"GeneDx"[submitter] AND "SGSH"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1243345	NM_001366385.1(CARD14):c.1852-303TTTCT[5]	CARD14, SGSH	Microsatellite (intron variant)	not provided	GBenign
Select item 1192694	NM_001366385.1(CARD14):c.1852-60T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1227365	NM_001366385.1(CARD14):c.1978+142del	SGSH, CARD14	Deletion (intron variant)	not provided	GBenign
Select item 1192695	NM_001366385.1(CARD14):c.1979-125C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +2 more	GBenign
Select item 1165098	NM_001366385.1(CARD14):c.2219+14T>G	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Pityriasis rubra pilaris +2 more	GBenign
Select item 402482	NM_001366385.1(CARD14):c.2219+14T>A	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1265055	NM_001366385.1(CARD14):c.2219+252T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246359	NM_001366385.1(CARD14):c.2219+258C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267413	NM_001366385.1(CARD14):c.2219+277G>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170315	NM_001366385.1(CARD14):c.2283+11A>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1253284	NM_001366385.1(CARD14):c.2283+121C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192536	NM_001366385.1(CARD14):c.2398+30A>G	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1192537	NM_001366385.1(CARD14):c.2398+42T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1192538	NM_001366385.1(CARD14):c.2398+49G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1182891	NM_001366385.1(CARD14):c.2398+220T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234611	NM_001366385.1(CARD14):c.2398+298del	CARD14, LOC126862662 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1201815	NM_001366385.1(CARD14):c.2399-47G>A	SGSH, CARD14 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422207	NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys)	SGSH, CARD14 +1 more (E808K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 402487	NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)	CARD14, LOC126862662 +1 more (R820W)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +4 more	GConflicting classifications of pathogenicity
Select item 1167400	NM_001366385.1(CARD14):c.2481C>T (p.Pro827=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1216519	NM_001366385.1(CARD14):c.2569+151A>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 458097	NM_001366385.1(CARD14):c.2648G>A (p.Arg883His)	CARD14, LOC126862662 +1 more (R883H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1293838	NM_001366385.1(CARD14):c.2691+115C>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214894	NM_001366385.1(CARD14):c.2691+311C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255138	NM_001366385.1(CARD14):c.2692-182A>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246193	NM_001366385.1(CARD14):c.2692-151A>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202696	NM_001366385.1(CARD14):c.2692-147C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304320	NM_001366385.1(CARD14):c.2726G>A (p.Ser909Asn)	CARD14, SGSH (S909N)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1308169	NM_001366385.1(CARD14):c.2806A>G (p.Lys936Glu)	CARD14, SGSH (K936E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1293767	NM_001366385.1(CARD14):c.2807+123C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258721	NM_001366385.1(CARD14):c.2807+233G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263464	NM_001366385.1(CARD14):c.2807+248T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193872	NM_001366385.1(CARD14):c.2807+293C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221427	NM_001366385.1(CARD14):c.2808-290C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220611	NM_001366385.1(CARD14):c.2808-252A>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170164	NM_001366385.1(CARD14):c.2808-19C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 458100	NM_001366385.1(CARD14):c.2853G>A (p.Glu951=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign
Select item 458102	NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln)	CARD14, SGSH (R962Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1306391	NM_001366385.1(CARD14):c.2962G>A (p.Ala988Thr)	CARD14, SGSH (A988T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1189618	NM_001366385.1(CARD14):c.*46T>C	CARD14, SGSH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1278751	NM_001366385.1(CARD14):c.*231T>G	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262670	NM_001366385.1(CARD14):c.*274G>A	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281456	NM_001366385.1(CARD14):c.*288G>A	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 325823	NM_000199.5(SGSH):c.*201A>T	SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 421394	NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)	SGSH (D477N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GLikely pathogenic
Select item 958221	NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)	SGSH (W473C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 92610	NM_000199.5(SGSH):c.1367G>A (p.Arg456His)	SGSH (R456H)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 5114	NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	SGSH (E447K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 891642	NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)	SGSH (R441Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 650213	NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)	SGSH (Y439C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1419099	NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)	SGSH	Deletion (inframe_indel +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 559102	NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)	SGSH (A434V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 551014	NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	SGSH (R433W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 287037	NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)	SGSH	Deletion (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 1176365	NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser)	SGSH (T415S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 753069	NM_000199.5(SGSH):c.1210G>A (p.Val404Ile)	SGSH (V404I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420956	NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)	SGSH (D399N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 92609	NM_000199.5(SGSH):c.1159G>A (p.Val387Met)	SGSH (V387M)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 92608	NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	SGSH	Insertion (inframe_insertion +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279891	NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)	SGSH (Q380R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 255513	NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)	SGSH (M372I)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 5117	NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	SGSH (E369K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 92607	NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)	SGSH (V361I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GBenign
Select item 518268	NM_000199.5(SGSH):c.1080del (p.Val361fs)	SGSH (V361fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 325835	NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)	SGSH (E355K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 198694	NM_000199.5(SGSH):c.1027dup (p.Leu343fs)	SGSH (L343fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 546107	NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)	SGSH (T321A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1229620	NM_000199.5(SGSH):c.950-93G>A	SGSH (G345R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1215253	NM_000199.5(SGSH):c.950-183A>G	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225821	NM_000199.5(SGSH):c.950-295A>G	SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224043	NM_000199.5(SGSH):c.949+228C>T	SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706677	NM_000199.5(SGSH):c.949+92T>A	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1382831	NM_000199.5(SGSH):c.896C>T (p.Pro299Leu)	SGSH (P299L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +2 more	GPathogenic
Select item 265258	NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	SGSH (P293S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 1494107	NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	SGSH (G275R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303978	NM_000199.5(SGSH):c.773G>A (p.Arg258His)	SGSH (R258H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 1069492	NM_000199.5(SGSH):c.757del (p.Val253fs)	SGSH (V253fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 325837	NM_000199.5(SGSH):c.746-4A>G	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A +1 more	GBenign
Select item 1190133	NM_000199.5(SGSH):c.746-140G>C	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204497	NM_000199.5(SGSH):c.745+79C>T	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14, SGSH (R245H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 554400	NM_000199.5(SGSH):c.726C>T (p.Thr242=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 553004	NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	SGSH (D235N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 290032	NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)	SGSH (A234G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 370732	NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	SGSH (R233*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 383967	NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)	SGSH (F225L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255517	NM_000199.5(SGSH):c.664-36T>C	SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255518	NM_000199.5(SGSH):c.664-39_664-38del	SGSH	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 255519	NM_000199.5(SGSH):c.664-50G>A	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A +2 more	GBenign
Select item 1212153	NM_000199.5(SGSH):c.664-111G>A	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187858	NM_000199.5(SGSH):c.664-127A>G	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213475	NM_000199.5(SGSH):c.663+87A>G	SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92612	NM_000199.5(SGSH):c.663+17T>C	SGSH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 709488	NM_000199.5(SGSH):c.658G>T (p.Val220Leu)	SGSH (V220L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 325841	NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)	SGSH (Q213K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280083	NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	SGSH (W210*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1321020	NM_000199.5(SGSH):c.627C>G (p.Asp209Glu)	SGSH (D209E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 557068	NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)	SGSH (C194*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic

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