ClinVar for Gene (Select 64220) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372303	NM_022369.4(STRA6):c.928-11G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3323405	NM_022369.4(STRA6):c.151C>G (p.Leu51Val)	STRA6 (L66V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323404	NM_022369.4(STRA6):c.602A>G (p.Tyr201Cys)	STRA6 (Y192C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323403	NM_022369.4(STRA6):c.1496A>C (p.Asp499Ala)	STRA6 (D536A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3323401	NM_022369.4(STRA6):c.244C>T (p.Arg82Cys)	STRA6 (R82C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3171568	NM_022369.4(STRA6):c.966C>G (p.Ile322Met)	STRA6 (I359M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171567	NM_022369.4(STRA6):c.712G>A (p.Gly238Ser)	STRA6 (G277S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171566	NM_022369.4(STRA6):c.358G>A (p.Asp120Asn)	STRA6 (D111N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 3171561	NM_022369.4(STRA6):c.1208T>G (p.Leu403Trp)	STRA6 (L440W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171560	NM_022369.4(STRA6):c.1148G>A (p.Arg383His)	LOC126862177, STRA6 (R398H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171559	NM_022369.4(STRA6):c.1147C>T (p.Arg383Cys)	LOC126862177, STRA6 (R383C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171558	NM_022369.4(STRA6):c.1054G>C (p.Val352Leu)	STRA6 (V343L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3058495	NM_022369.4(STRA6):c.267-4C>T	STRA6	Single nucleotide variant (intron variant)	STRA6-related disorder	GLikely benign
Select item 3054876	NM_022369.4(STRA6):c.648C>T (p.Leu216=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
Select item 3050350	NM_022369.4(STRA6):c.1440C>T (p.Ala480=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
Select item 3035622	NM_022369.4(STRA6):c.354C>T (p.Leu118=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
Select item 3035399	NM_001199040.2(STRA6):c.57G>A (p.Arg19=)	CCDC33, STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
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 3029241	NM_001199040.2(STRA6):c.96+1623C>T	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	STRA6-related disorder	GLikely benign
Select item 3004002	NM_022369.4(STRA6):c.498G>A (p.Thr166=)	STRA6	Single nucleotide variant (synonymous variant +1 more)	Matthew-Wood syndrome	GLikely benign
Select item 2915183	NM_022369.4(STRA6):c.1841-12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 2805726	NM_022369.4(STRA6):c.431-16T>C	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	Matthew-Wood syndrome	GBenign
Select item 2801457	NM_022369.4(STRA6):c.927+11C>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 2645537	NC_000015.10:g.74217353C>A	CCDC33, STRA6	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2645536	NM_022369.4(STRA6):c.147C>T (p.Pro49=)	STRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645535	NM_022369.4(STRA6):c.534G>A (p.Thr178=)	STRA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645534	NM_022369.4(STRA6):c.1135C>T (p.Leu379=)	LOC126862177, STRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2632933	NM_022369.4(STRA6):c.1222C>G (p.Arg408Gly)	STRA6 (R399G +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
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 2607054	NM_022369.4(STRA6):c.1190G>A (p.Arg397Gln)	STRA6 (R412Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598191	NM_022369.4(STRA6):c.138C>G (p.Ser46Arg)	STRA6 (S61R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
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 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 2532023	NM_022369.4(STRA6):c.1337C>G (p.Thr446Ser)	STRA6 (T483S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
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 2466866	NM_022369.4(STRA6):c.256G>A (p.Gly86Ser)	STRA6 (G123S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2408223	NM_022369.4(STRA6):c.141A>G (p.Ile47Met)	STRA6 (I84M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2347034	NM_022369.4(STRA6):c.1157T>C (p.Val386Ala)	LOC126862177, STRA6 (V386A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2267784	NM_022369.4(STRA6):c.583C>A (p.Pro195Thr)	STRA6 (P234T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234628	NM_001199040.2(STRA6):c.35T>A (p.Val12Asp)	CCDC33, STRA6 (V12D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212144	NM_022369.4(STRA6):c.221G>A (p.Arg74His)	STRA6 (R89H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155002	NM_022369.4(STRA6):c.928-17C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 2086115	NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)	STRA6 (A54S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2085485	NM_022369.4(STRA6):c.1035C>T (p.Ser345=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 2051601	NM_022369.4(STRA6):c.794A>T (p.His265Leu)	STRA6 (H280L +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GBenign
Select item 2041584	NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)	STRA6 (S22T +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 1970873	NM_022369.4(STRA6):c.267-1G>T	STRA6	Single nucleotide variant (splice acceptor variant +1 more)	Matthew-Wood syndrome	GPathogenic
Select item 1964231	NM_022369.4(STRA6):c.1167-18C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1804828	NM_022369.4(STRA6):c.1037A>C (p.Glu346Ala)	STRA6 (E337A +4 more)	Single nucleotide variant (missense variant)	not specified	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 1707400	NM_022369.4(STRA6):c.1300+187G>T	STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707377	NM_022369.4(STRA6):c.1091-118G>C	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707199	NM_001199040.2(STRA6):c.96+123C>T	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707189	NM_022369.4(STRA6):c.1521-208del	STRA6	Deletion (intron variant)	not provided	GLikely benign
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
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 1625891	NM_022369.4(STRA6):c.1418+18T>G	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 1596880	NM_022369.4(STRA6):c.1419-11C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 1593242	NM_022369.4(STRA6):c.1300+18G>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 1387638	NM_022369.4(STRA6):c.985del (p.Val329fs)	STRA6 (V344fs +4 more)	Deletion (frameshift variant)	Matthew-Wood syndrome	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
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 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 1328571	NM_022369.4(STRA6):c.1167-2_1167-1del	STRA6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
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 1294251	NM_022369.4(STRA6):c.431-37C>T	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	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 1286417	NM_001142617.2(STRA6):c.-15-934_-15-933del	CCDC33, STRA6	Deletion (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 1286131	NM_001142617.2(STRA6):c.-16+411G>A	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285943	NM_022369.4(STRA6):c.598-181G>A	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282558	NM_022369.4(STRA6):c.1167-300T>G	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279498	NM_001142617.2(STRA6):c.-16+1161G>A	STRA6, CCDC33	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 1271473	NM_022369.4(STRA6):c.-16+108C>A	STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1267208	NM_022369.4(STRA6):c.721-114C>T	STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266415	NM_022369.4(STRA6):c.113+108G>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 1263059	NM_022369.4(STRA6):c.407-129A>G	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 1260403	NM_001142617.2(STRA6):c.-15-751T>G	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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