403253[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 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	LOC111464990, LOC112081399 +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 223123	NC_000011.10:g.(?_48359351)_(48946475_?)del	OR4A47, OR4C5	Deletion	Autism spectrum disorder	GUncertain significance
Select item 2383928	NM_001005512.2(OR4A47):c.73C>A (p.Leu25Ile)	OR4A47 (L25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641776	NM_001005512.2(OR4A47):c.91C>T (p.Leu31Phe)	OR4A47 (L31F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2353505	NM_001005512.2(OR4A47):c.119A>G (p.Asn40Ser)	OR4A47 (N40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205396	NM_001005512.2(OR4A47):c.170T>C (p.Met57Thr)	OR4A47 (M57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348357	NM_001005512.2(OR4A47):c.229C>T (p.Pro77Ser)	OR4A47 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490006	NM_001005512.2(OR4A47):c.272C>T (p.Ser91Phe)	OR4A47 (S91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510659	NM_001005512.2(OR4A47):c.413T>C (p.Val138Ala)	OR4A47 (V138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326271	NM_001005512.2(OR4A47):c.664T>C (p.Ser222Pro)	OR4A47 (S222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239667	NM_001005512.2(OR4A47):c.676C>T (p.Leu226Phe)	OR4A47 (L226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205397	NM_001005512.2(OR4A47):c.688G>C (p.Gly230Arg)	OR4A47 (G230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286497	NM_001005512.2(OR4A47):c.701C>A (p.Ala234Asp)	OR4A47 (A234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588315	NM_001005512.2(OR4A47):c.707C>T (p.Ser236Leu)	OR4A47 (S236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596129	NM_001005512.2(OR4A47):c.713G>A (p.Cys238Tyr)	OR4A47 (C238Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205398	NM_001005512.2(OR4A47):c.762T>A (p.Phe254Leu)	OR4A47 (F254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205399	NM_001005512.2(OR4A47):c.766T>C (p.Tyr256His)	OR4A47 (Y256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513345	NM_001005512.2(OR4A47):c.767A>C (p.Tyr256Ser)	OR4A47 (Y256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556392	NM_001005512.2(OR4A47):c.830C>G (p.Thr277Ser)	OR4A47 (T277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315664	NM_001005512.2(OR4A47):c.835A>G (p.Met279Val)	OR4A47 (M279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493095	NM_001005512.2(OR4A47):c.926C>T (p.Thr309Ile)	OR4A47 (T309I)	Single nucleotide variant (missense variant)	not specified	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	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 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	ACER3, ACP2 +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 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	FNBP4, NUP160 +7 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50