ADIPOR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 1416676	NM_015999.6(ADIPOR1):c.1101C>T (p.Gly367=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1509495	NM_015999.6(ADIPOR1):c.1090G>A (p.Gly364Ser)	ADIPOR1 (G364S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581505	NM_015999.6(ADIPOR1):c.1089C>T (p.Tyr363=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2717199	NM_015999.6(ADIPOR1):c.1058A>G (p.Tyr353Cys)	ADIPOR1 (Y353C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649912	NM_015999.6(ADIPOR1):c.1041A>G (p.Ala347=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466587	NM_015999.6(ADIPOR1):c.1034T>A (p.Val345Glu)	ADIPOR1 (V345E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051261	NM_015999.6(ADIPOR1):c.1016T>C (p.Ile339Thr)	ADIPOR1 (I339T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1083266	NM_015999.6(ADIPOR1):c.1002C>T (p.Phe334=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095571	NM_015999.6(ADIPOR1):c.1000-4A>G	ADIPOR1	Single nucleotide variant (intron 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 1152494	NM_015999.6(ADIPOR1):c.1000-14T>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935871	NM_015999.6(ADIPOR1):c.1000-17del	ADIPOR1	Deletion (intron variant)	not provided	GBenign
Select item 1634204	NM_015999.6(ADIPOR1):c.999+17C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1150551	NM_015999.6(ADIPOR1):c.984A>G (p.Gly328=)	ADIPOR1	Single nucleotide variant (synonymous 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 1063189	NM_015999.6(ADIPOR1):c.970C>T (p.Arg324Cys)	ADIPOR1 (R324C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661712	NM_015999.6(ADIPOR1):c.969G>A (p.Glu323=)	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 841163	NM_015999.6(ADIPOR1):c.955G>A (p.Ala319Thr)	ADIPOR1 (A319T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1403201	NM_015999.6(ADIPOR1):c.929A>G (p.Tyr310Cys)	ADIPOR1 (Y310C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1043288	NM_015999.6(ADIPOR1):c.928T>A (p.Tyr310Asn)	ADIPOR1 (Y310N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1482832	NM_015999.6(ADIPOR1):c.887C>G (p.Thr296Arg)	ADIPOR1 (T296R)	Single nucleotide variant (missense variant)	not provided	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 1168249	NM_015999.6(ADIPOR1):c.885C>G (p.Thr295=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1051128	NM_015999.6(ADIPOR1):c.867G>A (p.Glu289=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782697	NM_015999.6(ADIPOR1):c.864T>C (p.Ala288=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364500	NM_015999.6(ADIPOR1):c.862G>A (p.Ala288Thr)	ADIPOR1 (A288T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1094866	NM_015999.6(ADIPOR1):c.846C>T (p.Thr282=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 841669	NM_015999.6(ADIPOR1):c.835G>A (p.Val279Ile)	ADIPOR1 (V279I)	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 2835695	NM_015999.6(ADIPOR1):c.826T>C (p.Leu276=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164266	NM_015999.6(ADIPOR1):c.822T>C (p.Leu274=)	ADIPOR1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign
Select item 1503586	NM_015999.6(ADIPOR1):c.808G>A (p.Val270Met)	ADIPOR1 (V270M)	Single nucleotide variant (missense 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 1089665	NM_015999.6(ADIPOR1):c.806-8C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910858	NM_015999.6(ADIPOR1):c.806-11G>C	ADIPOR1	Single nucleotide variant (intron 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 1966202	NM_015999.6(ADIPOR1):c.805+18C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 847044	NM_015999.6(ADIPOR1):c.805+8G>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879965	NM_015999.6(ADIPOR1):c.805+4G>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1385955	NM_015999.6(ADIPOR1):c.770G>A (p.Arg257Gln)	ADIPOR1 (R257Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1125767	NM_015999.6(ADIPOR1):c.759G>A (p.Ala253=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 940784	NM_015999.6(ADIPOR1):c.752T>C (p.Ile251Thr)	ADIPOR1 (I251T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1613237	NM_015999.6(ADIPOR1):c.723C>T (p.Ile241=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112288	NM_015999.6(ADIPOR1):c.714C>T (p.Tyr238=)	ADIPOR1	Single nucleotide variant (synonymous 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 1470036	NM_015999.6(ADIPOR1):c.705del (p.Leu236fs)	ADIPOR1 (L236fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1405597	NM_015999.6(ADIPOR1):c.698A>G (p.Gln233Arg)	ADIPOR1 (Q233R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554895	NM_015999.6(ADIPOR1):c.696A>G (p.Pro232=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973813	NM_015999.6(ADIPOR1):c.684C>T (p.Phe228=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1034765	NM_015999.6(ADIPOR1):c.674A>T (p.Tyr225Phe)	ADIPOR1 (Y225F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460490	NM_015999.6(ADIPOR1):c.670C>T (p.Leu224Phe)	ADIPOR1 (L224F)	Single nucleotide variant (missense variant)	not provided	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 2077335	NM_015999.6(ADIPOR1):c.637G>A (p.Ala213Thr)	ADIPOR1 (A213T)	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 1637783	NM_015999.6(ADIPOR1):c.618-14G>A	ADIPOR1	Single nucleotide variant (intron 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 3008680	NM_015999.6(ADIPOR1):c.617+11A>G	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1516117	NM_015999.6(ADIPOR1):c.617+6T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1667547	NM_015999.6(ADIPOR1):c.615C>T (p.Ser205=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898936	NM_015999.6(ADIPOR1):c.606G>C (p.Arg202=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 844429	NM_015999.6(ADIPOR1):c.604C>T (p.Arg202Trp)	ADIPOR1 (R202W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1159330	NM_015999.6(ADIPOR1):c.591A>G (p.Ser197=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 956102	NM_015999.6(ADIPOR1):c.577G>A (p.Val193Ile)	ADIPOR1 (V193I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084373	NM_015999.6(ADIPOR1):c.558C>T (p.Phe186=)	ADIPOR1	Single nucleotide variant (synonymous 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 2284683	NM_015999.6(ADIPOR1):c.547T>A (p.Cys183Ser)	ADIPOR1 (C183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2796466	NM_015999.6(ADIPOR1):c.513G>A (p.Val171=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1160516	NM_015999.6(ADIPOR1):c.486C>T (p.Tyr162=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1479033	NM_015999.6(ADIPOR1):c.475C>T (p.Pro159Ser)	ADIPOR1 (P159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1159117	NM_015999.6(ADIPOR1):c.474A>G (p.Arg158=)	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 1544720	NM_015999.6(ADIPOR1):c.462G>A (p.Leu154=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530995	NM_015999.6(ADIPOR1):c.447C>G (p.Leu149=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1906313	NM_015999.6(ADIPOR1):c.436G>A (p.Val146Met)	ADIPOR1 (V146M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140148	NM_015999.6(ADIPOR1):c.435C>T (p.Phe145=)	ADIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386020	NM_015999.6(ADIPOR1):c.431-3C>T	ADIPOR1	Single nucleotide variant (intron variant)	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 1909059	NM_015999.6(ADIPOR1):c.431-11C>T	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648441	NM_015999.6(ADIPOR1):c.431-18dup	ADIPOR1	Duplication (intron variant)	not provided	GBenign
Select item 2025628	NM_015999.6(ADIPOR1):c.430+15T>C	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168437	NM_015999.6(ADIPOR1):c.430+12G>A	ADIPOR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2052217	NM_015999.6(ADIPOR1):c.430+11T>C	ADIPOR1	Single nucleotide variant (intron 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 2007315	NM_015999.6(ADIPOR1):c.403_404insAAAA (p.Thr135fs)	ADIPOR1 (T135fs)	Insertion (frameshift 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 2073795	NM_015999.6(ADIPOR1):c.389G>A (p.Arg130His)	ADIPOR1 (R130H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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