dolichol hassjoo - ClinVar - NCBI

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The following term was not found in ClinVar: hassjoo.
Showing results for Dolichos hassjoo. Search instead for Dolichos hassjoo (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +3 more	GPathogenic
Select item 488194	NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter)	DHDDS (W64*)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation, type Ibb	GPathogenic
Select item 297841	NM_013339.4(ALG6):c.-221C>G	ALG6, LOC129930665	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874447	NM_013339.4(ALG6):c.-208+10T>C	ALG6, LOC129930665	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297842	NM_013339.4(ALG6):c.-207-12T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 874448	NM_013339.4(ALG6):c.-141A>G	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297843	NM_013339.4(ALG6):c.-136C>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297844	NM_013339.4(ALG6):c.-128C>T	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875355	NM_013339.4(ALG6):c.-121T>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875356	NM_013339.4(ALG6):c.-120C>T	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 554144	NM_013339.4(ALG6):c.1A>G (p.Met1Val)	ALG6 (M1V)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 558047	NM_013339.4(ALG6):c.2T>C (p.Met1Thr)	ALG6 (M1T)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2149219	NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)	ALG6 (E2K)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2160933	NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)	ALG6 (E2D)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1104318	NM_013339.4(ALG6):c.9A>G (p.Lys3=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2861045	NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)	ALG6 (W4*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 1568952	NM_013339.4(ALG6):c.15C>T (p.Tyr5=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1139744	NM_013339.4(ALG6):c.16T>C (p.Leu6=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2139834	NM_013339.4(ALG6):c.19A>G (p.Met7Val)	ALG6 (M7V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1915590	NM_013339.4(ALG6):c.20T>C (p.Met7Thr)	ALG6 (M7T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1716695	NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)	ALG6 (T8R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1543213	NM_013339.4(ALG6):c.24A>C (p.Thr8=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1352826	NM_013339.4(ALG6):c.26T>C (p.Val9Ala)	ALG6 (V9A)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2781818	NM_013339.4(ALG6):c.27A>C (p.Val9=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1030279	NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)	ALG6 (L12F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 854201	NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)	ALG6 (I13L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2064793	NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)	ALG6 (L15Q)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1613402	NM_013339.4(ALG6):c.51A>C (p.Val17=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 555747	NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	ALG6 (R18*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 552732	NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)	ALG6 (R18Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 755501	NM_013339.4(ALG6):c.54A>G (p.Arg18=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2675652	NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)	ALG6 (W19*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2992261	NM_013339.4(ALG6):c.60A>G (p.Thr20=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2748343	NM_013339.4(ALG6):c.63G>A (p.Val21=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1587185	NM_013339.4(ALG6):c.63G>T (p.Val21=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 555062	NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)	ALG6 (L23fs)	Insertion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 558193	NM_013339.4(ALG6):c.82_82+8del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2081106	NM_013339.4(ALG6):c.82+1G>A	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1091981	NM_013339.4(ALG6):c.82+7C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1969038	NM_013339.4(ALG6):c.82+8A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2008741	NM_013339.4(ALG6):c.82+9T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2718178	NM_013339.4(ALG6):c.82+12T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2865366	NM_013339.4(ALG6):c.82+13T>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2887267	NM_013339.4(ALG6):c.82+17G>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2992772	NM_013339.4(ALG6):c.82+18G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1622364	NM_013339.4(ALG6):c.82+19T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2862454	NM_013339.4(ALG6):c.83-20C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2017694	NM_013339.4(ALG6):c.83-9T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2062880	NM_013339.4(ALG6):c.83-8G>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1144466	NM_013339.4(ALG6):c.87T>C (p.Ala29=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1102517	NM_013339.4(ALG6):c.90T>C (p.Gly30=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1493494	NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)	ALG6 (P32L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 990161	NM_013339.4(ALG6):c.96G>A (p.Pro32=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2045342	NM_013339.4(ALG6):c.100_101del (p.Met34fs)	ALG6 (M34fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2144087	NM_013339.4(ALG6):c.100A>G (p.Met34Val)	ALG6 (M34V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1423806	NM_013339.4(ALG6):c.100A>C (p.Met34Leu)	ALG6 (M34L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875357	NM_013339.4(ALG6):c.101T>C (p.Met34Thr)	ALG6 (M34T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2202539	NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)	ALG6 (F35S)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2701240	NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)	ALG6 (G36D)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2675662	NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)	ALG6 (Y38*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 1457885	NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)	ALG6 (Q41*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2998678	NM_013339.4(ALG6):c.123G>A (p.Gln41=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1584192	NM_013339.4(ALG6):c.129C>T (p.His43=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1494623	NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)	ALG6 (W44R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2174318	NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)	ALG6 (E46G)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 3020609	NM_013339.4(ALG6):c.138A>G (p.Glu46=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2981930	NM_013339.4(ALG6):c.144T>A (p.Thr48=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2748650	NM_013339.4(ALG6):c.147del (p.Phe49fs)	ALG6 (F49fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 651010	NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	ALG6	Deletion (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 1152492	NM_013339.4(ALG6):c.150T>C (p.Asn50=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2160776	NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)	ALG6 (L51I)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2011125	NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)	ALG6 (P52S)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875358	NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)	ALG6 (P52L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297845	NM_013339.4(ALG6):c.156G>A (p.Pro52=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 5499	NM_013339.4(ALG6):c.167+5G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2865910	NM_013339.4(ALG6):c.167+7del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 297846	NM_013339.4(ALG6):c.167+7T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 1114133	NM_013339.4(ALG6):c.167+8A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2833916	NM_013339.4(ALG6):c.167+14A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1939384	NM_013339.4(ALG6):c.167+15A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1945199	NM_013339.4(ALG6):c.167+19G>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1598822	NM_013339.4(ALG6):c.168-17C>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GBenign
Select item 1533431	NM_013339.4(ALG6):c.168-15T>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1612356	NM_013339.4(ALG6):c.168-9C>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1123791	NM_013339.4(ALG6):c.168-5T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2675697	NM_013339.4(ALG6):c.168-1G>A	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2729920	NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)	ALG6 (W56*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2102157	NM_013339.4(ALG6):c.171T>C (p.Tyr57=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1405663	NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter)	ALG6 (Y57*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 557002	NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	ALG6 (Y57*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2131544	NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)	ALG6 (S60G)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1387203	NM_013339.4(ALG6):c.178A>C (p.Ser60Arg)	ALG6 (S60R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2118512	NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)	ALG6 (S60R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 553295	NM_013339.4(ALG6):c.189_191del (p.Asn64del)	ALG6 (N64del)	Deletion (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1620972	NM_013339.4(ALG6):c.192T>C (p.Asn64=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1602724	NM_013339.4(ALG6):c.201T>C (p.Tyr67=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1157378	NM_013339.4(ALG6):c.208T>C (p.Leu70=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1623849	NM_013339.4(ALG6):c.213T>C (p.Asp71=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1449870	NM_013339.4(ALG6):c.218C>T (p.Pro73Leu)	ALG6 (P73L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1563543	NM_013339.4(ALG6):c.219A>T (p.Pro73=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign

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