ClinVar for MedGen (Select 419514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676065	NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)	HPS1 (K251* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676064	NM_000195.5(HPS1):c.141dup (p.Ser48fs)	HPS1 (S48fs)	Duplication (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676063	NM_000195.5(HPS1):c.1519dup (p.Gln507fs)	HPS1 (Q183fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676062	NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)	HPS1 (Q270* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676061	NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)	HPS1 (R323fs +6 more)	Insertion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676060	NM_000195.5(HPS1):c.1084del (p.Cys362fs)	HPS1 (C206fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676059	NM_000195.5(HPS1):c.669-1G>C	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676058	NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)	HPS1 (R267fs +6 more)	Indel (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676057	NM_000195.5(HPS1):c.807del (p.Val270fs)	HPS1 (P230fs +3 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676056	NM_000195.5(HPS1):c.1335+1G>A	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676055	NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)	HPS1 (R267* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2676054	NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)	HPS1 (E100*)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676053	NM_000195.5(HPS1):c.721del (p.Val241fs)	HPS1 (V118fs +3 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676052	NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)	HPS1 (L243fs +3 more)	Indel (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676051	NM_000195.5(HPS1):c.668+1G>A	HPS1	Single nucleotide variant (splice donor variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676050	NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)	HPS1 (L217fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676049	NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)	HPS1 (T353fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676048	NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)	HPS1 (R107fs +6 more)	Indel (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676047	NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)	HPS1 (Q145* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676046	NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)	HPS1 (Q133* +2 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676045	NM_000195.5(HPS1):c.1065del (p.Asn356fs)	HPS1 (N200fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676044	NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)	HPS1	Microsatellite (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676043	NM_000195.5(HPS1):c.595_601del (p.Pro199fs)	HPS1 (P199fs +1 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676041	NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)	HPS1 (K108*)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676040	NM_000195.5(HPS1):c.1198del (p.Asp400fs)	HPS1 (D244fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676039	NM_000195.5(HPS1):c.533del (p.Gln178fs)	HPS1 (Q178fs +1 more)	Deletion (frameshift variant +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic
Select item 2676037	NM_000195.5(HPS1):c.2095dup (p.Leu699fs)	HPS1 (L375fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2676036	NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)	HPS1 (V225fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2627092	NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)	HPS1 (P147Q +7 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 2440747	NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)	HPS1 (W146* +1 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 2432531	NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)	HPS1 (K202M +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 2164818	NM_000195.5(HPS1):c.987+1G>A	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely pathogenic
Select item 2154613	NM_000195.5(HPS1):c.1777del (p.Leu593fs)	HPS1 (L506fs +6 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1703526	GRCh37/hg19 10q24.2(chr10:100202251-100203482)	HPS1	Copy number loss	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1695378	NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys)	HPS1 (R372C +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1	GUncertain significance
Select item 1684358	NM_000195.5(HPS1):c.689G>A (p.Arg230His)	HPS1 (A191T +3 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1684357	NM_000195.5(HPS1):c.610G>T (p.Glu204Ter)	HPS1 (E204* +1 more)	Single nucleotide variant (nonsense +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic
Select item 1663992	NM_000195.5(HPS1):c.1533-17C>T	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1651055	NM_000195.5(HPS1):c.498C>T (p.Phe166=)	HPS1 (R119C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1641233	NM_000195.5(HPS1):c.118-19T>A	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1639471	NM_000195.5(HPS1):c.1532+14G>A	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1637661	NM_000195.5(HPS1):c.507+14G>A	HPS1 (R174H)	Single nucleotide variant (5 prime UTR variant +3 more)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1624644	NM_000195.5(HPS1):c.1598+11G>A	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1598417	NM_000195.5(HPS1):c.1533-16G>A	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1564562	NM_000195.5(HPS1):c.1532+13C>T	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1557850	NM_000195.5(HPS1):c.867+11T>C	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1507519	NM_000195.5(HPS1):c.699C>A (p.Asp233Glu)	HPS1 (D110E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1479929	NM_000195.5(HPS1):c.316C>T (p.Arg106Trp)	HPS1 (R106W)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 1464486	NM_000195.5(HPS1):c.1593G>C (p.Met531Ile)	HPS1 (M408I +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1452567	NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	HPS1 (L239P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1445812	NM_000195.5(HPS1):c.1473dup (p.Ser492fs)	HPS1 (S336fs +6 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1426340	NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)	HPS1 (R476P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1419463	NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu)	HPS1 (S242L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1417567	NM_000195.5(HPS1):c.419C>T (p.Ala140Val)	HPS1 (A17V +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1416237	NM_000195.5(HPS1):c.937G>A (p.Gly313Ser)	HPS1 (G226S +5 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1410206	NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu)	HPS1 (P540L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1405938	NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)	HPS1 (I130T)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1386757	NM_000195.5(HPS1):c.1118C>A (p.Pro373His)	HPS1 (P217H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1378710	NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)	HPS1 (L28Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1367624	NM_000195.5(HPS1):c.201C>G (p.Asp67Glu)	HPS1 (D67E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1358736	NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser)	HPS1 (R194S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355628	NM_000195.5(HPS1):c.1940+2T>C	HPS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1341397	NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)	HPS1 (Q181* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1341386	NM_000195.5(HPS1):c.1858-1G>A	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1341380	NM_000195.5(HPS1):c.962del (p.Gly321fs)	HPS1 (G165fs +5 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1341379	NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter)	HPS1 (R115* +6 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1341378	NM_000195.5(HPS1):c.1375del (p.Ser459fs)	HPS1 (S303fs +6 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1338329	NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)	HPS1 (I157fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1336113	NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg)	HPS1 (P249R +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +2 more	GUncertain significance
Select item 1324542	NM_000195.5(HPS1):c.1857+1G>A	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely pathogenic
Select item 1324541	NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)	HPS1 (C3*)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1311057	NM_000195.5(HPS1):c.1294A>T (p.Met432Leu)	HPS1 (M108L +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1310667	NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)	HPS1 (L5F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1309349	NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn)	HPS1 (D309N +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1306248	NM_000195.5(HPS1):c.760G>A (p.Asp254Asn)	HPS1 (D131N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1188296	NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)	HPS1 (G160R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1180583	NM_000195.5(HPS1):c.118-54A>T	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 1180572	NM_000195.5(HPS1):c.768+64A>G	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 1180571	NM_000195.5(HPS1):c.937+88C>T	HPS1 (P270S +1 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 1180570	NM_000195.5(HPS1):c.937+192T>C	HPS1	Single nucleotide variant (intron variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GBenign
Select item 1179029	NM_000195.5(HPS1):c.780dup (p.Arg261fs)	HPS1 (G222fs +3 more)	Duplication (intron variant +2 more)	Hermansky-Pudlak syndrome 1	GPathogenic/Likely pathogenic
Select item 1147627	NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)	HPS1 (A146V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1141642	NM_000195.5(HPS1):c.399-5C>T	HPS1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1136706	NM_000195.5(HPS1):c.1860G>A (p.Gly620=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1134391	NM_000195.5(HPS1):c.909A>G (p.Pro303=)	HPS1 (Q231R +1 more)	Single nucleotide variant (synonymous variant +2 more)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1107311	NM_000195.5(HPS1):c.507+15C>T	HPS1 (R127W)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 1102527	NM_000195.5(HPS1):c.1383C>T (p.Pro461=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1099421	NM_000195.5(HPS1):c.1533-6C>T	HPS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1093167	NM_000195.5(HPS1):c.570C>T (p.His190=)	HPS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1084199	NM_000195.5(HPS1):c.1239G>A (p.Pro413=)	HPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1082298	NM_000195.5(HPS1):c.1245C>T (p.Pro415=)	HPS1	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 1 +1 more	GLikely benign
Select item 1074133	NM_000195.5(HPS1):c.988-1G>T	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1070980	NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)	HPS1 (Q149* +2 more)	Single nucleotide variant (nonsense +3 more)	Hermansky-Pudlak syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1068714	NM_000195.5(HPS1):c.1925del (p.Gly642fs)	HPS1 (G318fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1063997	NM_000195.5(HPS1):c.1766C>T (p.Ala589Val)	HPS1 (A265V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1063283	NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)	HPS1 (P136L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1049595	NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)	HPS1 (S349P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance
Select item 1032251	NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer)	HPS1	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 1	GLikely pathogenic
Select item 1032250	NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro)	HPS1 (L264P +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome +1 more	GUncertain significance
Select item 1010049	NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)	HPS1 (S158G +5 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 1 +1 more	GUncertain significance

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