ClinVar for MedGen (Select 39477) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245541	NC_000008.10:g.(?_43033197)_(43033397_?)dup	HGSNAT	Duplication	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely pathogenic
Select item 3245540	NC_000008.10:g.(?_43025708)_(43028906_?)del	HGSNAT	Deletion	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 3245539	NC_000008.10:g.(?_43013698)_(43014207_?)del	HGSNAT	Deletion	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 3245538	NC_000008.10:g.(?_43052071)_(43054712_?)del	HGSNAT	Deletion	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 3245536	NC_000008.10:g.(?_43027433)_(43027549_?)del	HGSNAT	Deletion	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2954442	NM_152419.3(HGSNAT):c.821-5del	HGSNAT	Deletion (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2953989	NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)	HGSNAT (Y468fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2953973	NM_152419.3(HGSNAT):c.1250+10C>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2953651	NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2953584	NM_152419.3(HGSNAT):c.372-4G>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2953435	NM_152419.3(HGSNAT):c.821-20G>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2953421	NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2953408	NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2953305	NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2953271	NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2953254	NM_152419.3(HGSNAT):c.852-2A>G	HGSNAT	Single nucleotide variant (splice acceptor variant +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2952875	NM_152419.3(HGSNAT):c.1727-5T>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952710	NM_152419.3(HGSNAT):c.1377+11C>G	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952709	NM_152419.3(HGSNAT):c.1614-6T>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952464	NM_152419.3(HGSNAT):c.371+5G>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 2952456	NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952377	NM_152419.3(HGSNAT):c.820+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 73 +1 more	GLikely pathogenic
Select item 2952317	NM_152419.3(HGSNAT):c.1726+15A>C	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952212	NM_152419.3(HGSNAT):c.372-12T>C	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952130	NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2952104	NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)	HGSNAT (W265fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2952040	NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)	HGSNAT (Y165C +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 2951665	NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)	HGSNAT (L186*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2950946	NM_152419.3(HGSNAT):c.1727-4dup	HGSNAT	Duplication (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2950889	NM_152419.3(HGSNAT):c.1726+18T>G	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2950854	NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2949873	NM_152419.3(HGSNAT):c.1129-7dup	HGSNAT	Duplication (intron variant)	Retinitis pigmentosa 73 +1 more	GBenign
Select item 2949773	NM_152419.3(HGSNAT):c.1013-15_1013-14del	HGSNAT	Deletion (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2949741	NM_152419.3(HGSNAT):c.235-16G>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2949651	NM_152419.3(HGSNAT):c.118+18A>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2949619	NM_152419.3(HGSNAT):c.1128+16T>C	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2949581	NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2949524	NM_152419.3(HGSNAT):c.493+1G>C	HGSNAT	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2949514	NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2949352	NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)	HGSNAT (D321fs +2 more)	Insertion (frameshift variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2949191	NM_152419.3(HGSNAT):c.771C>T (p.Val257=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2949189	NM_152419.3(HGSNAT):c.1614-18C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2948991	NM_152419.3(HGSNAT):c.1251-8C>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2948880	NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)	HGSNAT (K43*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2948616	NM_152419.3(HGSNAT):c.852-16A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2948426	NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2948410	NM_152419.3(HGSNAT):c.372-13C>T	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2948381	NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)	HGSNAT (A169fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic/Likely pathogenic
Select item 2947929	NM_152419.3(HGSNAT):c.744-6T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947719	NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947718	NM_152419.3(HGSNAT):c.743+13C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947586	NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947486	NM_152419.3(HGSNAT):c.371+16G>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947419	NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947325	NM_152419.3(HGSNAT):c.234+20C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947271	NM_152419.3(HGSNAT):c.1250+18G>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2947228	NM_152419.3(HGSNAT):c.852-8C>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2946561	NM_152419.3(HGSNAT):c.1128+14T>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2946558	NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)	HGSNAT	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2946228	NM_152419.3(HGSNAT):c.118+7G>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2946125	NM_152419.3(HGSNAT):c.451del (p.Cys151fs)	HGSNAT (C151fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2945293	NM_152419.3(HGSNAT):c.118+13C>A	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2945083	NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2944972	NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2944721	NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)	HGSNAT, LOC130000316 (P25fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2944424	NM_152419.3(HGSNAT):c.1128+11A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2944113	NM_152419.3(HGSNAT):c.1465-15T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2943962	NM_152419.3(HGSNAT):c.1543-5T>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2943666	NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2943340	NM_152419.3(HGSNAT):c.1129-9C>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2942731	NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)	HGSNAT, LOC130000316 (S29*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 2942264	NM_152419.3(HGSNAT):c.371+11G>C	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2942102	NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2941938	NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2941835	NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2941513	NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2941399	NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2941243	NM_152419.3(HGSNAT):c.372-9T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2940757	NM_152419.3(HGSNAT):c.633+17A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2940479	NM_152419.3(HGSNAT):c.744-18T>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2940264	NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2940168	NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2940052	NM_152419.3(HGSNAT):c.118+12C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939963	NM_152419.3(HGSNAT):c.851+11G>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939793	NM_152419.3(HGSNAT):c.1377+15A>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939487	NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939441	NM_152419.3(HGSNAT):c.234+20C>T	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939434	NM_152419.3(HGSNAT):c.1727-20T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939405	NM_152419.3(HGSNAT):c.1378-17T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939399	NM_152419.3(HGSNAT):c.744-20T>G	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2939256	NM_152419.3(HGSNAT):c.820+7T>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2938905	NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)	HGSNAT (E204*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GPathogenic
Select item 2938904	NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)	HGSNAT (S202N)	Indel (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 2938843	NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2938786	NM_152419.3(HGSNAT):c.1250+15G>C	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2938169	NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2937867	NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2937820	NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 2937317	NM_152419.3(HGSNAT):c.235-19G>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 2937060	NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign

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