C0026705[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2109570	NM_000202.8(IDS):c.1649C>A (p.Pro550His)	IDS (P550H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1117816	NM_000202.8(IDS):c.1642T>C (p.Leu548=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2917445	NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)	IDS (L454I +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2127156	NM_000202.8(IDS):c.1629T>C (p.Asp543=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2127590	NM_000202.8(IDS):c.1626A>C (p.Gly542=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1126959	NM_000202.8(IDS):c.1623T>G (p.Gly541=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2883073	NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)	IDS (G451C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1613378	NM_000202.8(IDS):c.1617C>T (p.Ser539=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2047467	NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)	IDS (N447S +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1089630	NM_000202.8(IDS):c.1608T>C (p.Tyr536=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II +1 more	GLikely benign
Select item 285082	NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)	IDS (Q531* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1455705	NM_000202.8(IDS):c.1589dup (p.Leu530fs)	IDS (L530fs +1 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2185267	NM_000202.8(IDS):c.1588T>C (p.Leu530=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2722666	NM_000202.8(IDS):c.1587A>G (p.Pro529=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1107067	NM_000202.8(IDS):c.1584C>T (p.Asp528=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1668370	NM_000202.8(IDS):c.1564C>T (p.Leu522=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1432854	NM_000202.8(IDS):c.1561dup (p.Glu521fs)	IDS (E521fs +1 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1070515	NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)	IDS (E431K +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1125597	NM_000202.8(IDS):c.1560G>A (p.Gly520=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2036565	NM_000202.8(IDS):c.1548C>T (p.Asp516=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 2046763	NM_000202.8(IDS):c.1539C>T (p.Asn513=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1135525	NM_000202.8(IDS):c.1536T>C (p.Ala512=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1102001	NM_000202.8(IDS):c.1536T>A (p.Ala512=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2693430	NM_000202.8(IDS):c.1531C>T (p.Leu511=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 92616	NM_000202.8(IDS):c.1508T>A (p.Val503Asp)	IDS (V503D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1992963	NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)	IDS (W412* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2014357	NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)	IDS (W502R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2832161	NM_000202.8(IDS):c.1503G>C (p.Val501=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2731149	NM_000202.8(IDS):c.1500T>A (p.Thr500=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 711432	NM_000202.8(IDS):c.1500T>C (p.Thr500=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 733589	NM_000202.8(IDS):c.1499C>T (p.Thr500Ile)	IDS (T410I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2845955	NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)	IDS (T410A +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 772689	NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys)	IDS (Y407C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 1436235	NM_000202.8(IDS):c.1483A>G (p.Ile495Val)	IDS (I405V +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1144027	NM_000202.8(IDS):c.1482C>T (p.Thr494=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2156147	NM_000202.8(IDS):c.1479C>T (p.Arg493=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 968479	NM_000202.8(IDS):c.1478G>A (p.Arg493His)	IDS (R493H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1404345	NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)	IDS (R403C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 2087273	NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)	IDS (S491Y +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2737379	NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)	IDS (Y400* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 242796	NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)	IDS (G489A +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 834637	NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)	IDS (I485fs +1 more)	Microsatellite (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2089117	NM_000202.8(IDS):c.1452T>C (p.Asp484=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1377944	NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)	IDS (K393E +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2737380	NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)	IDS (L482* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 2707037	NM_000202.8(IDS):c.1443T>C (p.Ser481=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2117841	NM_000202.8(IDS):c.1440G>A (p.Pro480=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1509031	NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)	IDS (P480L +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 2831312	NM_000202.8(IDS):c.1434C>T (p.Asp478=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 10495	NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)	IDS (W475* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1142671	NM_000202.8(IDS):c.1422G>A (p.Gln474=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 988763	NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)	IDS (P383L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1186178	NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)	IDS (P383S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1131055	NM_000202.8(IDS):c.1416C>T (p.Ile472=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2743261	NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)	IDS (D381N +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 10498	NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	IDS (R468Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1070516	NM_000202.8(IDS):c.1402del (p.Arg468fs)	IDS (R378fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 10497	NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	IDS (R468W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1138143	NM_000202.8(IDS):c.1395G>A (p.Gln465=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 221202	NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)	IDS (Q465* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 2173761	NM_000202.8(IDS):c.1389T>C (p.Tyr463=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1771447	NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)	IDS (Y463C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2026925	NM_000202.8(IDS):c.1380G>A (p.Leu460=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2882509	NM_000202.8(IDS):c.1378C>T (p.Leu460=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2148543	NM_000202.8(IDS):c.1373G>A (p.Arg458His)	IDS (R458H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GUncertain significance
Select item 747479	NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)	IDS (R458C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II +1 more	GConflicting classifications of pathogenicity
Select item 2881387	NM_000202.8(IDS):c.1371C>G (p.Pro457=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2110886	NM_000202.8(IDS):c.1364G>T (p.Gly455Val)	IDS (G365V +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1117303	NM_000202.8(IDS):c.1353G>C (p.Pro451=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1106728	NM_000202.8(IDS):c.1353G>A (p.Pro451=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2154158	NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)	IDS (P361R +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1485811	NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)	IDS (D360E +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1577189	NM_000202.8(IDS):c.1347G>A (p.Glu449=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 2916826	NM_000202.8(IDS):c.1338C>T (p.Asp446=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2732511	NM_000202.8(IDS):c.1335T>C (p.Arg445=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2140647	NM_000202.8(IDS):c.1334G>A (p.Arg445His)	IDS (R355H +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2165769	NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)	IDS (R445C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2140184	NM_000202.8(IDS):c.1327C>A (p.Arg443=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 2092949	NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)	IDS (R353G +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 10486	NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	IDS (R443* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 2829752	NM_000202.8(IDS):c.1317G>T (p.Leu439=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2416338	NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)	IDS (G345C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1026222	NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)	IDS (R343G +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2809961	NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)	IDS (C432F +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 766100	NM_000202.8(IDS):c.1293G>A (p.Leu431=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 1167705	NM_000202.8(IDS):c.1290G>A (p.Glu430=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GBenign
Select item 737805	NM_000202.8(IDS):c.1284C>T (p.His428=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2778817	NM_000202.8(IDS):c.1275T>A (p.Pro425=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 967476	NM_000202.8(IDS):c.1270G>A (p.Val424Ile)	IDS (V424I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 590249	NM_000202.8(IDS):c.1269C>T (p.Pro423=)	IDS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 284860	NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)	IDS (C422Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1398903	NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)	IDS (R421C +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1091874	NM_000202.8(IDS):c.1257A>G (p.Pro419=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2797176	NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)	IDS (P329T +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 1582464	NM_000202.8(IDS):c.1254T>G (p.Val418=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 2819187	NM_000202.8(IDS):c.1253T>C (p.Val418Ala)	IDS (V328A +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 3007329	NM_000202.8(IDS):c.1248G>T (p.Leu416=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 753595	NM_000202.8(IDS):c.1248G>A (p.Leu416=)	IDS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-II	GLikely benign
Select item 198996	NM_000202.8(IDS):c.1227G>A (p.Thr409=)	IDS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2898095	NM_000202.8(IDS):c.1226C>T (p.Thr409Met)	IDS (T319M +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely benign

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