ClinVar for Gene (Select 51094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3248002	NC_000001.10:g.(?_202910701)_(202911366_?)del	ADIPOR1	Deletion	not provided	GUncertain significance
Select item 3248001	NC_000001.10:g.(?_202910701)_(202927507_?)del	ADIPOR1	Deletion	not provided	GUncertain significance
Select item 3089414	NM_015999.6(ADIPOR1):c.194G>A (p.Arg65Gln)	ADIPOR1 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3035760	NM_015999.6(ADIPOR1):c.381C>T (p.Ser127=)	ADIPOR1	Single nucleotide variant (synonymous variant)	ADIPOR1-related disorder	GLikely benign
Select item 3028553	NM_015999.6(ADIPOR1):c.199C>G (p.Leu67Val)	ADIPOR1 (L67V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028546	NM_015999.6(ADIPOR1):c.322G>A (p.Asp108Asn)	ADIPOR1 (D108N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028534	NM_015999.6(ADIPOR1):c.885C>T (p.Thr295=)	ADIPOR1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3022418	NM_015999.6(ADIPOR1):c.167T>C (p.Val56Ala)	ADIPOR1 (V56A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008680	NM_015999.6(ADIPOR1):c.617+11A>G	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002104	NM_015999.6(ADIPOR1):c.136C>T (p.Pro46Ser)	ADIPOR1 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980950	NM_015999.6(ADIPOR1):c.141+17G>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916286	NM_015999.6(ADIPOR1):c.339T>G (p.Gly113=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880005	NM_015999.6(ADIPOR1):c.791G>A (p.Arg264Gln)	ADIPOR1 (R264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879965	NM_015999.6(ADIPOR1):c.805+4G>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2865849	NM_015999.6(ADIPOR1):c.605G>A (p.Arg202Gln)	ADIPOR1 (R202Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850876	NM_015999.6(ADIPOR1):c.212T>A (p.Leu71Gln)	ADIPOR1 (L71Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839224	NM_015999.6(ADIPOR1):c.142-19T>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835695	NM_015999.6(ADIPOR1):c.826T>C (p.Leu276=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800088	NM_015999.6(ADIPOR1):c.38A>G (p.Asn13Ser)	ADIPOR1 (N13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799273	NM_015999.6(ADIPOR1):c.618-14G>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796466	NM_015999.6(ADIPOR1):c.513G>A (p.Val171=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2782925	NM_015999.6(ADIPOR1):c.190G>A (p.Val64Met)	ADIPOR1 (V64M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782697	NM_015999.6(ADIPOR1):c.864T>C (p.Ala288=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767244	NM_015999.6(ADIPOR1):c.142-3T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2741143	NM_015999.6(ADIPOR1):c.807C>T (p.Gly269=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717199	NM_015999.6(ADIPOR1):c.1058A>G (p.Tyr353Cys)	ADIPOR1 (Y353C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704840	NM_015999.6(ADIPOR1):c.829A>T (p.Ser277Cys)	ADIPOR1 (S277C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426257	NC_000001.10:g.(?_202910701)_(202920198_?)dup	ADIPOR1	Duplication	not provided	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2284683	NM_015999.6(ADIPOR1):c.547T>A (p.Cys183Ser)	ADIPOR1 (C183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2182057	NM_015999.6(ADIPOR1):c.654G>A (p.Gly218=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129538	NM_015999.6(ADIPOR1):c.142-10T>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116332	NM_015999.6(ADIPOR1):c.981T>C (p.Pro327=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112176	NM_015999.6(ADIPOR1):c.617+14A>G	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110418	NM_015999.6(ADIPOR1):c.289T>C (p.Tyr97His)	ADIPOR1 (Y97H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109556	NM_015999.6(ADIPOR1):c.258+10A>G	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105387	NM_015999.6(ADIPOR1):c.943G>A (p.Gly315Ser)	ADIPOR1 (G315S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102800	NM_015999.6(ADIPOR1):c.445C>T (p.Leu149Phe)	ADIPOR1 (L149F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098366	NM_015999.6(ADIPOR1):c.246G>A (p.Glu82=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096337	NM_015999.6(ADIPOR1):c.259-13G>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095895	NM_015999.6(ADIPOR1):c.874G>A (p.Val292Ile)	ADIPOR1 (V292I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095571	NM_015999.6(ADIPOR1):c.1000-4A>G	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095119	NM_015999.6(ADIPOR1):c.156A>T (p.Gln52His)	ADIPOR1 (Q52H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092566	NM_015999.6(ADIPOR1):c.118C>T (p.Arg40Trp)	ADIPOR1 (R40W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077335	NM_015999.6(ADIPOR1):c.637G>A (p.Ala213Thr)	ADIPOR1 (A213T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073795	NM_015999.6(ADIPOR1):c.389G>A (p.Arg130His)	ADIPOR1 (R130H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052217	NM_015999.6(ADIPOR1):c.430+11T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027356	NM_015999.6(ADIPOR1):c.141+3A>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2025628	NM_015999.6(ADIPOR1):c.430+15T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019568	NM_015999.6(ADIPOR1):c.2T>C (p.Met1Thr)	ADIPOR1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2014713	NM_015999.6(ADIPOR1):c.431-9C>G	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007315	NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs)	ADIPOR1 (T135fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2004385	NM_015999.6(ADIPOR1):c.483G>A (p.Met161Ile)	ADIPOR1 (M161I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973813	NM_015999.6(ADIPOR1):c.684C>T (p.Phe228=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1966202	NM_015999.6(ADIPOR1):c.805+18C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964338	NM_015999.6(ADIPOR1):c.111G>A (p.Lys37=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944869	NM_015999.6(ADIPOR1):c.959G>A (p.Arg320Gln)	ADIPOR1 (R320Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942050	NM_015999.6(ADIPOR1):c.262T>G (p.Trp88Gly)	ADIPOR1 (W88G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935871	NM_015999.6(ADIPOR1):c.1000-17del	ADIPOR1	Deletion (intron variant)	not provided	GBenign
Select item 1934282	NM_015999.6(ADIPOR1):c.1090G>C (p.Gly364Arg)	ADIPOR1 (G364R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933021	NM_015999.6(ADIPOR1):c.752T>A (p.Ile251Asn)	ADIPOR1 (I251N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915722	NM_015999.6(ADIPOR1):c.1088A>T (p.Tyr363Phe)	ADIPOR1 (Y363F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915417	NM_015999.6(ADIPOR1):c.399A>C (p.Thr133=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912022	NM_015999.6(ADIPOR1):c.703C>T (p.Arg235Trp)	ADIPOR1 (R235W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910858	NM_015999.6(ADIPOR1):c.806-11G>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909059	NM_015999.6(ADIPOR1):c.431-11C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908383	NM_015999.6(ADIPOR1):c.88C>A (p.Leu30Met)	ADIPOR1 (L30M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906313	NM_015999.6(ADIPOR1):c.436G>A (p.Val146Met)	ADIPOR1 (V146M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898936	NM_015999.6(ADIPOR1):c.606G>C (p.Arg202=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895583	NM_015999.6(ADIPOR1):c.917T>C (p.Met306Thr)	ADIPOR1 (M306T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1720911	NM_015999.6(ADIPOR1):c.376A>C (p.Lys126Gln)	ADIPOR1 (K126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718599	NM_015999.6(ADIPOR1):c.319A>G (p.Asn107Asp)	ADIPOR1 (N107D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1667547	NM_015999.6(ADIPOR1):c.615C>T (p.Ser205=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661712	NM_015999.6(ADIPOR1):c.969G>A (p.Glu323=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656457	NM_015999.6(ADIPOR1):c.259-14T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649912	NM_015999.6(ADIPOR1):c.1041A>G (p.Ala347=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648441	NM_015999.6(ADIPOR1):c.431-18dup	ADIPOR1	Duplication (intron variant)	not provided	GBenign
Select item 1646752	NM_015999.6(ADIPOR1):c.321C>T (p.Asn107=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640909	NM_015999.6(ADIPOR1):c.72G>A (p.Thr24=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637783	NM_015999.6(ADIPOR1):c.618-14G>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635616	NM_015999.6(ADIPOR1):c.552C>T (p.Leu184=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634204	NM_015999.6(ADIPOR1):c.999+17C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631958	NM_015999.6(ADIPOR1):c.711C>A (p.Ile237=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629030	NM_015999.6(ADIPOR1):c.805+19G>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613237	NM_015999.6(ADIPOR1):c.723C>T (p.Ile241=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581505	NM_015999.6(ADIPOR1):c.1089C>T (p.Tyr363=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569961	NM_015999.6(ADIPOR1):c.258+15C>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554895	NM_015999.6(ADIPOR1):c.696A>G (p.Pro232=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553011	NM_015999.6(ADIPOR1):c.471C>G (p.Leu157=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551248	NM_015999.6(ADIPOR1):c.195G>A (p.Arg65=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548476	NM_015999.6(ADIPOR1):c.1000-5T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548364	NM_015999.6(ADIPOR1):c.105A>G (p.Glu35=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547405	NM_015999.6(ADIPOR1):c.420C>T (p.Thr140=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544720	NM_015999.6(ADIPOR1):c.462G>A (p.Leu154=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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