1, NUP160 +8 more	Copy number gain	not provided	GLikely benign
Select item 563864	GRCh37/hg19 11p11.2-11.12(chr11:48116066-49170890)x3	OR4X1, TRIM49B +8 more	Copy number gain	not provided	GLikely benign
Select item 563861	GRCh37/hg19 11p11.2-11.12(chr11:48065950-48893177)x3	OR4S1, OR4B1 +5 more	Copy number gain	not provided	GLikely benign
Select item 563855	GRCh37/hg19 11p11.2(chr11:47773563-48403235)x3	OR4B1, OR4C3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443849	GRCh37/hg19 11p11.2-11.12(chr11:48095885-48913631)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 443530	GRCh37/hg19 11p11.2-11.12(chr11:48149532-49434855)x3	FOLH1, OR4A47 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442669	GRCh37/hg19 11p11.2-11.12(chr11:48087005-48925590)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 442625	GRCh37/hg19 11p11.2-11.12(chr11:48086949-48925789)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 442349	GRCh37/hg19 11p11.2-11.12(chr11:48116086-48913631)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign
Select item 442312	GRCh37/hg19 11p11.2(chr11:48007046-48721752)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442286	GRCh37/hg19 11p11.2-11.12(chr11:47748831-48985791)x3	OR4X2, PTPRJ +7 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
Select item 393989	GRCh37/hg19 11p11.2(chr11:48044621-48588884)x3	OR4A47, OR4B1 +5 more	Copy number gain	See cases	GLikely benign

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Items: 34