ClinVar for Gene (Select 338328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358985	NM_178172.6(GPIHBP1):c.52+2T>C	GPIHBP1	Single nucleotide variant (splice donor variant)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 3282159	NM_178172.6(GPIHBP1):c.239C>A (p.Thr80Lys)	GPIHBP1 (T80K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3282158	NM_178172.6(GPIHBP1):c.82G>A (p.Glu28Lys)	GPIHBP1 (E28K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3282157	NM_178172.6(GPIHBP1):c.115G>C (p.Asp39His)	GPIHBP1 (D39H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3257216	NM_178172.6(GPIHBP1):c.496G>A (p.Ala166Thr)	GPIHBP1 (A166T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242178	NM_178172.6(GPIHBP1):c.472C>T (p.Arg158Trp)	GPIHBP1 (R158W)	Single nucleotide variant (missense variant +1 more)	Hyperlipoproteinemia, type 1D	GUncertain significance
Select item 3229468	NM_178172.6(GPIHBP1):c.90C>T (p.Asp30=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229467	NM_178172.6(GPIHBP1):c.551C>A (p.Pro184His)	GPIHBP1 (P184H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229466	NM_178172.6(GPIHBP1):c.48G>T (p.Arg16=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229465	NM_178172.6(GPIHBP1):c.471C>G (p.Pro157=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3229464	NM_178172.6(GPIHBP1):c.381C>T (p.Thr127=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3229463	NM_178172.6(GPIHBP1):c.361G>A (p.Val121Met)	GPIHBP1 (V121M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229462	NM_178172.6(GPIHBP1):c.359C>A (p.Thr120Lys)	GPIHBP1 (T120K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229461	NM_178172.6(GPIHBP1):c.348C>T (p.Pro116=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229460	NM_178172.6(GPIHBP1):c.227G>A (p.Arg76His)	GPIHBP1 (R76H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3229459	NM_178172.6(GPIHBP1):c.198C>T (p.Tyr66=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229458	NM_178172.6(GPIHBP1):c.157A>C (p.Arg53=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3101318	NM_178172.6(GPIHBP1):c.473G>A (p.Arg158Gln)	GPIHBP1 (R158Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3101317	NM_178172.6(GPIHBP1):c.463G>A (p.Gly155Ser)	GPIHBP1 (G155S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3101316	NM_178172.6(GPIHBP1):c.398C>T (p.Ser133Phe)	GPIHBP1 (S133F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3101315	NM_178172.6(GPIHBP1):c.269C>A (p.Thr90Lys)	GPIHBP1 (T90K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3031717	NM_178172.6(GPIHBP1):c.504C>T (p.Leu168=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	GPIHBP1-related disorder	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2998052	NM_178172.6(GPIHBP1):c.280G>C (p.Ala94Pro)	GPIHBP1 (A94P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990897	NM_178172.6(GPIHBP1):c.182-11C>A	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968277	NM_178172.6(GPIHBP1):c.456G>A (p.Lys152=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960323	NM_178172.6(GPIHBP1):c.100G>C (p.Gly34Arg)	GPIHBP1 (G34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955797	NM_178172.6(GPIHBP1):c.181+19C>T	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908274	NM_178172.6(GPIHBP1):c.52+4C>A	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2904524	NM_178172.6(GPIHBP1):c.475G>A (p.Gly159Ser)	GPIHBP1 (G159S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821460	NM_178172.6(GPIHBP1):c.492G>A (p.Val164=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809181	NM_178172.6(GPIHBP1):c.52+14G>A	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735230	NM_178172.6(GPIHBP1):c.203G>A (p.Cys68Tyr)	GPIHBP1 (C68Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684558	GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3	ARC, CYP11B1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2587225	NM_178172.6(GPIHBP1):c.399C>T (p.Ser133=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2567314	NM_178172.6(GPIHBP1):c.494G>C (p.Gly165Ala)	GPIHBP1 (G165A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2567313	NM_178172.6(GPIHBP1):c.429C>T (p.Ser143=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2567312	NM_178172.6(GPIHBP1):c.180A>G (p.Arg60=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2560288	NM_178172.6(GPIHBP1):c.442G>A (p.Asp148Asn)	GPIHBP1 (D148N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2452999	NM_178172.6(GPIHBP1):c.151A>T (p.Thr51Ser)	GPIHBP1 (T51S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447227	NM_178172.6(GPIHBP1):c.551C>T (p.Pro184Leu)	GPIHBP1 (P184L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447226	NM_178172.6(GPIHBP1):c.334G>A (p.Asp112Asn)	GPIHBP1 (D112N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2427568	NC_000008.10:g.(?_144295143)_(144297393_?)del	GPIHBP1	Deletion	not provided	GPathogenic
Select item 2382059	NM_178172.6(GPIHBP1):c.484G>A (p.Glu162Lys)	GPIHBP1 (E162K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2284470	NM_178172.6(GPIHBP1):c.384G>A (p.Met128Ile)	GPIHBP1 (M128I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2244872	NM_178172.6(GPIHBP1):c.133G>A (p.Glu45Lys)	GPIHBP1 (E45K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2217084	NM_178172.6(GPIHBP1):c.148G>A (p.Glu50Lys)	GPIHBP1 (E50K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2200615	NM_178172.6(GPIHBP1):c.295+9G>A	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2175961	NM_178172.6(GPIHBP1):c.13G>T (p.Gly5Trp)	GPIHBP1 (G5W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2165484	NM_178172.6(GPIHBP1):c.102G>A (p.Gly34=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2136714	NM_178172.6(GPIHBP1):c.323C>T (p.Thr108Met)	GPIHBP1 (T108M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071106	NM_178172.6(GPIHBP1):c.190C>T (p.Arg64Trp)	GPIHBP1 (R64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021110	NM_178172.6(GPIHBP1):c.296-9C>G	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942442	NM_178172.6(GPIHBP1):c.52+7G>A	GPIHBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1938891	NM_178172.6(GPIHBP1):c.90C>G (p.Asp30Glu)	GPIHBP1 (D30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807792	GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3	CYP11B1, CYP11B2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1806737	NM_178172.6(GPIHBP1):c.8C>T (p.Ala3Val)	GPIHBP1 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803904	NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)	GPIHBP1 (S133fs)	Deletion (frameshift variant +1 more)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 1796557	NM_178172.6(GPIHBP1):c.282C>G (p.Ala94=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1794299	NM_178172.6(GPIHBP1):c.264C>G (p.Thr88=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1792925	NM_178172.6(GPIHBP1):c.254A>G (p.His85Arg)	GPIHBP1 (H85R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1792227	NM_178172.6(GPIHBP1):c.24G>A (p.Leu8=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1788592	NM_178172.6(GPIHBP1):c.225G>A (p.Glu75=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1788076	NM_178172.6(GPIHBP1):c.222C>T (p.Asp74=)	GPIHBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1787592	NM_178172.6(GPIHBP1):c.21C>T (p.Val7=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786222	NM_178172.6(GPIHBP1):c.211C>G (p.Leu71Val)	GPIHBP1 (L71V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783091	NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)	GPIHBP1 (D36H)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D +1 more	GUncertain significance
Select item 1782053	NM_178172.6(GPIHBP1):c.188T>C (p.Leu63Pro)	GPIHBP1 (L63P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781129	NM_178172.6(GPIHBP1):c.183G>A (p.Val61=)	GPIHBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1778117	NM_178172.6(GPIHBP1):c.168T>C (p.Gly56=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1777004	NM_178172.6(GPIHBP1):c.163C>G (p.Pro55Ala)	GPIHBP1 (P55A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774172	NM_178172.6(GPIHBP1):c.150G>A (p.Glu50=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1773541	NM_178172.6(GPIHBP1):c.147G>A (p.Glu49=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1771770	NM_178172.6(GPIHBP1):c.13G>A (p.Gly5Arg)	GPIHBP1 (G5R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1768936	NM_178172.6(GPIHBP1):c.9G>A (p.Ala3=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1768890	NM_178172.6(GPIHBP1):c.99C>T (p.His33=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1766476	NM_178172.6(GPIHBP1):c.92A>T (p.Glu31Val)	GPIHBP1 (E31V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766172	NM_178172.6(GPIHBP1):c.91G>A (p.Glu31Lys)	GPIHBP1 (E31K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759740	NM_178172.6(GPIHBP1):c.75G>A (p.Glu25=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748236	NM_178172.6(GPIHBP1):c.554G>A (p.Ter185=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1747592	NM_178172.6(GPIHBP1):c.544A>G (p.Arg182Gly)	GPIHBP1 (R182G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1746288	NM_178172.6(GPIHBP1):c.523G>A (p.Gly175Ser)	GPIHBP1 (G175S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1746207	NM_178172.6(GPIHBP1):c.522C>T (p.Ala174=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1746195	NM_178172.6(GPIHBP1):c.522C>G (p.Ala174=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1744560	NM_178172.6(GPIHBP1):c.498A>G (p.Ala166=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1744515	NM_178172.6(GPIHBP1):c.497C>A (p.Ala166Glu)	GPIHBP1 (A166E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1743489	NM_178172.6(GPIHBP1):c.483C>T (p.Ser161=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1742956	NM_178172.6(GPIHBP1):c.476G>A (p.Gly159Asp)	GPIHBP1 (G159D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1742537	NM_178172.6(GPIHBP1):c.46C>T (p.Arg16Trp)	GPIHBP1 (R16W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1742309	NM_178172.6(GPIHBP1):c.466G>A (p.Gly156Ser)	GPIHBP1 (G156S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1742233	NM_178172.6(GPIHBP1):c.465C>T (p.Gly155=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1741818	NM_178172.6(GPIHBP1):c.117C>T (p.Asp39=)	GPIHBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1740318	NM_178172.6(GPIHBP1):c.43G>A (p.Gly15Arg)	GPIHBP1 (G15R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739535	NM_178172.6(GPIHBP1):c.42C>T (p.Phe14=)	GPIHBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739491	NM_178172.6(GPIHBP1):c.429C>A (p.Ser143Arg)	GPIHBP1 (S143R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1738722	NM_178172.6(GPIHBP1):c.420C>G (p.Pro140=)	GPIHBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign

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