"GeneDx"[submitter] AND "STRA6"[gene] - ClinVar

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Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317085	NM_022369.4(STRA6):c.*222G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 317089	NM_022369.4(STRA6):c.*127T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 317091	NM_022369.4(STRA6):c.*75C>A	STRA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 40079	NM_022369.4(STRA6):c.1964G>A (p.Arg655His)	STRA6 (R655H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 317096	NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser)	STRA6 (G635S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1243055	NM_022369.4(STRA6):c.1841-132C>T	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174449	NM_022369.4(STRA6):c.1840+88G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265464	NM_022369.4(STRA6):c.1840+50T>C	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 317098	NM_022369.4(STRA6):c.1836C>T (p.Asp612=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 317099	NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr)	STRA6 (A591T +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GBenign/Likely benign
Select item 1239030	NM_022369.4(STRA6):c.1685-24T>C	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198626	NM_022369.4(STRA6):c.1685-93A>C	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197833	NM_022369.4(STRA6):c.1685-113T>A	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506604	NM_022369.4(STRA6):c.1661C>T (p.Pro554Leu)	STRA6 (P545L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497862	NM_022369.4(STRA6):c.1631T>C (p.Leu544Pro)	STRA6 (L535P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334721	NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter)	STRA6 (R523* +4 more)	Single nucleotide variant (nonsense)	Matthew-Wood syndrome +1 more	GPathogenic
Select item 261578	NM_022369.4(STRA6):c.1581G>A (p.Met527Ile)	STRA6 (M527I +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1707189	NM_022369.4(STRA6):c.1521-208del	STRA6	Deletion (intron variant)	not provided	GLikely benign
Select item 1224573	NM_022369.4(STRA6):c.1521-211T>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286136	NM_022369.4(STRA6):c.1521-284A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196484	NM_022369.4(STRA6):c.1520+200G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 464031	NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg)	STRA6 (L464R +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GLikely benign
Select item 194560	NM_022369.4(STRA6):c.1385del (p.Asn462fs)	STRA6 (N501fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1250235	NM_022369.4(STRA6):c.1300+262A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707400	NM_022369.4(STRA6):c.1300+187G>T	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228658	NM_022369.4(STRA6):c.1300+102G>T	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215436	NM_022369.4(STRA6):c.1300+27A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328571	NM_022369.4(STRA6):c.1167-2_1167-1del	STRA6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 261577	NM_022369.4(STRA6):c.1167-10C>G	STRA6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1282558	NM_022369.4(STRA6):c.1167-300T>G	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674954	NM_022369.4(STRA6):c.1166+105C>T	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674953	NM_022369.4(STRA6):c.1166+82C>T	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707377	NM_022369.4(STRA6):c.1091-118G>C	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772409	NM_022369.4(STRA6):c.1026C>T (p.Ile342=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3372303	NM_022369.4(STRA6):c.928-11G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1204355	NM_022369.4(STRA6):c.927+284C>A	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242364	NM_022369.4(STRA6):c.927+184T>C	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278974	NM_022369.4(STRA6):c.927+161C>A	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772765	NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)	STRA6 (T292I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1236762	NM_022369.4(STRA6):c.865+93A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193503	NM_022369.4(STRA6):c.721-42G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267208	NM_022369.4(STRA6):c.721-114C>T	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261140	NM_022369.4(STRA6):c.720+59C>T	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452785	NM_022369.4(STRA6):c.653T>C (p.Phe218Ser)	STRA6 (F218S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306157	NM_022369.4(STRA6):c.649G>A (p.Gly217Arg)	STRA6 (G208R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285943	NM_022369.4(STRA6):c.598-181G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205296	NM_022369.4(STRA6):c.598-199A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674010	NM_022369.4(STRA6):c.598-256CTC[2]	STRA6	Microsatellite (intron variant)	not provided	GBenign
Select item 418507	NM_022369.4(STRA6):c.582_583insTTGGCAGAGGGCAGAGTGT (p.Pro195fs)	STRA6 (P186fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1140	NM_022369.4(STRA6):c.527dup (p.Ser177fs)	STRA6 (S177fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1294251	NM_022369.4(STRA6):c.431-37C>T	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183162	NM_022369.4(STRA6):c.430+24T>A	STRA6 (L152M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1263059	NM_022369.4(STRA6):c.407-129A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290883	NM_022369.4(STRA6):c.406+111A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288646	NM_022369.4(STRA6):c.406+97A>G	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 317113	NM_022369.4(STRA6):c.406+5C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome +1 more	GLikely benign
Select item 464034	NM_022369.4(STRA6):c.367G>C (p.Ala123Pro)	STRA6 (A123P +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 451461	NM_022369.4(STRA6):c.344_345del (p.Cys115fs)	STRA6 (C130fs +4 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 317117	NM_022369.4(STRA6):c.331C>T (p.Leu111=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 1244306	NM_022369.4(STRA6):c.266+266G>A	LOC132090331, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239965	NM_022369.4(STRA6):c.181-119T>C	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 464032	NM_022369.4(STRA6):c.173C>T (p.Ser58Leu)	STRA6 (S58L +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 1266415	NM_022369.4(STRA6):c.113+108G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186811	NM_022369.4(STRA6):c.-15-29C>T	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243567	NM_022369.4(STRA6):c.-15-62del	STRA6	Deletion (intron variant)	not provided	GBenign
Select item 1218030	NM_022369.4(STRA6):c.-16+157_-16+158insGACGA	STRA6	Insertion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1271473	NM_022369.4(STRA6):c.-16+108C>A	STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260403	NM_001142617.2(STRA6):c.-15-751T>G	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1286417	NM_001142617.2(STRA6):c.-15-934_-15-933del	STRA6, CCDC33	Deletion (intron variant)	not provided	GBenign
Select item 1225093	NM_001142617.2(STRA6):c.-16+1185C>G	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279498	NM_001142617.2(STRA6):c.-16+1161G>A	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248987	NM_001142617.2(STRA6):c.-16+1088G>A	CCDC33, STRA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1204061	NM_001142617.2(STRA6):c.-16+1061C>G	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 675105	NM_022369.3(STRA6):c.-5067C>T	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 675104	NM_022369.3(STRA6):c.-5200G>A	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248750	NM_001142617.2(STRA6):c.-16+794G>C	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1286131	NM_001142617.2(STRA6):c.-16+411G>A	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707199	NM_001199040.2(STRA6):c.96+123C>T	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 82