OR56A4[gene] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance
Select item 3206046	NM_001005179.4(OR56A4):c.917T>C (p.Ile306Thr)	OR56A3, OR56A4 (I306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309012	NM_001005179.4(OR56A4):c.853C>G (p.Leu285Val)	OR56A3, OR56A4 (L285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267196	NM_001005179.4(OR56A4):c.748C>G (p.Leu250Val)	OR56A3, OR56A4 (L250V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2601132	NM_001005179.4(OR56A4):c.724A>G (p.Ser242Gly)	OR56A3, OR56A4 (S242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206050	NM_001005179.4(OR56A4):c.719C>T (p.Ala240Val)	OR56A3, OR56A4 (A240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555857	NM_001005179.4(OR56A4):c.698C>A (p.Ala233Asp)	OR56A3, OR56A4 (A233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525228	NM_001005179.4(OR56A4):c.593A>G (p.Asn198Ser)	OR56A3, OR56A4 (N198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471962	NM_001005179.4(OR56A4):c.574T>A (p.Cys192Ser)	OR56A3, OR56A4 (C192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305812	NM_001005179.4(OR56A4):c.542T>A (p.Ile181Asn)	OR56A3, OR56A4 (I181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359596	NM_001005179.4(OR56A4):c.479T>A (p.Leu160His)	OR56A3, OR56A4 (L160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348047	NM_001005179.4(OR56A4):c.460C>T (p.Arg154Trp)	OR56A3, OR56A4 (R154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620027	NM_001005179.4(OR56A4):c.455T>C (p.Ile152Thr)	OR56A3, OR56A4 (I152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243041	NM_001005179.4(OR56A4):c.442G>T (p.Val148Leu)	OR56A3, OR56A4 (V148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303529	NM_001005179.4(OR56A4):c.315C>A (p.Phe105Leu)	OR56A3, OR56A4 (F105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330890	NM_001005179.4(OR56A4):c.299G>T (p.Cys100Phe)	OR56A3, OR56A4 (C100F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371100	NM_001005179.4(OR56A4):c.295G>T (p.Ala99Ser)	OR56A3, OR56A4 (A99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536584	NM_001005179.4(OR56A4):c.281C>G (p.Ser94Trp)	OR56A3, OR56A4 (S94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303128	NM_001005179.4(OR56A4):c.273C>A (p.Asp91Glu)	OR56A3, OR56A4 (D91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326378	NM_001005179.4(OR56A4):c.272A>C (p.Asp91Ala)	OR56A4, OR56A3 (D91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546150	NM_001005179.4(OR56A4):c.238G>A (p.Val80Ile)	OR56A3, OR56A4 (V80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589996	NM_001005179.4(OR56A4):c.222C>G (p.Ile74Met)	OR56A3, OR56A4 (I74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303129	NM_001005179.4(OR56A4):c.220A>G (p.Ile74Val)	OR56A3, OR56A4 (I74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206049	NM_001005179.4(OR56A4):c.164A>C (p.Glu55Ala)	OR56A3, OR56A4 (E55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206048	NM_001005179.4(OR56A4):c.152C>A (p.Thr51Asn)	OR56A3, OR56A4 (T51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462313	NM_001005179.4(OR56A4):c.143T>A (p.Leu48His)	OR56A3, OR56A4 (L48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206047	NM_001005179.4(OR56A4):c.136A>C (p.Thr46Pro)	OR56A3, OR56A4 (T46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219224	NM_001005179.4(OR56A4):c.98C>T (p.Pro33Leu)	OR56A3, OR56A4 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554846	NM_001005179.4(OR56A4):c.25A>G (p.Thr9Ala)	OR56A3, OR56A4 (T9A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404236	NM_001005179.4(OR56A4):c.-27G>A	OR56A3, OR56A4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2352028	NM_001005179.4(OR56A4):c.-36-17C>T	OR56A3, OR56A4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2590858	NM_001005179.4(OR56A4):c.-36-23G>A	OR56A3, OR56A4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2227051	NM_001005179.4(OR56A4):c.-36-30T>G	OR56A3, OR56A4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
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 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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: 51