ClinVar for Gene (Select 390067) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3205956	NM_001005289.5(OR52H1):c.542G>A (p.Cys181Tyr)	OR52H1 (C181Y)	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 3205954	NM_001005289.5(OR52H1):c.446G>A (p.Gly149Asp)	OR52H1 (G149D)	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 2538066	NM_001005289.5(OR52H1):c.184T>C (p.Phe62Leu)	OR52H1 (F62L)	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 2488969	NM_001005289.5(OR52H1):c.565C>T (p.Leu189Phe)	OR52H1 (L189F)	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 2399549	NM_001005289.5(OR52H1):c.937A>G (p.Thr313Ala)	OR52H1 (T313A)	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 2379410	NM_001005289.5(OR52H1):c.860C>T (p.Pro287Leu)	OR52H1 (P287L)	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 2376101	NM_001005289.5(OR52H1):c.145T>G (p.Tyr49Asp)	OR52H1 (Y49D)	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 2352142	NM_001005289.5(OR52H1):c.806A>G (p.Asn269Ser)	OR52H1 (N269S)	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 2309485	NM_001005289.5(OR52H1):c.805A>C (p.Asn269His)	OR52H1 (N269H)	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 2277612	NM_001005289.5(OR52H1):c.591C>A (p.Asn197Lys)	OR52H1 (N197K)	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 2230038	NM_001005289.5(OR52H1):c.839A>G (p.Asn280Ser)	OR52H1 (N280S)	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 2205323	NM_001005289.5(OR52H1):c.517A>G (p.Thr173Ala)	OR52H1 (T173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	OR10A6, RRM1 +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	ART1, CD81 +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	IFITM3, OR52D1 +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	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +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	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
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 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	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +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
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50