ClinVar for Gene (Select 9885) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	EDN3, EEF1A2 +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3207054	NM_144498.4(OSBPL2):c.45T>A (p.Asp15Glu)	OSBPL2 (D15E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3207053	NM_144498.4(OSBPL2):c.286G>A (p.Ala96Thr)	OSBPL2 (A4T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207052	NM_144498.4(OSBPL2):c.1098C>G (p.Ile366Met)	OSBPL2 (I366M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053839	NM_144498.4(OSBPL2):c.37+9_37+13del	OSBPL2	Deletion (intron variant)	OSBPL2-related disorder	GLikely benign
Select item 3034816	NM_144498.4(OSBPL2):c.276G>A (p.Thr92=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	OSBPL2-related disorder	GLikely benign
Select item 3021695	NM_144498.4(OSBPL2):c.1126-15_1126-14del	OSBPL2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3018285	NM_144498.4(OSBPL2):c.1436T>C (p.Ile479Thr)	OSBPL2 (I387T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984256	NM_144498.4(OSBPL2):c.1341-19C>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969310	NM_144498.4(OSBPL2):c.782+16C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967933	NM_144498.4(OSBPL2):c.1337C>T (p.Thr446Met)	OSBPL2 (T354M +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2967598	NM_144498.4(OSBPL2):c.543C>A (p.Pro181=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954914	NM_144498.4(OSBPL2):c.782+17G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2896951	NM_144498.4(OSBPL2):c.552G>A (p.Ala184=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892345	NM_144498.4(OSBPL2):c.195G>A (p.Pro65=)	OSBPL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2891090	NM_144498.4(OSBPL2):c.283A>G (p.Ile95Val)	OSBPL2 (I83V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877608	NM_144498.4(OSBPL2):c.1325C>T (p.Ala442Val)	OSBPL2 (A430V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876227	NM_144498.4(OSBPL2):c.492-10T>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853434	NM_144498.4(OSBPL2):c.623G>T (p.Gly208Val)	OSBPL2 (G208V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806530	NM_144498.4(OSBPL2):c.872+15A>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800600	NM_144498.4(OSBPL2):c.371C>T (p.Pro124Leu)	OSBPL2 (P112L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784971	NM_144498.4(OSBPL2):c.1338G>A (p.Thr446=)	OSBPL2 (R313Q)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762871	NM_144498.4(OSBPL2):c.1173A>T (p.Thr391=)	OSBPL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756104	NM_144498.4(OSBPL2):c.183-4G>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740223	NM_144498.4(OSBPL2):c.1341-5G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2728995	NM_144498.4(OSBPL2):c.733G>A (p.Gly245Arg)	OSBPL2 (G245R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719247	NM_144498.4(OSBPL2):c.1009G>A (p.Gly337Arg)	OSBPL2 (G325R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716684	NM_144498.4(OSBPL2):c.1248G>A (p.Met416Ile)	OSBPL2 (M404I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2707660	NM_144498.4(OSBPL2):c.66A>G (p.Glu22=)	OSBPL2	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2692797	NM_144498.4(OSBPL2):c.872+4G>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2663401	NM_144498.4(OSBPL2):c.996G>A (p.Leu332=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2652471	NM_144498.4(OSBPL2):c.1125+144G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636685	NM_144498.4(OSBPL2):c.1228G>A (p.Gly410Ser)	OSBPL2 (G318S +2 more)	Single nucleotide variant (missense variant +1 more)	OSBPL2-related disorder	GUncertain significance
Select item 2618286	NM_144498.4(OSBPL2):c.185C>T (p.Thr62Ile)	OSBPL2 (T50I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614035	NM_144498.4(OSBPL2):c.1141A>G (p.Ser381Gly)	OSBPL2 (S381G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2581747	NM_144498.4(OSBPL2):c.1169A>C (p.Glu390Ala)	OSBPL2 (E298A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2578146	NM_144498.4(OSBPL2):c.841C>A (p.His281Asn)	OSBPL2 (H189N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575601	NM_144498.4(OSBPL2):c.445G>A (p.Gly149Ser)	OSBPL2 (G137S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523831	NM_144498.4(OSBPL2):c.1300C>T (p.Arg434Trp)	OSBPL2 (R422W +2 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511579	NM_144498.4(OSBPL2):c.1045G>A (p.Val349Met)	OSBPL2 (V257M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494673	NM_144498.4(OSBPL2):c.151C>T (p.Pro51Ser)	OSBPL2 (P51S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2446316	NM_144498.4(OSBPL2):c.908del (p.Thr303fs)	OSBPL2 (T211fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2442703	NM_144498.4(OSBPL2):c.58T>C (p.Ser20Pro)	OSBPL2 (S20P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2442596	NM_144498.4(OSBPL2):c.162G>C (p.Glu54Asp)	OSBPL2 (E42D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2427290	NC_000020.10:g.(?_60854193)_(60886170_?)dup	LAMA5, OSBPL2 +1 more	Duplication	not provided	GUncertain significance
Select item 2427289	NC_000020.10:g.(?_60861619)_(60890283_?)dup	LAMA5, OSBPL2 +1 more	Duplication	not provided	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2404093	NM_144498.4(OSBPL2):c.100A>G (p.Ile34Val)	OSBPL2 (I22V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2330597	NM_144498.4(OSBPL2):c.815C>T (p.Pro272Leu)	OSBPL2 (P180L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269867	NM_144498.4(OSBPL2):c.101T>C (p.Ile34Thr)	OSBPL2 (I22T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267731	NM_144498.4(OSBPL2):c.1087C>T (p.Leu363Phe)	OSBPL2 (L271F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251587	NM_144498.4(OSBPL2):c.1064A>G (p.Gln355Arg)	OSBPL2 (Q263R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241561	NM_144498.4(OSBPL2):c.1094G>A (p.Arg365Lys)	OSBPL2 (R273K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188905	NM_144498.4(OSBPL2):c.1423G>A (p.Asp475Asn)	OSBPL2 (D475N +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2187808	NM_144498.4(OSBPL2):c.1038C>T (p.Asp346=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2139688	NM_144498.4(OSBPL2):c.631G>A (p.Val211Met)	OSBPL2 (V119M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114261	NM_144498.4(OSBPL2):c.124A>C (p.Asn42His)	OSBPL2 (N42H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2104208	NM_144498.4(OSBPL2):c.313C>G (p.Gln105Glu)	OSBPL2 (Q93E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093099	NM_144498.4(OSBPL2):c.1137C>T (p.Phe379=)	OSBPL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082570	NM_144498.4(OSBPL2):c.294C>T (p.Asn98=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071829	NM_144498.4(OSBPL2):c.727A>G (p.Ile243Val)	OSBPL2 (I151V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990476	NM_144498.4(OSBPL2):c.996+15G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988295	NM_144498.4(OSBPL2):c.996+20del	OSBPL2	Deletion (intron variant)	not provided	GBenign
Select item 1969082	NM_144498.4(OSBPL2):c.1341-18C>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961239	NM_144498.4(OSBPL2):c.908C>T (p.Thr303Met)	OSBPL2 (T303M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934743	NM_144498.4(OSBPL2):c.996+20C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925224	NM_144498.4(OSBPL2):c.394-18C>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918291	NM_144498.4(OSBPL2):c.183-12T>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917229	NM_144498.4(OSBPL2):c.183-31_183-13del	OSBPL2	Deletion (intron variant)	not provided	GLikely benign
Select item 1909776	NM_144498.4(OSBPL2):c.1295A>C (p.Glu432Ala)	OSBPL2 (E420A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900793	NM_144498.4(OSBPL2):c.182+15G>A	OSBPL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1878947	NM_144498.4(OSBPL2):c.695G>A (p.Trp232Ter)	OSBPL2 (W140* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1691678	NM_144498.4(OSBPL2):c.194C>T (p.Pro65Leu)	OSBPL2 (P53L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1678834	NM_144498.4(OSBPL2):c.1026C>T (p.Asp342=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676384	NM_144498.4(OSBPL2):c.173A>C (p.Gln58Pro)	OSBPL2 (Q46P +1 more)	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 1665703	NM_144498.4(OSBPL2):c.540C>G (p.Pro180=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662396	NM_144498.4(OSBPL2):c.782+15C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651632	NM_144498.4(OSBPL2):c.519G>A (p.Ser173=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649661	NM_144498.4(OSBPL2):c.639G>A (p.Ala213=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640787	NM_144498.4(OSBPL2):c.1371T>G (p.Thr457=)	OSBPL2 (L324R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1635561	NM_144498.4(OSBPL2):c.1341-20C>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635259	NM_144498.4(OSBPL2):c.1380C>T (p.Pro460=)	OSBPL2 (P327L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1630766	NM_144498.4(OSBPL2):c.1126-14G>T	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608529	NM_144498.4(OSBPL2):c.1149T>C (p.Thr383=)	OSBPL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1608002	NM_144498.4(OSBPL2):c.1442G>A (p.Ter481=)	OSBPL2 (E348K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1555543	NM_144498.4(OSBPL2):c.1035C>T (p.Asp345=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552632	NM_144498.4(OSBPL2):c.714C>T (p.Cys238=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531883	NM_144498.4(OSBPL2):c.182+8C>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1514815	NM_144498.4(OSBPL2):c.259-5T>C	OSBPL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1504899	NM_144498.4(OSBPL2):c.375G>T (p.Gln125His)	OSBPL2 (Q125H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476234	NM_144498.4(OSBPL2):c.607A>C (p.Lys203Gln)	OSBPL2 (K203Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462276	NM_144498.4(OSBPL2):c.851A>G (p.Glu284Gly)	OSBPL2 (E192G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457818	NM_144498.4(OSBPL2):c.1059C>T (p.Thr353=)	OSBPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433982	NM_144498.4(OSBPL2):c.872+6T>G	OSBPL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1349369	NM_144498.4(OSBPL2):c.5A>G (p.Asn2Ser)	OSBPL2 (N2S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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