ClinVar for MedGen (Select 481405) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1077

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023857	NM_176787.5(PIGN):c.1675-5A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3021753	NM_176787.5(PIGN):c.923-1G>T	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 3020315	NM_176787.5(PIGN):c.179dup (p.Tyr60Ter)	PIGN (Y60*)	Duplication (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3018794	NM_176787.5(PIGN):c.1116+11A>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3018757	NM_176787.5(PIGN):c.273A>T (p.Pro91=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3016726	NM_176787.5(PIGN):c.1173-9T>A	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3016707	NM_176787.5(PIGN):c.2565A>G (p.Leu855=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3014074	NM_176787.5(PIGN):c.2577-15T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3013522	NM_176787.5(PIGN):c.2427-12A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3012886	NM_176787.5(PIGN):c.912A>G (p.Ala304=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3011492	NM_176787.5(PIGN):c.1023+19T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3008985	NM_176787.5(PIGN):c.2078-18del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3007257	NM_176787.5(PIGN):c.222-1G>A	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 3007020	NM_176787.5(PIGN):c.1656C>G (p.Thr552=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3006578	NM_176787.5(PIGN):c.923-19G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3004205	NM_176787.5(PIGN):c.1342G>T (p.Val448Phe)	PIGN (V448F)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2999108	NM_176787.5(PIGN):c.1377T>G (p.Ser459=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2996565	NM_176787.5(PIGN):c.465T>A (p.Tyr155Ter)	PIGN (Y155*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2994558	NM_176787.5(PIGN):c.1311A>T (p.Thr437=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2990484	NM_176787.5(PIGN):c.2371-1G>T	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 2987732	NM_176787.5(PIGN):c.813T>C (p.His271=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2986031	NM_176787.5(PIGN):c.351G>A (p.Lys117=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2986001	NM_176787.5(PIGN):c.2672+16del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2985983	NM_176787.5(PIGN):c.917dup (p.Leu306fs)	PIGN (L306fs)	Duplication (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2979297	NM_176787.5(PIGN):c.1574+18C>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2979227	NM_176787.5(PIGN):c.1575-11A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2978265	NM_176787.5(PIGN):c.2298G>A (p.Gln766=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2976346	NM_176787.5(PIGN):c.1556G>A (p.Trp519Ter)	PIGN (W519*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2975177	NM_176787.5(PIGN):c.443-6T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2973418	NM_176787.5(PIGN):c.435T>C (p.Phe145=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2972898	NM_176787.5(PIGN):c.895C>T (p.Gln299Ter)	PIGN (Q299*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2972897	NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)	PIGN (Q370P)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 2972896	NM_176787.5(PIGN):c.1172+1G>A	PIGN	Single nucleotide variant (splice donor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2971943	NM_176787.5(PIGN):c.2292T>C (p.Ser764=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2971786	NM_176787.5(PIGN):c.550-5T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2971782	NM_176787.5(PIGN):c.922+19T>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2971473	NM_176787.5(PIGN):c.2181-4T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2970903	NM_176787.5(PIGN):c.718G>T (p.Glu240Ter)	PIGN (E240*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2970732	NM_176787.5(PIGN):c.1969-18T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2969362	NM_176787.5(PIGN):c.1921A>T (p.Arg641Ter)	PIGN (R641*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2968617	NM_176787.5(PIGN):c.1574+13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2961964	NM_176787.5(PIGN):c.2284-9A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2959573	NM_176787.5(PIGN):c.2498G>A (p.Trp833Ter)	PIGN (W833*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2959306	NM_176787.5(PIGN):c.1407T>C (p.Leu469=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2958611	NM_176787.5(PIGN):c.221+16G>T	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2955004	NM_176787.5(PIGN):c.1173-9del	LOC132090498, PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GBenign
Select item 2954900	NM_176787.5(PIGN):c.2706C>T (p.Thr902=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2920964	NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)	PIGN (A17T)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2919458	NM_176787.5(PIGN):c.941G>A (p.Trp314Ter)	PIGN (W314*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2918577	NM_176787.5(PIGN):c.424C>T (p.Leu142=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2917945	NM_176787.5(PIGN):c.492G>A (p.Glu164=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2916404	NC_000018.10:g.62085265del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2916403	NM_176787.5(PIGN):c.2619+12C>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2915827	NM_176787.5(PIGN):c.2514C>T (p.Pro838=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2915348	NM_176787.5(PIGN):c.1533T>C (p.Tyr511=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2914921	NM_176787.5(PIGN):c.963+16T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2914212	NM_176787.5(PIGN):c.1024-17G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2912574	NM_176787.5(PIGN):c.1768-13T>G	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2910935	NM_176787.5(PIGN):c.1173-13T>C	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2910853	NM_176787.5(PIGN):c.1969-4T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2909231	NM_176787.5(PIGN):c.2619+15G>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2906828	NM_176787.5(PIGN):c.923-13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2904701	NM_176787.5(PIGN):c.2511C>T (p.Ile837=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2903446	NM_176787.5(PIGN):c.2077+9C>T	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2899348	NM_176787.5(PIGN):c.1257C>T (p.Ser419=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2898960	NM_176787.5(PIGN):c.2237_2238del (p.Ile746fs)	PIGN (I746fs)	Deletion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2897822	NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)	PIGN (E201fs)	Insertion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2897700	NM_176787.5(PIGN):c.2576+14_2576+17del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2897278	NM_176787.5(PIGN):c.1151dup (p.Phe385fs)	PIGN (F385fs)	Duplication (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2897116	NM_176787.5(PIGN):c.1224T>C (p.Tyr408=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2897000	NM_176787.5(PIGN):c.1575-23_1575-20del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2894993	NM_176787.5(PIGN):c.1671A>G (p.Val557=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2892425	NM_176787.5(PIGN):c.1674+15A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2891516	NM_176787.5(PIGN):c.861A>G (p.Gly287=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2889198	NM_176787.5(PIGN):c.1650C>G (p.Ala550=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2887681	NM_176787.5(PIGN):c.159C>T (p.Gly53=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2887150	NM_176787.5(PIGN):c.2503-11T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2883058	NM_176787.5(PIGN):c.221+19A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2883025	NM_176787.5(PIGN):c.399A>G (p.Thr133=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2881794	NM_176787.5(PIGN):c.2284-18T>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2881126	NM_176787.5(PIGN):c.2181-20T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2878200	NM_176787.5(PIGN):c.1969-8G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2875611	NM_176787.5(PIGN):c.2256A>G (p.Gln752=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2873031	NM_176787.5(PIGN):c.344-19G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2872390	NM_176787.5(PIGN):c.675-11T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2872193	NM_176787.5(PIGN):c.831A>G (p.Ser277=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2870314	NM_176787.5(PIGN):c.1609T>C (p.Leu537=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 2869579	NM_176787.5(PIGN):c.1473T>C (p.Ile491=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2869043	NM_176787.5(PIGN):c.1026A>T (p.Gly342=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2868582	NM_176787.5(PIGN):c.477T>C (p.Tyr159=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2865265	NM_176787.5(PIGN):c.2620-19C>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2864855	NM_176787.5(PIGN):c.1716T>C (p.Leu572=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2864251	NM_176787.5(PIGN):c.2502+9T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2864209	NM_176787.5(PIGN):c.805+15_805+18del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2864046	NM_176787.5(PIGN):c.1768-6T>C	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2864023	NM_176787.5(PIGN):c.2371-17T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2863941	NM_176787.5(PIGN):c.675-17del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2863862	NM_176787.5(PIGN):c.1251+11C>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2863781	NM_176787.5(PIGN):c.1311A>G (p.Thr437=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2863228	NM_176787.5(PIGN):c.222-4T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign

<< First< Prev

Page of 11