ClinVar for MedGen (Select 5288) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064088	NM_000147.5(FUCA1):c.1123del (p.Trp375fs)	FUCA1 (W375fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 3023271	NM_000147.5(FUCA1):c.662+12A>G	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 3021824	NM_000147.5(FUCA1):c.662+10T>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 3016239	NM_000147.5(FUCA1):c.524+17G>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 3015965	NM_000147.5(FUCA1):c.375G>A (p.Gln125=)	FUCA1, LOC129929685	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 3015260	NM_000147.5(FUCA1):c.255G>A (p.Gly85=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 3012164	NM_000147.5(FUCA1):c.1260+8G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 3006620	NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)	FUCA1 (K57fs)	Duplication (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 3000083	NM_000147.5(FUCA1):c.769-14C>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2996775	NM_000147.5(FUCA1):c.81G>C (p.Ser27=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2996731	NM_000147.5(FUCA1):c.1161-5C>T	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2991222	NM_000147.5(FUCA1):c.750C>T (p.Tyr250=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2989543	NM_000147.5(FUCA1):c.297C>T (p.Pro99=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2967433	NM_000147.5(FUCA1):c.9T>C (p.Ala3=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2965093	NM_000147.5(FUCA1):c.312C>G (p.Ala104=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2963686	NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2962031	NM_000147.5(FUCA1):c.291C>T (p.Tyr97=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2960993	NM_000147.5(FUCA1):c.15G>T (p.Gly5=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2958440	NM_000147.5(FUCA1):c.524+14G>A	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2957245	NM_000147.5(FUCA1):c.345C>T (p.Phe115=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2915985	NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2915651	NM_000147.5(FUCA1):c.390-9T>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2914319	NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)	FUCA1 (Q352*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 2910847	NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)	FUCA1, LOC126805661 (N154fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 2910786	NM_000147.5(FUCA1):c.1158A>G (p.Val386=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2909612	NM_000147.5(FUCA1):c.516C>G (p.Leu172=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2907681	NM_000147.5(FUCA1):c.111C>T (p.Tyr37=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2907327	NM_000147.5(FUCA1):c.1160+17G>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2907270	NM_000147.5(FUCA1):c.1261-1G>A	FUCA1	Single nucleotide variant (splice acceptor variant)	Fucosidosis	GLikely pathogenic
Select item 2897990	NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2897786	NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2893706	NM_000147.5(FUCA1):c.393T>C (p.Tyr131=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2893370	NM_000147.5(FUCA1):c.783A>G (p.Val261=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2887120	NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GBenign
Select item 2886128	NM_000147.5(FUCA1):c.324G>T (p.Pro108=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2885817	NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)	FUCA1 (L186*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 2884907	NM_000147.5(FUCA1):c.1261-18C>T	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2884341	NM_000147.5(FUCA1):c.6G>C (p.Arg2=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2879880	NM_000147.5(FUCA1):c.524+9C>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2879196	NM_000147.5(FUCA1):c.1161-19G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2878433	NM_000147.5(FUCA1):c.607del (p.Thr203fs)	FUCA1 (T203fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 2873243	NM_000147.5(FUCA1):c.1260+2T>A	FUCA1	Single nucleotide variant (splice donor variant)	Fucosidosis	GPathogenic
Select item 2870077	NM_000147.5(FUCA1):c.573A>G (p.Pro191=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2869328	NM_000147.5(FUCA1):c.654T>C (p.Leu218=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2866971	NM_000147.5(FUCA1):c.970-6C>T	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2864861	NM_000147.5(FUCA1):c.769-2A>C	FUCA1	Single nucleotide variant (splice acceptor variant)	Fucosidosis	GLikely pathogenic
Select item 2861526	NM_000147.5(FUCA1):c.390-6C>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2859408	NM_000147.5(FUCA1):c.524+7G>A	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2856530	NM_000147.5(FUCA1):c.390-11G>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2856296	NM_000147.5(FUCA1):c.1261-14T>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2853609	NM_000147.5(FUCA1):c.389+13C>A	FUCA1, LOC129929685	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2849047	NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)	FUCA1 (S8*)	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic
Select item 2848175	NM_000147.5(FUCA1):c.777G>A (p.Val259=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2841141	NM_000147.5(FUCA1):c.389+14C>G	LOC129929685, FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2839403	NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)	FUCA1 (Y97*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 2839070	NM_000147.5(FUCA1):c.249C>T (p.Gly83=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2838100	NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)	FUCA1 (W188*)	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic
Select item 2836978	NM_000147.5(FUCA1):c.585T>G (p.Leu195=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2836315	NM_000147.5(FUCA1):c.970-17G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2835980	NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2826918	NM_000147.5(FUCA1):c.389+18del	FUCA1, LOC129929685	Deletion (non-coding transcript variant +1 more)	Fucosidosis	GBenign
Select item 2826477	NM_000147.5(FUCA1):c.177G>C (p.Gly59=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2825374	NM_000147.5(FUCA1):c.46T>C (p.Leu16=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2824882	NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2824353	NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)	FUCA1 (S27*)	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic
Select item 2821626	NM_000147.5(FUCA1):c.1161-21GT[3]	FUCA1	Microsatellite (intron variant)	Fucosidosis	GLikely benign
Select item 2820130	NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2816272	NM_000147.5(FUCA1):c.1160+10_1160+14del	FUCA1	Microsatellite (intron variant)	Fucosidosis	GLikely benign
Select item 2807737	NM_000147.5(FUCA1):c.525-13T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2801289	NM_000147.5(FUCA1):c.609A>G (p.Thr203=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2796539	NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2795018	NM_000147.5(FUCA1):c.768+19T>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2794438	NM_000147.5(FUCA1):c.66C>T (p.Leu22=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2793683	NM_000147.5(FUCA1):c.30G>A (p.Pro10=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2791475	NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)	FUCA1 (I227fs)	Microsatellite (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic
Select item 2791421	NM_000147.5(FUCA1):c.402G>A (p.Leu134=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2787551	NM_000147.5(FUCA1):c.51G>A (p.Leu17=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2783003	NM_000147.5(FUCA1):c.84G>T (p.Val28=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2778101	NM_000147.5(FUCA1):c.843T>C (p.Asp281=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2769499	NM_000147.5(FUCA1):c.417C>T (p.His139=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2767073	NM_000147.5(FUCA1):c.970-12T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2766802	NM_000147.5(FUCA1):c.769-4T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2760782	NM_000147.5(FUCA1):c.462C>T (p.Asn154=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2757124	NM_000147.5(FUCA1):c.293dup (p.Pro99fs)	FUCA1 (P99fs)	Duplication (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 2754765	NM_000147.5(FUCA1):c.153C>G (p.Ala51=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2754562	NM_000147.5(FUCA1):c.1161-17T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2750156	NM_000147.5(FUCA1):c.389+4A>C	FUCA1, LOC129929685	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GUncertain significance
Select item 2749012	NM_000147.5(FUCA1):c.969+1G>T	FUCA1	Single nucleotide variant (splice donor variant)	Fucosidosis	GPathogenic
Select item 2747700	NM_000147.5(FUCA1):c.519G>A (p.Arg173=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2747588	NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2747195	NM_000147.5(FUCA1):c.27G>C (p.Arg9=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2745920	NM_000147.5(FUCA1):c.1032T>C (p.Asp344=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2745626	NM_000147.5(FUCA1):c.970-7T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2745555	NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)	FUCA1 (E119fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 2745354	NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)	FUCA1 (W228*)	Microsatellite (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 2744941	NM_000147.5(FUCA1):c.738T>G (p.Leu246=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2742157	NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2740826	NM_000147.5(FUCA1):c.471C>T (p.Asp157=)	LOC126805661, FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2738333	NM_000147.5(FUCA1):c.15G>A (p.Gly5=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2737942	NM_000147.5(FUCA1):c.954A>G (p.Glu318=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign

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