ClinVar for MedGen (Select 43375) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065816	NM_000512.5(GALNS):c.1140-2A>G	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 3065268	NM_000512.5(GALNS):c.460C>A (p.His154Asn)	GALNS (H154N +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 3024388	NM_000512.5(GALNS):c.121-338_244+1del	GALNS	Deletion (intron variant +3 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3024342	NM_000512.5(GALNS):c.1139+2T>C	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3024341	NM_000512.5(GALNS):c.898+2T>A	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3024340	NM_000512.5(GALNS):c.121-2_121-1insTGCATTTGCTGGCATA	GALNS	Insertion (splice acceptor variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3020988	NM_000512.5(GALNS):c.759-16del	GALNS	Deletion (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GBenign
Select item 3018960	NM_000512.5(GALNS):c.1101C>T (p.Asn367=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3018378	NM_000512.5(GALNS):c.705G>A (p.Thr235=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3018096	NM_000512.5(GALNS):c.320-14C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3016244	NM_000512.5(GALNS):c.345C>T (p.Gly115=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3013764	NM_000512.5(GALNS):c.447C>T (p.Phe149=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3013496	NM_000512.5(GALNS):c.1002+16C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3012904	NM_000512.5(GALNS):c.540G>A (p.Val180=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3012873	NM_000512.5(GALNS):c.245-25TTCTGT[3]	GALNS	Microsatellite (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3012534	NM_000512.5(GALNS):c.245-10C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3011454	NM_000512.5(GALNS):c.566+1G>A	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 3010695	NM_000512.5(GALNS):c.639C>T (p.Ala213=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3009302	NM_000512.5(GALNS):c.984G>A (p.Gly328=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3009273	NM_000512.5(GALNS):c.717C>A (p.Val239=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3009051	NM_000512.5(GALNS):c.1446G>A (p.Ala482=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3008901	NM_000512.5(GALNS):c.831C>T (p.Val277=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3008893	NM_000512.5(GALNS):c.592C>T (p.Leu198=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3008368	NM_000512.5(GALNS):c.1365-14CT[2]	LOC126862447, GALNS	Microsatellite (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3006754	NM_000512.5(GALNS):c.141G>A (p.Gly47=)	GALNS	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3005896	NM_000512.5(GALNS):c.1317C>T (p.Pro439=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3002465	NM_000512.5(GALNS):c.245-5C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3002356	NM_000512.5(GALNS):c.267A>C (p.Gly89=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3001329	NM_000512.5(GALNS):c.519G>A (p.Lys173=)	GALNS	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 3001191	NM_000512.5(GALNS):c.612C>T (p.Asn204=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2999900	NM_000512.5(GALNS):c.387G>A (p.Lys129=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2998847	NM_000512.5(GALNS):c.102G>T (p.Leu34=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2997167	NM_000512.5(GALNS):c.1440C>T (p.Val480=)	LOC126862447, GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2994041	NM_000512.5(GALNS):c.1263G>A (p.Gly421=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2992969	NM_000512.5(GALNS):c.21G>C (p.Ala7=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2992003	NM_000512.5(GALNS):c.1242+10T>C	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2991062	NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)	GALNS (G16R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2990419	NM_000512.5(GALNS):c.348C>T (p.Gly116=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2989688	NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)	GALNS (W496* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2987250	NM_000512.5(GALNS):c.1365-20C>G	GALNS, LOC126862447	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2985498	NM_000512.5(GALNS):c.1278G>A (p.Gly426=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2985168	NM_000512.5(GALNS):c.96C>T (p.Asn32=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2982976	NM_000512.5(GALNS):c.1139+18C>A	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2981800	NM_000512.5(GALNS):c.1242+11C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2978926	NM_000512.5(GALNS):c.1140-20C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2976270	NM_000512.5(GALNS):c.1110C>T (p.Pro370=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2973342	NM_000512.5(GALNS):c.758+7C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2968064	NM_000512.5(GALNS):c.566+16C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2965289	NM_000512.5(GALNS):c.696C>T (p.Val232=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2964992	NM_000512.5(GALNS):c.121-12T>C	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2962234	NM_000512.5(GALNS):c.898+11G>A	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2960909	NM_000512.5(GALNS):c.899-12C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2960304	NM_000512.5(GALNS):c.657A>G (p.Arg219=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2960087	NM_000512.5(GALNS):c.1077C>T (p.Ser359=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2958072	NM_000512.5(GALNS):c.566+9G>A	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2956261	NM_000512.5(GALNS):c.121-20C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2955359	NM_000512.5(GALNS):c.1563C>T (p.Ser521=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2918877	NM_000512.5(GALNS):c.471T>C (p.Asp157=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2918508	NM_000512.5(GALNS):c.1510T>C (p.Leu504=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2917117	NM_000512.5(GALNS):c.245-17C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2914449	NM_000512.5(GALNS):c.972A>G (p.Ala324=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2914202	NM_000512.5(GALNS):c.867C>T (p.Asn289=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2913973	NM_000512.5(GALNS):c.87G>A (p.Gln29=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2912015	NM_000512.5(GALNS):c.618C>T (p.Thr206=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2911694	NM_000512.5(GALNS):c.786T>C (p.Asp262=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2911644	NM_000512.5(GALNS):c.1566C>T (p.His522=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2910965	NM_000512.5(GALNS):c.1364+11G>A	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2910913	NM_000512.5(GALNS):c.120+8C>G	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2910701	NM_000512.5(GALNS):c.120+12C>G	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2909685	NM_000512.5(GALNS):c.1464G>A (p.Val488=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2909463	NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)	GALNS (A234S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2909361	NM_000512.5(GALNS):c.1011C>T (p.His337=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2907550	NM_000512.5(GALNS):c.1122G>A (p.Gln374=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2907019	NM_000512.5(GALNS):c.898+13T>C	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2906870	NM_000512.5(GALNS):c.363G>A (p.Glu121=)	GALNS	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2905665	NM_000512.5(GALNS):c.758+17T>C	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2905564	NM_000512.5(GALNS):c.244+9G>C	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2904672	NM_000512.5(GALNS):c.120+20C>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2904380	NM_000512.5(GALNS):c.758+15C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2903542	NM_000512.5(GALNS):c.156C>G (p.Pro52=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2903541	NM_000512.5(GALNS):c.422+9C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2903539	NM_000512.5(GALNS):c.927G>A (p.Gly309=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2903147	NM_000512.5(GALNS):c.654G>A (p.Lys218=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2901878	NM_000512.5(GALNS):c.414C>T (p.Val138=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2901628	NM_000512.5(GALNS):c.1314G>A (p.Leu438=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2899073	NM_000512.5(GALNS):c.1139+14C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2898664	NM_000512.5(GALNS):c.330G>T (p.Pro110=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2897113	NM_000512.5(GALNS):c.1483-17C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2895661	NM_000512.5(GALNS):c.319+15G>A	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2895401	NM_000512.5(GALNS):c.898+8C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2894691	NM_000512.5(GALNS):c.1167G>A (p.Thr389=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2894188	NM_000512.5(GALNS):c.1038C>T (p.Phe346=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2893994	NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)	TRAPPC2L, GALNS +1 more	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 2893197	NM_000512.5(GALNS):c.567-15C>T	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2892379	NM_000512.5(GALNS):c.1509G>A (p.Lys503=)	GALNS	Single nucleotide variant (synonymous variant)	GALNS-related condition +1 more	GLikely benign
Select item 2892199	NM_000512.5(GALNS):c.1467C>T (p.Cys489=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2890998	NM_000512.5(GALNS):c.111C>T (p.Leu37=)	GALNS, LOC130059762 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2889603	NM_000512.5(GALNS):c.339T>C (p.Ile113=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2888683	NM_000512.5(GALNS):c.378G>A (p.Glu126=)	GALNS	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign
Select item 2888301	NM_000512.5(GALNS):c.1068G>A (p.Thr356=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely benign

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