OR52H1[gene] - ClinVar

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

Search results

Items: 55

	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 2399549	NM_001005289.5(OR52H1):c.937A>G (p.Thr313Ala)	OR52H1 (T313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205957	NM_001005289.5(OR52H1):c.874A>G (p.Met292Val)	OR52H1 (M292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379410	NM_001005289.5(OR52H1):c.860C>T (p.Pro287Leu)	OR52H1 (P287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227564	NM_001005289.5(OR52H1):c.847A>G (p.Ile283Val)	OR52H1 (I283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230038	NM_001005289.5(OR52H1):c.839A>G (p.Asn280Ser)	OR52H1 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390931	NM_001005289.5(OR52H1):c.827T>C (p.Ile276Thr)	OR52H1 (I276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352142	NM_001005289.5(OR52H1):c.806A>G (p.Asn269Ser)	OR52H1 (N269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309485	NM_001005289.5(OR52H1):c.805A>C (p.Asn269His)	OR52H1 (N269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356227	NM_001005289.5(OR52H1):c.793C>T (p.Arg265Cys)	OR52H1 (R265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511346	NM_001005289.5(OR52H1):c.702T>A (p.Asp234Glu)	OR52H1 (D234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264679	NM_001005289.5(OR52H1):c.635A>C (p.Asp212Ala)	OR52H1 (D212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277612	NM_001005289.5(OR52H1):c.591C>A (p.Asn197Lys)	OR52H1 (N197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488969	NM_001005289.5(OR52H1):c.565C>T (p.Leu189Phe)	OR52H1 (L189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303087	NM_001005289.5(OR52H1):c.547C>A (p.His183Asn)	OR52H1 (H183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205956	NM_001005289.5(OR52H1):c.542G>A (p.Cys181Tyr)	OR52H1 (C181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377335	NM_001005289.5(OR52H1):c.525C>G (p.Ile175Met)	OR52H1 (I175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205955	NM_001005289.5(OR52H1):c.520C>T (p.Arg174Cys)	OR52H1 (R174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205323	NM_001005289.5(OR52H1):c.517A>G (p.Thr173Ala)	OR52H1 (T173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205954	NM_001005289.5(OR52H1):c.446G>A (p.Gly149Asp)	OR52H1 (G149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303085	NM_001005289.5(OR52H1):c.398G>A (p.Arg133Lys)	OR52H1 (R133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278533	NM_001005289.5(OR52H1):c.272C>G (p.Ala91Gly)	OR52H1 (A91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278531	NM_001005289.5(OR52H1):c.266T>C (p.Leu89Pro)	OR52H1 (L89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345593	NM_001005289.5(OR52H1):c.229A>G (p.Thr77Ala)	OR52H1 (T77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538066	NM_001005289.5(OR52H1):c.184T>C (p.Phe62Leu)	OR52H1 (F62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376101	NM_001005289.5(OR52H1):c.145T>G (p.Tyr49Asp)	OR52H1 (Y49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489505	NM_001005289.5(OR52H1):c.103A>G (p.Ile35Val)	OR52H1 (I35V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303083	NM_001005289.5(OR52H1):c.72A>C (p.Gln24His)	OR52H1 (Q24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469595	NM_001005289.5(OR52H1):c.38C>G (p.Pro13Arg)	OR52H1 (P13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303084	NM_001005289.5(OR52H1):c.32C>G (p.Pro11Arg)	OR52H1 (P11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303086	NM_001005289.5(OR52H1):c.6C>G (p.Ile2Met)	OR52H1 (I2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
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 1809171	GRCh37/hg19 11p15.4(chr11:5439244-5570043)x1	OR51I1, OR51I2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1809092	GRCh37/hg19 11p15.4(chr11:5361272-5660023)x1	OR51B5, OR51B6 +11 more	Copy number loss	not provided	GUncertain significance
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 1807597	GRCh37/hg19 11p15.4(chr11:5279153-5619949)x3	HBE1, OR51B2 +13 more	Copy number gain	not provided	GUncertain significance
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 1341222	GRCh37/hg19 11p15.4(chr11:5488908-5701819)x1	OR52B6, OR52D1 +6 more	Copy number loss	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 980408	GRCh37/hg19 11p15.4(chr11:5485211-5693876)x1	OR52B6, TRIM6 +6 more	Copy number loss	not provided	GUncertain significance
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 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 442099	GRCh37/hg19 11p15.4(chr11:5485210-5719251)x1	OR52B6, OR52D1 +7 more	Copy number loss	See cases	GLikely benign
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 441831	GRCh37/hg19 11p15.4(chr11:5361271-5616544)x1	OR51B5, OR51B6 +9 more	Copy number loss	See cases	GUncertain significance
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
Select item 394072	GRCh37/hg19 11p15.4(chr11:5528520-5603113)x1	OR52B6, OR52H1 +2 more	Copy number loss	See cases	GUncertain significance

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: 55