STRA6[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 323

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 369100	NM_001142617.1(STRA6):c.*628G>A	STRA6	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 887961	NM_022369.4(STRA6):c.*582T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317079	NM_022369.4(STRA6):c.*569T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 317080	NM_022369.4(STRA6):c.*489T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 317081	NM_022369.4(STRA6):c.*426G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 317082	NM_022369.4(STRA6):c.*399G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317083	NM_022369.4(STRA6):c.*381C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884818	NM_022369.4(STRA6):c.*368G>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317084	NM_022369.4(STRA6):c.*324C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
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 317086	NM_022369.4(STRA6):c.*209G>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Syndromic Microphthalmia, Recessive	GUncertain significance
Select item 884819	NM_022369.4(STRA6):c.*190C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317087	NM_022369.4(STRA6):c.*189G>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317088	NM_022369.4(STRA6):c.*178C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 885751	NM_022369.4(STRA6):c.*141G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
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 885752	NM_022369.4(STRA6):c.*105G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317090	NM_022369.4(STRA6):c.*89T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
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 885753	NM_022369.4(STRA6):c.*72C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317092	NM_022369.4(STRA6):c.*32G>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886754	NM_022369.4(STRA6):c.*10A>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome +1 more	GUncertain significance
Select item 464033	NM_022369.4(STRA6):c.2001C>T (p.Pro667=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 317093	NM_022369.4(STRA6):c.1992T>C (p.Gly664=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317094	NM_022369.4(STRA6):c.1970C>T (p.Thr657Met)	STRA6 (T657M +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
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 1135	NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys)	STRA6 (R655C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555204	NM_022369.4(STRA6):c.1957G>T (p.Val653Phe)	STRA6 (V653F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 317095	NM_022369.4(STRA6):c.1957G>A (p.Val653Ile)	STRA6 (V653I +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GUncertain significance
Select item 959422	NM_022369.4(STRA6):c.1942A>C (p.Asn648His)	STRA6 (N639H +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 497251	NM_022369.4(STRA6):c.1935G>A (p.Leu645=)	STRA6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1136	NM_022369.4(STRA6):c.1931C>T (p.Thr644Met)	STRA6 (T644M +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GPathogenic
Select item 3065238	NM_022369.4(STRA6):c.1922T>A (p.Leu641Gln)	STRA6 (L632Q +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 591313	NM_022369.4(STRA6):c.1917G>A (p.Trp639Ter)	STRA6 (W639* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 221967	NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro)	STRA6 (R638P +4 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2273302	NM_022369.4(STRA6):c.1912C>T (p.Arg638Cys)	STRA6 (R629C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2634038	NM_022369.4(STRA6):c.1900C>T (p.Arg634Cys)	STRA6 (R625C +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
Select item 3171565	NM_022369.4(STRA6):c.1891G>A (p.Gly631Arg)	STRA6 (G646R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2623115	NM_022369.4(STRA6):c.1880G>A (p.Gly627Glu)	STRA6 (G618E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 936557	NM_022369.4(STRA6):c.1871T>C (p.Met624Thr)	STRA6 (M615T +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GUncertain significance
Select item 886755	NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala)	STRA6 (S614A +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 3171564	NM_022369.4(STRA6):c.1848G>C (p.Gln616His)	STRA6 (Q631H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2915183	NM_022369.4(STRA6):c.1841-12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely 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 317097	NM_022369.4(STRA6):c.1840+12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome +1 more	GBenign/Likely benign
Select item 287070	NM_022369.4(STRA6):c.1840+4C>T	STRA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3030948	NM_022369.4(STRA6):c.1839A>T (p.Glu613Asp)	STRA6 (E604D +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
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 2395296	NM_022369.4(STRA6):c.1817T>G (p.Leu606Arg)	STRA6 (L597R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171563	NM_022369.4(STRA6):c.1810G>C (p.Asp604His)	STRA6 (D619H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888026	NM_022369.4(STRA6):c.1803C>T (p.Ala601=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
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 221927	NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala)	STRA6 (P579A +4 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2293498	NM_022369.4(STRA6):c.1714A>T (p.Ile572Phe)	STRA6 (I609F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710342	NM_022369.4(STRA6):c.1699C>T (p.Arg567Ter)	STRA6 (R558* +4 more)	Single nucleotide variant (nonsense)	Microphthalmia	GLikely pathogenic
Select item 1353718	NM_022369.4(STRA6):c.1694C>T (p.Thr565Met)	STRA6 (T565M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 888027	NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala)	STRA6 (T556A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 791404	NM_022369.4(STRA6):c.1692C>T (p.Tyr564=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 317100	NM_022369.4(STRA6):c.1685-5C>G	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome +1 more	GConflicting classifications of pathogenicity
Select item 888028	NM_022369.4(STRA6):c.1685-15G>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign
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 3171562	NM_022369.4(STRA6):c.1678G>A (p.Asp560Asn)	STRA6 (D560N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 40078	NM_022369.4(STRA6):c.1678G>C (p.Asp560His)	STRA6 (D560H +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GPathogenic
Select item 755885	NM_022369.4(STRA6):c.1677C>T (p.Leu559=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 572841	NM_022369.4(STRA6):c.1676dup (p.Asp560fs)	STRA6 (D599fs +4 more)	Duplication (frameshift variant)	Matthew-Wood syndrome	GPathogenic
Select item 888029	NM_022369.4(STRA6):c.1670C>T (p.Ala557Val)	STRA6 (A572V +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 3323400	NM_022369.4(STRA6):c.1669G>T (p.Ala557Ser)	STRA6 (A548S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560137	NM_022369.4(STRA6):c.1669G>A (p.Ala557Thr)	STRA6 (A548T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783111	NM_022369.4(STRA6):c.1668C>T (p.Ala556=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	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 3323402	NM_022369.4(STRA6):c.1624A>T (p.Ile542Phe)	STRA6 (I581F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 596487	NM_022369.4(STRA6):c.1605C>A (p.Leu535=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 194785	NM_022369.4(STRA6):c.1605C>T (p.Leu535=)	STRA6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1679221	NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu)	STRA6 (R523L +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	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 591965	NM_022369.4(STRA6):c.1594C>G (p.Arg532Gly)	STRA6 (R532G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 317101	NM_022369.4(STRA6):c.1566G>T (p.Val522=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GConflicting classifications of pathogenicity
Select item 884899	NM_022369.4(STRA6):c.1565T>G (p.Val522Gly)	STRA6 (V522G +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 88764	NM_022369.4(STRA6):c.1521-1G>A	STRA6	Single nucleotide variant (splice acceptor variant)	Matthew-Wood syndrome	GPathogenic
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

<< First< Prev

Page of 4