ClinVar for MedGen (Select 370203) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243064	NC_000017.10:g.(?_61805674)_(61805729_?)del	STRADA	Deletion	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 3012866	NM_001003787.4(STRADA):c.754-14T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 3005190	NM_001003787.4(STRADA):c.754-14T>A	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2972976	NM_001003787.4(STRADA):c.124-16T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2963837	NM_001003787.4(STRADA):c.15A>G (p.Val5=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2959586	NM_001003787.4(STRADA):c.1100+7C>T	STRADA	Single nucleotide variant (3 prime UTR variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2957755	NM_001003787.4(STRADA):c.226+18C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2955758	NM_001003787.4(STRADA):c.1101-8C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2891952	NM_001003787.4(STRADA):c.859-6C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2889197	NM_001003787.4(STRADA):c.581+11A>C	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2886465	NM_001003787.4(STRADA):c.349-12C>G	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2885215	NM_001003787.4(STRADA):c.1008C>T (p.Asn336=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2879968	NM_001003787.4(STRADA):c.1143+16C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2879816	NM_001003787.4(STRADA):c.859-20C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2860350	NM_001003787.4(STRADA):c.1101-17C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2856992	NM_001003787.4(STRADA):c.349-17T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2831673	NM_001003787.4(STRADA):c.858+12_858+14del	STRADA	Microsatellite (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2830859	NM_001003787.4(STRADA):c.39G>A (p.Arg13=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2830503	NM_001003787.4(STRADA):c.753+9G>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2826366	NM_001003787.4(STRADA):c.645C>T (p.Arg215=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2825940	NM_001003787.4(STRADA):c.141A>G (p.Ser47=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2824975	NM_001003787.4(STRADA):c.732C>T (p.Leu244=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2822228	NM_001003787.4(STRADA):c.723G>A (p.Leu241=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2818626	NM_001003787.4(STRADA):c.978C>A (p.Ser326Arg)	STRADA (S282R +5 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2818625	NM_001003787.4(STRADA):c.1090C>G (p.Pro364Ala)	STRADA (P327A +4 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2817029	NM_001003787.4(STRADA):c.754-13T>A	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2816116	NM_001003787.4(STRADA):c.526C>T (p.Leu176=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2808763	NM_001003787.4(STRADA):c.349-14A>G	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2806210	NM_001003787.4(STRADA):c.582-14C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2803464	NM_001003787.4(STRADA):c.349-15C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2799394	NM_001003787.4(STRADA):c.582-17C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2795455	NM_001003787.4(STRADA):c.581+16G>C	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2790856	NM_001003787.4(STRADA):c.751C>T (p.Gln251Ter)	STRADA (Q222* +5 more)	Single nucleotide variant (nonsense +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 2790275	NM_001003787.4(STRADA):c.582-12C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2789732	NM_001003787.4(STRADA):c.375C>T (p.Phe125=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2787016	NM_001003787.4(STRADA):c.859-16G>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2783910	NM_001003787.4(STRADA):c.582-5C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2783760	NM_001003787.4(STRADA):c.1100+19G>A	STRADA	Single nucleotide variant (3 prime UTR variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2782891	NM_001003787.4(STRADA):c.507G>A (p.Glu169=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2772418	NM_001003787.4(STRADA):c.633G>A (p.Leu211=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2770915	NM_001003787.4(STRADA):c.816G>C (p.Leu272=)	STRADA (W215S)	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2769032	NM_001003787.4(STRADA):c.124-12T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2762146	NM_001003787.4(STRADA):c.458-5T>C	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2754041	NM_001003787.4(STRADA):c.1100+13G>A	STRADA (W334*)	Single nucleotide variant (3 prime UTR variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2749405	NM_001003787.4(STRADA):c.630C>G (p.Tyr210Ter)	STRADA (Y152* +5 more)	Single nucleotide variant (nonsense +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 2748287	NM_001003787.4(STRADA):c.981G>A (p.Leu327=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2746456	NM_001003787.4(STRADA):c.1143+16_1143+17insATTCTG	STRADA	Insertion (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2740609	NM_001003787.4(STRADA):c.348+10C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2733147	NM_001003787.4(STRADA):c.458-17G>A	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2725401	NM_001003787.4(STRADA):c.522C>T (p.Tyr174=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2718259	NM_001003787.4(STRADA):c.458-18T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2708115	NM_001003787.4(STRADA):c.36+9T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2704723	NM_001003787.4(STRADA):c.156del (p.Phe53fs)	STRADA (F16fs +3 more)	Deletion (frameshift variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 2701469	NM_001003787.4(STRADA):c.348+13G>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2700850	NM_001003787.4(STRADA):c.101del (p.Pro34fs)	STRADA (P34fs +1 more)	Deletion (frameshift variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 2593515	NM_001003787.4(STRADA):c.880G>A (p.Gly294Ser)	STRADA (G250S +5 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more	GUncertain significance
Select item 2199348	NM_001003787.4(STRADA):c.1282G>A (p.Asp428Asn)	STRADA (D428N +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2193796	NM_001003787.4(STRADA):c.936G>A (p.Met312Ile)	STRADA (M275I +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2188152	NM_001003787.4(STRADA):c.267G>A (p.Arg89=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2187246	NM_001003787.4(STRADA):c.1173C>T (p.Pro391=)	STRADA (R289*)	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2180340	NM_001003787.4(STRADA):c.95-11C>A	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2180325	NM_001003787.4(STRADA):c.1240A>G (p.Ile414Val)	STRADA (I356V +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2169386	NM_001003787.4(STRADA):c.63T>C (p.Val21=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2167331	NM_001003787.4(STRADA):c.95-18T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2164953	NM_001003787.4(STRADA):c.1242C>A (p.Ile414=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2157515	NM_001003787.4(STRADA):c.582-11C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2156723	NM_001003787.4(STRADA):c.1100+6C>T	STRADA (P332L)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2155321	NM_001003787.4(STRADA):c.1278G>A (p.Val426=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2152725	NM_001003787.4(STRADA):c.348+14A>G	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2144650	NM_001003787.4(STRADA):c.226+16G>A	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2142135	NM_001003787.4(STRADA):c.420C>A (p.Asp140Glu)	STRADA (D103E +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2139542	NM_001003787.4(STRADA):c.754-18C>G	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2130014	NM_001003787.4(STRADA):c.519T>C (p.Ala173=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2129505	NM_001003787.4(STRADA):c.271A>G (p.Lys91Glu)	STRADA (K33E +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2128101	NM_001003787.4(STRADA):c.1091del (p.Pro364fs)	STRADA (P306fs +4 more)	Deletion (frameshift variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2124692	NM_001003787.4(STRADA):c.859-9C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2119902	NM_001003787.4(STRADA):c.227-13del	STRADA	Deletion (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2115425	NM_001003787.4(STRADA):c.612T>G (p.Ser204=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2114483	NM_001003787.4(STRADA):c.263C>T (p.Ala88Val)	STRADA (A30V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2113817	NM_001003787.4(STRADA):c.33C>T (p.Ile11=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2108051	NM_001003787.4(STRADA):c.897G>T (p.Leu299=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2105284	NM_001003787.4(STRADA):c.964G>A (p.Gly322Ser)	STRADA (G293S +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2101203	NM_001003787.4(STRADA):c.498C>T (p.Gly166=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2097725	NM_001003787.4(STRADA):c.485A>G (p.His162Arg)	LOC125312417, STRADA (H118R +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2096201	NM_001003787.4(STRADA):c.581+3G>A	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2095523	NM_001003787.4(STRADA):c.365C>G (p.Ser122Cys)	STRADA (S93C +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2090499	NM_001003787.4(STRADA):c.423T>C (p.Asn141=)	STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2086626	NM_001003787.4(STRADA):c.754-17T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2081343	NM_001003787.4(STRADA):c.227-6T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2074680	NM_001003787.4(STRADA):c.207C>G (p.Tyr69Ter)	STRADA (Y32* +4 more)	Single nucleotide variant (nonsense +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 2068485	NM_001003787.4(STRADA):c.1260C>T (p.Asn420=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2062669	NM_001003787.4(STRADA):c.556A>G (p.Ile186Val)	LOC125312417, STRADA (I128V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2049943	NM_001003787.4(STRADA):c.845T>C (p.Met282Thr)	STRADA (M238T +6 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2046100	NM_001003787.4(STRADA):c.1091C>T (p.Pro364Leu)	STRADA (P356L +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2041380	NM_001003787.4(STRADA):c.1045T>G (p.Ser349Ala)	STRADA (S291A +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2024937	NM_001003787.4(STRADA):c.458-1G>A	LOC125312417, STRADA	Single nucleotide variant (splice acceptor variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely pathogenic
Select item 2024812	NM_001003787.4(STRADA):c.124-15C>A	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2018309	NM_001003787.4(STRADA):c.124-10T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2015026	NM_001003787.4(STRADA):c.1254A>T (p.Val418=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 2012443	NM_001003787.4(STRADA):c.668A>C (p.His223Pro)	STRADA (H223P +5 more)	Single nucleotide variant (missense variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance

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