ClinVar for Gene (Select 390083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206058	NM_001146033.1(OR56A5):c.83A>G (p.His28Arg)	OR56A3, OR56A5 (H28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206056	NM_001146033.1(OR56A5):c.739C>T (p.His247Tyr)	OR56A3, OR56A5 (H247Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206055	NM_001146033.1(OR56A5):c.689G>A (p.Arg230Lys)	OR56A3, OR56A5 (R230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206054	NM_001146033.1(OR56A5):c.537C>G (p.Asn179Lys)	OR56A3, OR56A5 (N179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206053	NM_001146033.1(OR56A5):c.491T>C (p.Ile164Thr)	OR56A3, OR56A5 (I164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206052	NM_001146033.1(OR56A5):c.401A>G (p.Gln134Arg)	OR56A3, OR56A5 (Q134R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3206047	NM_001005179.4(OR56A4):c.136A>C (p.Thr46Pro)	OR56A3, OR56A4 (T46P)	Single nucleotide variant (missense variant)	not specified	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 3206045	NM_001003443.3(OR56A3):c.700G>A (p.Ala234Thr)	OR56A3 (A234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206044	NM_001003443.3(OR56A3):c.689T>G (p.Leu230Arg)	OR56A3 (L230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206043	NM_001003443.3(OR56A3):c.590C>A (p.Thr197Asn)	OR56A3 (T197N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206000	NM_001005173.3(OR52L1):c.807C>A (p.Phe269Leu)	OR52L1, OR56A3 (F269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205999	NM_001005173.3(OR52L1):c.787A>G (p.Ile263Val)	OR52L1, OR56A3 (I263V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205998	NM_001005173.3(OR52L1):c.637A>T (p.Asn213Tyr)	OR52L1, OR56A3 (N213Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205997	NM_001005173.3(OR52L1):c.365T>C (p.Ile122Thr)	OR52L1, OR56A3 (I122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205996	NM_001005173.3(OR52L1):c.274G>C (p.Ala92Pro)	OR52L1, OR56A3 (A92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205995	NM_001005173.3(OR52L1):c.231G>A (p.Met77Ile)	OR52L1, OR56A3 (M77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205994	NM_001005173.3(OR52L1):c.202T>C (p.Trp68Arg)	OR52L1, OR56A3 (W68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641545	NM_001146033.1(OR56A5):c.812T>C (p.Ile271Thr)	OR56A3, OR56A5 (I271T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2614251	NM_001003443.3(OR56A3):c.459G>C (p.Leu153Phe)	OR56A3 (L153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613165	NM_001005173.3(OR52L1):c.562C>G (p.Gln188Glu)	OR52L1, OR56A3 (Q188E)	Single nucleotide variant (missense variant)	not specified	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 2594363	NM_001005173.3(OR52L1):c.302C>T (p.Ala101Val)	OR52L1, OR56A3 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593481	NM_001005173.3(OR52L1):c.344G>T (p.Cys115Phe)	OR52L1, OR56A3 (C115F)	Single nucleotide variant (missense 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 2589996	NM_001005179.4(OR56A4):c.222C>G (p.Ile74Met)	OR56A3, OR56A4 (I74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587975	NM_001146033.1(OR56A5):c.670A>G (p.Ile224Val)	OR56A3, OR56A5 (I224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568741	NM_001003443.3(OR56A3):c.680G>A (p.Arg227Gln)	OR56A3 (R227Q)	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 2554846	NM_001005179.4(OR56A4):c.25A>G (p.Thr9Ala)	OR56A3, OR56A4 (T9A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548796	NM_001003443.3(OR56A3):c.650T>C (p.Leu217Pro)	OR56A3 (L217P)	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 2542368	NM_001146033.1(OR56A5):c.344C>T (p.Ser115Phe)	OR56A3, OR56A5 (S115F)	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 2525228	NM_001005179.4(OR56A4):c.593A>G (p.Asn198Ser)	OR56A3, OR56A4 (N198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519906	NM_001146033.1(OR56A5):c.793A>G (p.Asn265Asp)	OR56A3, OR56A5 (N265D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508539	NM_001003443.3(OR56A3):c.653T>C (p.Ile218Thr)	OR56A3 (I218T)	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 2477206	NM_001146033.1(OR56A5):c.795C>G (p.Asn265Lys)	OR56A3, OR56A5 (N265K)	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 2462313	NM_001005179.4(OR56A4):c.143T>A (p.Leu48His)	OR56A3, OR56A4 (L48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455117	NM_001003443.3(OR56A3):c.512G>A (p.Arg171His)	OR56A3 (R171H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407747	NM_001005173.3(OR52L1):c.295G>A (p.Ala99Thr)	OR52L1, OR56A3 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404549	NM_001005173.3(OR52L1):c.902T>C (p.Met301Thr)	OR52L1, OR56A3 (M301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2398748	NM_001005173.3(OR52L1):c.875T>A (p.Val292Asp)	OR52L1, OR56A3 (V292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376867	NM_001003443.3(OR56A3):c.497T>C (p.Leu166Pro)	OR56A3 (L166P)	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 2365439	NM_001005173.3(OR52L1):c.212C>T (p.Pro71Leu)	OR52L1, OR56A3 (P71L)	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 2358700	NM_001003443.3(OR56A3):c.545T>C (p.Ile182Thr)	OR56A3 (I182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355167	NM_001003443.3(OR56A3):c.813A>T (p.Lys271Asn)	OR56A3 (K271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355001	NM_001005173.3(OR52L1):c.302C>A (p.Ala101Glu)	OR52L1, OR56A3 (A101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354419	NM_001003443.3(OR56A3):c.743A>G (p.His248Arg)	OR56A3 (H248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352028	NM_001005179.4(OR56A4):c.-36-17C>T	OR56A3, OR56A4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2351369	NM_001003443.3(OR56A3):c.533T>C (p.Ile178Thr)	OR56A3 (I178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348324	NM_001005173.3(OR52L1):c.911C>T (p.Ala304Val)	OR52L1, OR56A3 (A304V)	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 2330890	NM_001005179.4(OR56A4):c.299G>T (p.Cys100Phe)	OR56A3, OR56A4 (C100F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326378	NM_001005179.4(OR56A4):c.272A>C (p.Asp91Ala)	OR56A3, OR56A4 (D91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323835	NM_001003443.3(OR56A3):c.43G>A (p.Asp15Asn)	OR56A3 (D15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315550	NM_001005173.3(OR52L1):c.842G>T (p.Arg281Leu)	OR52L1, OR56A3 (R281L)	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 2308869	NM_001146033.1(OR56A5):c.346T>C (p.Cys116Arg)	OR56A3, OR56A5 (C116R)	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 2303529	NM_001005179.4(OR56A4):c.315C>A (p.Phe105Leu)	OR56A3, OR56A4 (F105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299446	NM_001003443.3(OR56A3):c.922C>G (p.Gln308Glu)	OR56A3 (Q308E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292713	NM_001146033.1(OR56A5):c.769G>T (p.Val257Phe)	OR56A3, OR56A5 (V257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289128	NM_001003443.3(OR56A3):c.620G>T (p.Gly207Val)	OR56A3 (G207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287400	NM_001003443.3(OR56A3):c.862C>T (p.Pro288Ser)	OR56A3 (P288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279803	NM_001146033.1(OR56A5):c.266G>C (p.Trp89Ser)	OR56A3, OR56A5 (W89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272069	NM_001005173.3(OR52L1):c.628A>G (p.Thr210Ala)	OR52L1, OR56A3 (T210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269654	NM_001003443.3(OR56A3):c.226G>A (p.Val76Met)	OR56A3 (V76M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268433	NM_001146033.1(OR56A5):c.766A>G (p.Thr256Ala)	OR56A3, OR56A5 (T256A)	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	GUncertain significance
Select item 2260763	NM_001005173.3(OR52L1):c.320C>T (p.Ala107Val)	OR52L1, OR56A3 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256722	NM_001146033.1(OR56A5):c.314T>C (p.Phe105Ser)	OR56A3, OR56A5 (F105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249504	NM_001005173.3(OR52L1):c.120A>C (p.Glu40Asp)	OR52L1, OR56A3 (E40D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243744	NM_001005173.3(OR52L1):c.116A>G (p.Glu39Gly)	OR52L1, OR56A3 (E39G)	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 2242158	NM_001005173.3(OR52L1):c.842G>A (p.Arg281His)	OR52L1, OR56A3 (R281H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238159	NM_001005173.3(OR52L1):c.809A>G (p.Tyr270Cys)	OR52L1, OR56A3 (Y270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238142	NM_001005173.3(OR52L1):c.574A>G (p.Ile192Val)	OR52L1, OR56A3 (I192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227051	NM_001005179.4(OR56A4):c.-36-30T>G	OR56A3, OR56A4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2221262	NM_001003443.3(OR56A3):c.518G>A (p.Cys173Tyr)	OR56A3 (C173Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219750	NM_001146033.1(OR56A5):c.553G>A (p.Val185Met)	OR56A3, OR56A5 (V185M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2216578	NM_001003443.3(OR56A3):c.377G>A (p.Arg126His)	OR56A3 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203825	NM_001146033.1(OR56A5):c.124A>G (p.Met42Val)	OR56A3, OR56A5 (M42V)	Single nucleotide variant (missense variant)	not specified	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 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	OR52B2, OR56A5 +31 more	Duplication	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 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 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance

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