ClinVar for MedGen (Select 6452) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429311	NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del	HGSNAT	Deletion	Sanfilippo syndrome	GLikely pathogenic
Select item 1155309	NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)	GNS (D385E)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GLikely benign
Select item 1066296	NM_002076.4(GNS):c.625-2A>G	GNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 1051179	NM_002076.4(GNS):c.698C>T (p.Ala233Val)	GNS (A233V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1039139	NM_002076.4(GNS):c.676T>G (p.Phe226Val)	GNS (F226V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1018787	NM_002076.4(GNS):c.160A>G (p.Thr54Ala)	GNS (T54A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1008594	NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)	GNS (G383S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1002543	NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)	GNS (G540S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 997870	NM_152419.3(HGSNAT):c.1378-1G>A	HGSNAT	Single nucleotide variant (splice acceptor variant)	Sanfilippo syndrome	GPathogenic
Select item 990671	NM_002076.4(GNS):c.462C>T (p.Tyr154=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 990670	NM_002076.4(GNS):c.850T>C (p.Phe284Leu)	GNS (F284L)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 990669	NM_002076.4(GNS):c.1309-9T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 990668	NM_002076.4(GNS):c.*3dup	GNS	Duplication (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 966660	NM_002076.4(GNS):c.876-3C>T	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 943917	NM_002076.4(GNS):c.117G>T (p.Gly39=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 918132	NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	HGSNAT (I361fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic
Select item 883408	NM_002076.4(GNS):c.5G>C (p.Arg2Pro)	GNS (R2P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GUncertain significance
Select item 850328	NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)	GNS (Y323C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 842217	NM_002076.4(GNS):c.1308+2T>C	GNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 836831	NM_002076.4(GNS):c.791C>T (p.Thr264Met)	GNS (T264M)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 784604	NM_002076.4(GNS):c.1026G>A (p.Gln342=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GBenign/Likely benign
Select item 779667	NM_002076.4(GNS):c.1113C>T (p.Asn371=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GBenign
Select item 763611	NM_002076.4(GNS):c.1452C>T (p.Asp484=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 758856	NM_002076.4(GNS):c.1578C>T (p.Pro526=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 751712	NM_002076.4(GNS):c.132C>G (p.Thr44=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 750732	NM_002076.4(GNS):c.30G>A (p.Arg10=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 732148	NM_002076.4(GNS):c.468C>T (p.Ala156=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 726825	NM_002076.4(GNS):c.793-9A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 724833	NM_002076.4(GNS):c.577C>T (p.Arg193Trp)	GNS (R193W)	Single nucleotide variant (missense variant)	GNS-related condition +1 more	GConflicting classifications of pathogenicity
Select item 645181	NM_002076.4(GNS):c.682A>G (p.Met228Val)	GNS (M228V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 579944	NM_002076.4(GNS):c.688G>A (p.Ala230Thr)	GNS (A230T)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 569138	NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)	HGSNAT (R203*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic
Select item 569073	NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)	HGSNAT (S541L +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 558400	NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)	HGSNAT (G424S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 553494	NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)	HGSNAT (W316* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic/Likely pathogenic
Select item 552134	NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)	HGSNAT (R506* +3 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-C +3 more	GPathogenic
Select item 549921	NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)	HGSNAT (R384* +2 more)	Single nucleotide variant (nonsense)	Sanfilippo syndrome +3 more	GPathogenic
Select item 517671	NM_002076.4(GNS):c.253-10del	GNS	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 495784	NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	NAGLU (R533*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +4 more	GPathogenic/Likely pathogenic
Select item 432779	NM_002076.4(GNS):c.1262G>A (p.Arg421His)	GNS (R421H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GUncertain significance
Select item 426971	NM_152419.3(HGSNAT):c.739del (p.Arg247fs)	HGSNAT (R247fs)	Deletion (frameshift variant +1 more)	Sanfilippo syndrome +3 more	GPathogenic
Select item 424251	NM_002076.4(GNS):c.77T>C (p.Leu26Pro)	GNS (L26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 422050	NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)	HGSNAT (G423W +2 more)	Single nucleotide variant (missense variant)	Sanfilippo syndrome +4 more	GConflicting classifications of pathogenicity
Select item 370732	NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	SGSH (R233*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 363187	NM_152419.3(HGSNAT):c.*3044dup	HGSNAT	Duplication (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 363161	NM_152419.3(HGSNAT):c.1100_1103del	HGSNAT	Deletion (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 363147	NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)	HGSNAT (P413S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +4 more	GConflicting classifications of pathogenicity
Select item 363135	NM_152419.2(HGSNAT):c.-37C>T	HGSNAT, LOC130000316	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 325849	NM_000199.4(SGSH):c.-23C>T	LOC130061900, SGSH	Single nucleotide variant	Sanfilippo syndrome +1 more	GUncertain significance
Select item 325847	NM_000199.5(SGSH):c.89-18_89-15del	SGSH	Deletion (intron variant)	Sanfilippo syndrome +1 more	GConflicting classifications of pathogenicity
Select item 325828	NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)	SGSH (R443Q)	Single nucleotide variant (missense variant +2 more)	Sanfilippo syndrome +2 more	GConflicting classifications of pathogenicity
Select item 323307	NM_000263.4(NAGLU):c.*198del	NAGLU	Deletion (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 323292	NM_000263.3(NAGLU):c.-78C>G	LOC130060903, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323291	NM_000263.3(NAGLU):c.-81C>T	LOC130060903, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323290	NM_000263.3(NAGLU):c.-82T>C	LOC130060903, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323289	NM_000263.3(NAGLU):c.-138A>G	NAGLU	Single nucleotide variant	Sanfilippo syndrome +1 more	GBenign/Likely benign
Select item 323288	NM_000263.3(NAGLU):c.-144G>A	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323287	NM_000263.3(NAGLU):c.-167G>T	NAGLU	Single nucleotide variant	Sanfilippo syndrome +1 more	GConflicting classifications of pathogenicity
Select item 323286	NM_000263.3(NAGLU):c.-200G>C	NAGLU	Single nucleotide variant	Sanfilippo syndrome +1 more	GLikely benign
Select item 323285	NM_000263.3(NAGLU):c.-212G>C	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323284	NM_000263.3(NAGLU):c.-228C>G	NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323283	NM_000263.3(NAGLU):c.-271A>G	LOC130060902, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 323282	NM_000263.3(NAGLU):c.-275T>C	LOC130060902, NAGLU	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 310216	NM_002076.3(GNS):c.-168dupC	GNS	Duplication	Sanfilippo syndrome	GUncertain significance
Select item 310215	NM_002076.3(GNS):c.-161T>C	GNS	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 310213	NM_002076.4(GNS):c.-39TCCCG[4]	GNS	Microsatellite (5 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 310211	NM_002076.4(GNS):c.285A>G (p.Arg95=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GConflicting classifications of pathogenicity
Select item 310208	NM_002076.4(GNS):c.624+10A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GConflicting classifications of pathogenicity
Select item 310205	NM_002076.4(GNS):c.1650T>C (p.His550=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D +2 more	GBenign
Select item 310201	NM_002076.4(GNS):c.*319C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 310178	NM_002076.4(GNS):c.*1861del	GNS	Deletion (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 310172	NM_002076.4(GNS):c.*2611dup	GNS	Duplication (3 prime UTR variant)	Sanfilippo syndrome	GLikely benign
Select item 310165	NM_002076.4(GNS):c.*2787del	GNS	Deletion (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 310163	NM_002076.4(GNS):c.3068_3069dup	GNS	Duplication (3 prime UTR variant)	Sanfilippo syndrome	GLikely benign
Select item 283363	NM_002076.4(GNS):c.21C>G (p.Ala7=)	GNS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 280988	NM_000199.5(SGSH):c.1135del (p.Val379fs)	SGSH (V379fs)	Deletion (frameshift variant +2 more)	Sanfilippo syndrome +2 more	GPathogenic
Select item 265483	NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	HGSNAT (E471K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 258550	NM_002076.4(GNS):c.1598G>A (p.Arg533His)	GNS (R533H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 198694	NM_000199.5(SGSH):c.1027dup (p.Leu343fs)	SGSH (L343fs)	Duplication (frameshift variant +2 more)	Sanfilippo syndrome +3 more	GPathogenic/Likely pathogenic
Select item 193221	NM_002076.4(GNS):c.4C>T (p.Arg2Trp)	GNS (R2W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 96500	NM_152419.3(HGSNAT):c.1250+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 73 +4 more	GPathogenic/Likely pathogenic
Select item 94030	NM_002076.4(GNS):c.363G>A (p.Lys121=)	GNS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 94029	NM_002076.4(GNS):c.198G>A (p.Pro66=)	GNS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 30832	NM_152419.3(HGSNAT):c.234+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-C +4 more	GPathogenic
Select item 30795	NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	NAGLU (R565Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +3 more	GPathogenic
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 5111	NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	SGSH, SLC26A11 (S66W)	Single nucleotide variant (missense variant +1 more)	SGSH-related condition +4 more	GPathogenic
Select item 5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14, SGSH (R245H)	Single nucleotide variant (missense variant +1 more)	SGSH-related condition +4 more	GPathogenic
Select item 1237	NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	HGSNAT (R344C +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +4 more	GConflicting classifications of pathogenicity
Select item 1236	NM_152419.3(HGSNAT):c.372-2A>G	HGSNAT	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 73 +2 more	GPathogenic
Select item 1234	NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	HGSNAT (M482K +2 more)	Single nucleotide variant (missense variant)	Sanfilippo syndrome +2 more	GLikely pathogenic
Select item 1232	NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	HGSNAT (P283L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +4 more	GPathogenic/Likely pathogenic
Select item 1230	NM_152419.3(HGSNAT):c.493+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Sanfilippo syndrome +3 more	GPathogenic

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Items: 93