ClinVar for MedGen (Select 443955) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3774561	NM_024740.2(ALG9):c.417T>A (p.Phe139Leu)	ALG9 (F139L)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3730397	NM_024740.2(ALG9):c.1602+14del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3728411	NM_012463.4(ATP6V0A2):c.825+9G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3726514	NM_012463.4(ATP6V0A2):c.295-7G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3719261	NM_012463.4(ATP6V0A2):c.1644C>T (p.Asn548=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3717886	NM_012463.4(ATP6V0A2):c.1326+13dup	ATP6V0A2	Duplication (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3717124	NM_012463.4(ATP6V0A2):c.381G>A (p.Glu127=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3715757	NM_012463.4(ATP6V0A2):c.117+7del	LOC130009117, ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3711586	NM_012463.4(ATP6V0A2):c.1725-19G>T	ATP6V0A2, LOC126861666	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3709223	NM_024740.2(ALG9):c.1665G>A (p.Glu555=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3708928	NM_024740.2(ALG9):c.132-13_132-12insTG	ALG9	Insertion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3708300	NM_012463.4(ATP6V0A2):c.1724+5G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3707350	NM_012463.4(ATP6V0A2):c.165G>C (p.Val55=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3707216	NM_012463.4(ATP6V0A2):c.522-11C>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3706136	NM_012463.4(ATP6V0A2):c.913del (p.Lys304_Met305insTer)	ATP6V0A2	Deletion (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3704845	NM_012463.4(ATP6V0A2):c.1101C>G (p.Pro367=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3703750	NM_024740.2(ALG9):c.895+11G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3703717	NM_024740.2(ALG9):c.702-11C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3702923	NM_024740.2(ALG9):c.551T>G (p.Phe184Cys)	ALG9 (F13C +1 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3693925	NM_012463.4(ATP6V0A2):c.117+10G>T	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3688722	NM_012463.4(ATP6V0A2):c.606G>A (p.Val202=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3683971	NM_012463.4(ATP6V0A2):c.2176-14G>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3683082	NM_012463.4(ATP6V0A2):c.2154T>C (p.Cys718=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3682961	NM_024740.2(ALG9):c.100C>T (p.Arg34Ter)	ALG9, LOC130006752 (R34*)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3682643	NM_012463.4(ATP6V0A2):c.1514+16C>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3681777	NM_012463.4(ATP6V0A2):c.714T>A (p.Val238=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3676310	NM_012463.4(ATP6V0A2):c.309G>A (p.Lys103=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3674761	NM_024740.2(ALG9):c.1602+12A>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3674447	NM_012463.4(ATP6V0A2):c.1519_1540dup (p.Ile514delinsLysArgArgTer)	ATP6V0A2	Duplication (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3666942	NM_012463.4(ATP6V0A2):c.2277T>C (p.Leu759=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3666941	NM_012463.4(ATP6V0A2):c.295-4T>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3665027	NM_024740.2(ALG9):c.126del (p.Thr43fs)	ALG9, LOC130006752 (T43fs)	Deletion (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3663412	NM_012463.4(ATP6V0A2):c.924C>T (p.Ile308=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3662114	NM_024740.2(ALG9):c.816C>T (p.Tyr272=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3661318	NM_012463.4(ATP6V0A2):c.594G>A (p.Gly198=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3658823	NM_012463.4(ATP6V0A2):c.986G>A (p.Trp329Ter)	ATP6V0A2 (W329*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3656725	NM_024740.2(ALG9):c.1441C>T (p.Arg481Ter)	ALG9 (R310* +6 more)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3656463	NM_012463.4(ATP6V0A2):c.2055+8C>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3655139	NM_012463.4(ATP6V0A2):c.2089G>A (p.Glu697Lys)	ATP6V0A2 (E697K)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3654730	NM_012463.4(ATP6V0A2):c.57G>A (p.Ser19=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3638243	NM_012463.4(ATP6V0A2):c.1725-6T>G	LOC126861666, ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3636993	NM_012463.4(ATP6V0A2):c.112C>T (p.Arg38Ter)	LOC130009117, ATP6V0A2 (R38*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3633271	NM_012463.4(ATP6V0A2):c.2537C>T (p.Ser846Leu)	ATP6V0A2 (S846L)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3633000	NM_024740.2(ALG9):c.405+13C>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3631341	NM_012463.4(ATP6V0A2):c.894T>C (p.Arg298=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3627324	NM_012463.4(ATP6V0A2):c.2127G>A (p.Glu709=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3626956	NM_012463.4(ATP6V0A2):c.219T>C (p.Asn73=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3620576	NM_012463.4(ATP6V0A2):c.118-12T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3620351	NM_012463.4(ATP6V0A2):c.826G>C (p.Val276Leu)	ATP6V0A2 (V276L)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3619945	NM_012463.4(ATP6V0A2):c.521+11del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3615164	NM_012463.4(ATP6V0A2):c.1101C>T (p.Pro367=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3607220	NM_024740.2(ALG9):c.218C>T (p.Ala73Val)	ALG9 (A73V)	Single nucleotide variant (missense variant +3 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3606675	NM_012463.4(ATP6V0A2):c.2055+15G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3603881	NM_012463.4(ATP6V0A2):c.339G>A (p.Lys113=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3603675	NM_012463.4(ATP6V0A2):c.196+11T>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3598992	NM_024740.2(ALG9):c.563C>G (p.Ser188Ter)	ALG9 (S17* +1 more)	Single nucleotide variant (nonsense +2 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598991	NM_024740.2(ALG9):c.523G>A (p.Ala175Thr)	ALG9 (A175T +1 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598990	NM_024740.2(ALG9):c.530T>A (p.Leu177Ter)	ALG9 (L177* +1 more)	Single nucleotide variant (nonsense +2 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598989	NM_024740.2(ALG9):c.532G>A (p.Val178Ile)	ALG9 (V178I +1 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598988	NM_024740.2(ALG9):c.608C>A (p.Ala203Asp)	ALG9 (A7D +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598987	NM_024740.2(ALG9):c.610A>G (p.Met204Val)	ALG9 (M8V +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598986	NM_024740.2(ALG9):c.638C>A (p.Ser213Tyr)	ALG9 (S17Y +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598985	NM_024740.2(ALG9):c.643G>T (p.Ala215Ser)	ALG9 (A215S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598984	NM_024740.2(ALG9):c.670A>C (p.Ile224Leu)	ALG9 (I224L +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598983	NM_024740.2(ALG9):c.670A>G (p.Ile224Val)	ALG9 (I224V +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598982	NM_024740.2(ALG9):c.677G>C (p.Gly226Ala)	ALG9 (G226A +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598981	NM_024740.2(ALG9):c.704del (p.Leu235fs)	ALG9 (L64fs +2 more)	Deletion (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598980	NM_024740.2(ALG9):c.715T>A (p.Phe239Ile)	ALG9 (F43I +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598978	NM_024740.2(ALG9):c.775C>T (p.Leu259Phe)	ALG9 (L88F +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598977	NM_024740.2(ALG9):c.780A>G (p.Ile260Met)	ALG9 (I89M +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598976	NM_024740.2(ALG9):c.789+1G>A	ALG9	Single nucleotide variant (splice donor variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598975	NM_024740.2(ALG9):c.854T>C (p.Val285Ala)	ALG9 (V114A +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598974	NM_024740.2(ALG9):c.871A>G (p.Thr291Ala)	ALG9 (T120A +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598973	NM_024740.2(ALG9):c.896-12T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598972	NM_024740.2(ALG9):c.904C>G (p.Pro302Ala)	ALG9 (P106A +2 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598971	NM_024740.2(ALG9):c.907T>A (p.Trp303Arg)	ALG9 (W107R +2 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598970	NM_024740.2(ALG9):c.1075A>G (p.Ile359Val)	ALG9 (I318V +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598969	NM_024740.2(ALG9):c.1079T>C (p.Ile360Thr)	ALG9 (I148T +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598968	NM_024740.2(ALG9):c.1094C>T (p.Pro365Leu)	ALG9 (P153L +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598967	NM_024740.2(ALG9):c.1141C>G (p.Leu381Val)	ALG9 (L340V +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598966	NM_024740.2(ALG9):c.1209dup (p.Val404fs)	ALG9 (V185fs +6 more)	Duplication (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598965	NM_024740.2(ALG9):c.1250C>T (p.Ser417Leu)	ALG9 (S214L +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598964	NM_024740.2(ALG9):c.1324+2T>C	ALG9	Single nucleotide variant (splice donor variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598962	NM_024740.2(ALG9):c.1378C>G (p.Pro460Ala)	ALG9 (P257A +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598961	NM_024740.2(ALG9):c.1381A>G (p.Thr461Ala)	ALG9 (T242A +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598960	NM_024740.2(ALG9):c.1425G>A (p.Val475=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598959	NM_024740.2(ALG9):c.1496C>G (p.Ser499Ter)	ALG9 (S296* +6 more)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598958	NM_024740.2(ALG9):c.1500G>T (p.Glu500Asp)	ALG9 (E493D +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598957	NM_024740.2(ALG9):c.1532A>G (p.Glu511Gly)	ALG9 (E308G +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598956	NM_024740.2(ALG9):c.1602+1G>A	ALG9	Single nucleotide variant (splice donor variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598955	NM_024740.2(ALG9):c.1605_1608del	ALG9	Deletion	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598954	NM_024740.2(ALG9):c.1610T>C (p.Ile537Thr)	ALG9 (I489T +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598953	NM_024740.2(ALG9):c.1651G>T (p.Glu551Ter)	ALG9 (E348* +6 more)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 3598952	NM_024740.2(ALG9):c.1657C>T (p.Pro553Ser)	ALG9 (P553S +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598951	NM_024740.2(ALG9):c.1719C>A (p.Phe573Leu)	ALG9 (F370L +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3598950	NM_024740.2(ALG9):c.1733+1G>A	ALG9	Single nucleotide variant (splice donor variant)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3574387	NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer)	ATP6V0A2	Deletion (nonsense)	ALG9 congenital disorder of glycosylation +2 more	GPathogenic
Select item 3376612	NM_024740.2(ALG9):c.1364G>A (p.Arg455Gln)	ALG9 (R236Q +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3111433	NM_024740.2(ALG9):c.1819C>T (p.Arg607Trp)	ALG9 (R404W +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 3066316	NM_024740.2(ALG9):c.65_66insTC (p.Ala23fs)	ALG9, LOC130006752 (A23fs)	Insertion (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely pathogenic

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