Related gene-specific medical variations for Gene (Select 92335) - ClinVar

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Items: 38

	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 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 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 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 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 2762146	NM_001003787.4(STRADA):c.458-5T>C	STRADA, LOC125312417	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 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 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 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 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 1989743	NM_001003787.4(STRADA):c.491T>C (p.Met164Thr)	LOC125312417, STRADA (M120T +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1598118	NM_001003787.4(STRADA):c.581+15G>A	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1552371	NM_001003787.4(STRADA):c.581+14C>T	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1467541	NM_001003787.4(STRADA):c.564C>T (p.His188=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1456688	NM_001003787.4(STRADA):c.510G>A (p.Leu170=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1452310	NM_001003787.4(STRADA):c.491del (p.Met164fs)	LOC125312417, STRADA (M127fs +5 more)	Deletion (frameshift variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 1422764	NM_001003787.4(STRADA):c.458-3C>T	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1349012	NM_001003787.4(STRADA):c.466A>G (p.Lys156Glu)	LOC125312417, STRADA (K112E +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1154456	NM_001003787.4(STRADA):c.581+8C>T	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1123779	NM_001003787.4(STRADA):c.540G>A (p.Leu180=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1087426	NM_001003787.4(STRADA):c.552C>T (p.Asp184=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1081356	NM_001003787.4(STRADA):c.513G>T (p.Ala171=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1005256	NM_001003787.4(STRADA):c.512C>T (p.Ala171Val)	LOC125312417, STRADA (A113V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 793580	NM_001003787.4(STRADA):c.537G>T (p.Val179=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 751740	NM_001003787.4(STRADA):c.513G>A (p.Ala171=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 663220	NM_001003787.4(STRADA):c.580A>C (p.Arg194=)	LOC125312417, STRADA	Single nucleotide variant (synonymous variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 658171	NM_001003787.4(STRADA):c.464C>T (p.Ala155Val)	LOC125312417, STRADA (A97V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 591928	NM_001003787.4(STRADA):c.31dup (p.Ile11fs)	STRADA (I11fs)	Duplication (frameshift variant +3 more)	not provided	GUncertain significance
Select item 591886	NM_001003787.4(STRADA):c.1100+54_1100+55delinsTA	STRADA (G348V)	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 570147	NM_001003787.4(STRADA):c.581+5G>A	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 569294	NM_001003787.4(STRADA):c.550G>A (p.Asp184Asn)	LOC125312417, STRADA (D184N +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 536762	NM_001003787.4(STRADA):c.482C>T (p.Thr161Ile)	LOC125312417, STRADA (T161I +5 more)	Single nucleotide variant (missense variant +1 more)	STRADA-related disorder +1 more	GLikely benign
Select item 536754	NM_001003787.4(STRADA):c.535G>T (p.Val179Leu)	STRADA, LOC125312417 (V179L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 468885	NM_001003787.4(STRADA):c.581+4C>T	LOC125312417, STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 468884	NM_001003787.4(STRADA):c.508C>G (p.Leu170Val)	LOC125312417, STRADA (L170V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +2 more	GBenign

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Items: 38