benzingia strada - ClinVar - NCBI

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The following term was not found in ClinVar: benzingia.
Showing results for Benzingia estradae. Your search for Benzingia estradae retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 150795	GRCh38/hg38 17q23.3(chr17:63648253-63855879)x3	CCDC47, DDX42 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2186	NC_000017.11:g.63702091_63709394del	LOC130061404, LOC729683 +1 more	Deletion	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 1571290	NM_001003787.4(STRADA):c.1284T>C (p.Asp428=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
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 1151388	NM_001003787.4(STRADA):c.1281C>T (p.Asp427=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
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 1576948	NM_001003787.4(STRADA):c.1275G>A (p.Glu425=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 956258	NM_001003787.4(STRADA):c.1273G>C (p.Glu425Gln)	STRADA (E367Q +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1375910	NM_001003787.4(STRADA):c.1270C>G (p.Leu424Val)	STRADA (L366V +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 942197	NM_001003787.4(STRADA):c.1264G>A (p.Glu422Lys)	STRADA (E414K +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1392519	NM_001003787.4(STRADA):c.1255A>G (p.Thr419Ala)	STRADA (T361A +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
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 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 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 958965	NM_001003787.4(STRADA):c.1237G>A (p.Gly413Arg)	STRADA (G405R +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 847533	NM_001003787.4(STRADA):c.1223C>A (p.Ser408Tyr)	STRADA (S350Y +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1042091	NM_001003787.4(STRADA):c.1212G>A (p.Glu404=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 766980	NM_001003787.4(STRADA):c.1206T>C (p.Asn402=)	STRADA (F300L)	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1338027	NM_001003787.4(STRADA):c.1205A>G (p.Asn402Ser)	STRADA (N344S +4 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +2 more	GUncertain significance
Select item 946592	NM_001003787.4(STRADA):c.1195C>T (p.Pro399Ser)	STRADA (P362S +5 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1002910	NM_001003787.4(STRADA):c.1193C>T (p.Thr398Ile)	STRADA (T340I +4 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 536755	NM_001003787.4(STRADA):c.1184G>A (p.Arg395His)	STRADA (R395H +4 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more	GUncertain significance
Select item 1020519	NM_001003787.4(STRADA):c.1183C>T (p.Arg395Cys)	STRADA (R337C +5 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1010891	NM_001003787.4(STRADA):c.1174G>A (p.Glu392Lys)	STRADA (E334K +5 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
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 536753	NM_001003787.4(STRADA):c.1154G>A (p.Arg385His)	STRADA (R385H +4 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1055025	NM_001003787.4(STRADA):c.1153C>T (p.Arg385Cys)	STRADA (R327C +5 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1036468	NM_001003787.4(STRADA):c.1151G>A (p.Arg384Gln)	STRADA (R384Q +4 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 2501328	NM_001003787.4(STRADA):c.1150C>T (p.Arg384Ter)	STRADA (A281V +5 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 1038348	NM_001003787.4(STRADA):c.1144del (p.Ile382fs)	STRADA (I345fs +5 more)	Deletion (frameshift variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 572622	NM_001003787.4(STRADA):c.1144-1G>A	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1973138	NM_001003787.4(STRADA):c.1144-4C>G	STRADA	Single nucleotide variant (intron variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 707117	NM_001003787.4(STRADA):c.1144-7C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 744007	NM_001003787.4(STRADA):c.1144-9C>A	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1665060	NM_001003787.4(STRADA):c.1144-19C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 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 1663087	NM_001003787.4(STRADA):c.1143+17G>A	STRADA	Single nucleotide variant (3 prime UTR variant +1 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 1592990	NM_001003787.4(STRADA):c.1143+16C>G	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1955358	NM_001003787.4(STRADA):c.1143+12C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1365876	NM_001003787.4(STRADA):c.1143+6G>A	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1431770	NM_001003787.4(STRADA):c.1143+5C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 949157	NM_001003787.4(STRADA):c.1141C>T (p.Gln381Ter)	STRADA (Q344* +4 more)	Single nucleotide variant (nonsense +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1645628	NM_001003787.4(STRADA):c.1125C>T (p.Asn375=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 3323406	NM_001003787.4(STRADA):c.1117C>T (p.Leu373Phe)	STRADA (L336F +4 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 1303462	NM_001003787.4(STRADA):c.1107T>G (p.Ser369Arg)	STRADA (S311R +9 more)	Single nucleotide variant (missense variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more	GUncertain significance
Select item 1108810	NM_001003787.4(STRADA):c.1104C>G (p.Pro368=)	STRADA (P280R +4 more)	Single nucleotide variant (synonymous variant +4 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 844584	NM_001003787.4(STRADA):c.1101G>A (p.Arg367=)	STRADA (G279D +4 more)	Single nucleotide variant (synonymous variant +4 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 800960	NM_001003787.4(STRADA):c.1101-1G>C	STRADA	Single nucleotide variant (3 prime UTR variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely pathogenic
Select item 1671748	NM_001003787.4(STRADA):c.1101-5T>C	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1441360	NM_001003787.4(STRADA):c.1101-7_1101-6insAA	STRADA	Insertion (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1352786	NM_001003787.4(STRADA):c.1101-7C>G	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	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 1613032	NM_001003787.4(STRADA):c.1101-11T>G	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1616848	NM_001003787.4(STRADA):c.1101-16_1101-14del	STRADA	Microsatellite (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 1602212	NM_001003787.4(STRADA):c.1101-23TC[2]	STRADA	Microsatellite (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1592782	NM_001003787.4(STRADA):c.1101-18C>T	STRADA	Single nucleotide variant (3 prime UTR variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
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 3025723	NM_001003787.4(STRADA):c.1100+29C>T	STRADA (R340W)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1598086	NM_001003787.4(STRADA):c.1100+20C>T	STRADA (P337S)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 742195	NM_001003787.4(STRADA):c.1092G>A (p.Pro364=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
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 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 939258	NM_001003787.4(STRADA):c.1091C>G (p.Pro364Arg)	STRADA (P335R +4 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 970563	NM_001003787.4(STRADA):c.1085G>A (p.Arg362His)	STRADA (R354H +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 957919	NM_001003787.4(STRADA):c.1068G>A (p.Val356=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1001751	NM_001003787.4(STRADA):c.1067T>C (p.Val356Ala)	STRADA (V298A +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 949165	NM_001003787.4(STRADA):c.1063T>C (p.Phe355Leu)	STRADA (F297L +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1493729	NM_001003787.4(STRADA):c.1053dup (p.Phe352fs)	STRADA (F323fs +4 more)	Duplication (frameshift variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1011736	NM_001003787.4(STRADA):c.1053C>G (p.His351Gln)	STRADA (H293Q +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1402661	NM_001003787.4(STRADA):c.1051C>A (p.His351Asn)	STRADA (H314N +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more	GUncertain significance
Select item 937062	NM_001003787.4(STRADA):c.1051C>T (p.His351Tyr)	STRADA (H293Y +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 569588	NM_001003787.4(STRADA):c.1051C>G (p.His351Asp)	STRADA (H351D +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 436886	NM_001003787.4(STRADA):c.1050C>G (p.Pro350=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 1405979	NM_001003787.4(STRADA):c.1049C>A (p.Pro350His)	STRADA (P292H +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1897231	NM_001003787.4(STRADA):c.1048C>T (p.Pro350Ser)	STRADA (P292S +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 1488928	NM_001003787.4(STRADA):c.1037G>A (p.Arg346Gln)	STRADA (R288Q +4 more)	Single nucleotide variant (intron variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 536756	NM_001003787.4(STRADA):c.1036C>T (p.Arg346Ter)	STRADA (R346* +4 more)	Single nucleotide variant (nonsense +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GPathogenic
Select item 1645055	NM_001003787.4(STRADA):c.1032C>T (p.Tyr344=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GLikely benign
Select item 1060715	NM_001003787.4(STRADA):c.1024C>T (p.His342Tyr)	STRADA (H284Y +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1025876	NM_001003787.4(STRADA):c.1023_1024del (p.His342fs)	STRADA (H284fs +4 more)	Deletion (frameshift variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 1473997	NM_001003787.4(STRADA):c.1016C>T (p.Ser339Leu)	STRADA (S310L +4 more)	Single nucleotide variant (missense variant +2 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 972368	NM_001003787.4(STRADA):c.1009G>A (p.Gly337Ser)	STRADA (G279S +6 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
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 1495530	NM_001003787.4(STRADA):c.1001C>T (p.Pro334Leu)	STRADA (P297L +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 575275	NM_001003787.4(STRADA):c.998G>A (p.Arg333Gln)	STRADA (R333Q +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 640222	NM_001003787.4(STRADA):c.997C>T (p.Arg333Trp)	STRADA (R275W +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 573381	NM_001003787.4(STRADA):c.992C>A (p.Thr331Asn)	STRADA (T331N +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GConflicting classifications of pathogenicity
Select item 536758	NM_001003787.4(STRADA):c.992C>T (p.Thr331Ile)	STRADA (T331I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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

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