ClinVar for MedGen (Select 468447) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016857	NM_002764.4(PRPS1):c.54A>G (p.Lys18=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3015392	NM_002764.4(PRPS1):c.248G>T (p.Ser83Ile)	PRPS1 (S83I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 3009210	NM_000166.6(GJB1):c.759T>C (p.Ser253=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3007506	NM_000166.6(GJB1):c.201A>G (p.Gln67=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3002165	NM_002764.4(PRPS1):c.594G>A (p.Lys198=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3000861	NM_000166.6(GJB1):c.762G>A (p.Glu254=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2999200	NM_002764.4(PRPS1):c.865-19T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2991743	NM_002764.4(PRPS1):c.393T>G (p.Ala131=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2991012	NM_002764.4(PRPS1):c.530+15A>T	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2979140	NM_000166.6(GJB1):c.675C>T (p.Ser225=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2972995	NM_000166.6(GJB1):c.185G>C (p.Ser62Thr)	GJB1 (S62T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2968114	NM_002764.4(PRPS1):c.405+7G>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2962288	NM_002764.4(PRPS1):c.778C>T (p.Arg260Cys)	PRPS1 (R260C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2959871	NM_002764.4(PRPS1):c.834G>A (p.Glu278=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2954149	NM_004208.4(AIFM1):c.1076-10G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2951460	NM_004208.4(AIFM1):c.77G>C (p.Arg26Pro)	AIFM1, LOC130068679 +1 more (R26P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2950927	NM_004208.4(AIFM1):c.250-6C>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2950317	NM_004208.4(AIFM1):c.1636A>C (p.Ser546Arg)	AIFM1, RAB33A (S207R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2949781	NM_004208.4(AIFM1):c.1076-14G>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948631	NM_004208.4(AIFM1):c.1076-6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948133	NM_004208.4(AIFM1):c.1155C>T (p.Asp385=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948033	NM_004208.4(AIFM1):c.1076-7T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947856	NM_004208.4(AIFM1):c.51G>T (p.Val17=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947625	NM_004208.4(AIFM1):c.881A>G (p.Glu294Gly)	AIFM1, RAB33A (E290G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2947352	NM_004208.4(AIFM1):c.350-5T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2947002	NM_004208.4(AIFM1):c.723C>T (p.Asn241=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2946230	NM_004208.4(AIFM1):c.98G>A (p.Arg33Gln)	AIFM1, LOC130068679 +1 more (R33Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2946132	NM_004208.4(AIFM1):c.1771-8T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2943270	NM_004208.4(AIFM1):c.318A>G (p.Pro106=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2942879	NM_004208.4(AIFM1):c.756C>T (p.Thr252=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2942676	NM_004208.4(AIFM1):c.1448+12G>A	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2942330	NM_004208.4(AIFM1):c.1337A>G (p.Lys446Arg)	AIFM1, RAB33A (K107R +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2941935	NM_004208.4(AIFM1):c.700G>C (p.Val234Leu)	AIFM1, RAB33A (V230L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2941235	NM_004208.4(AIFM1):c.1161G>A (p.Arg387=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941191	NM_004208.4(AIFM1):c.967+15G>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941138	NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)	AIFM1, RAB33A (G224A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2941013	NM_004208.4(AIFM1):c.1373C>G (p.Ala458Gly)	AIFM1, RAB33A (A454G +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940562	NM_004208.4(AIFM1):c.397C>T (p.Pro133Ser)	AIFM1, RAB33A (P129S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940453	NM_004208.4(AIFM1):c.1164+9G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2939214	NM_004208.4(AIFM1):c.651G>C (p.Leu217=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2938751	NM_004208.4(AIFM1):c.1441A>G (p.Met481Val)	AIFM1, RAB33A (M142V +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2938748	NM_004208.4(AIFM1):c.819T>A (p.Ala273=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2938337	NM_004208.4(AIFM1):c.537G>A (p.Leu179=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2937443	NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)	AIFM1, RAB33A (E329G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2937368	NM_004208.4(AIFM1):c.31G>C (p.Ala11Pro)	AIFM1, LOC130068679 +1 more (A11P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2936886	NM_004208.4(AIFM1):c.1573+3A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2936547	NM_004208.4(AIFM1):c.1608C>T (p.Ser536=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2936083	NM_004208.4(AIFM1):c.559G>A (p.Val187Ile)	AIFM1, RAB33A (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935678	NM_004208.4(AIFM1):c.606-15C>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935650	NM_004208.4(AIFM1):c.349+13_349+14insTCCCTAC	AIFM1, RAB33A	Insertion (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935332	NM_004208.4(AIFM1):c.606-17CT[2]	AIFM1, RAB33A	Microsatellite (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935101	NM_004208.4(AIFM1):c.1553A>G (p.Lys518Arg)	AIFM1, RAB33A (K514R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2934821	NM_004208.4(AIFM1):c.782-11C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GBenign
Select item 2934504	NM_004208.4(AIFM1):c.258G>T (p.Lys86Asn)	AIFM1, RAB33A (K86N +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2934417	NM_004208.4(AIFM1):c.1679A>G (p.Tyr560Cys)	AIFM1, RAB33A (Y560C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2934140	NM_004208.4(AIFM1):c.249+18G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2933356	NM_004208.4(AIFM1):c.1195G>A (p.Gly399Ser)	AIFM1, RAB33A (G60S +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 2933243	NM_004208.4(AIFM1):c.1559C>T (p.Ala520Val)	AIFM1, RAB33A (A516V +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2932529	NM_004208.4(AIFM1):c.966G>A (p.Lys322=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2932457	NM_004208.4(AIFM1):c.1589C>T (p.Ser530Leu)	AIFM1, RAB33A (S191L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2931833	NM_004208.4(AIFM1):c.562A>G (p.Thr188Ala)	AIFM1, RAB33A (T188A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2931826	NM_004208.4(AIFM1):c.1356A>G (p.Val452=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2931269	NM_004208.4(AIFM1):c.696+20_696+22del	AIFM1, RAB33A	Microsatellite (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2931216	NM_004208.4(AIFM1):c.349+6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2929649	NM_004208.4(AIFM1):c.1005C>T (p.Pro335=)	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +3 more)	AIFM1-related condition +2 more	GLikely benign
Select item 2929565	NM_004208.4(AIFM1):c.738T>C (p.Asn246=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2929452	NM_004208.4(AIFM1):c.1771-14T>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2928438	NM_004208.4(AIFM1):c.1112C>A (p.Ser371Tyr)	AIFM1, RAB33A (S371Y +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2928089	NM_004208.4(AIFM1):c.1740C>T (p.Asn580=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2928059	NM_004208.4(AIFM1):c.649C>T (p.Leu217=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GBenign
Select item 2925996	NM_004208.4(AIFM1):c.781+19G>A	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2925030	NM_004208.4(AIFM1):c.173G>T (p.Gly58Val)	AIFM1, RAB33A (G58V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2923976	NM_004208.4(AIFM1):c.846G>A (p.Thr282=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2923785	NM_004208.4(AIFM1):c.1719C>T (p.Val573=)	AIFM1, RAB33A	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2921945	NM_004208.4(AIFM1):c.967+9T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2921429	NM_004208.4(AIFM1):c.1044C>T (p.Leu348=)	AIFM1, RAB33A	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2914615	NM_002764.4(PRPS1):c.333T>G (p.Leu111=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2906958	NM_002764.4(PRPS1):c.530+19T>G	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2897554	NM_000166.6(GJB1):c.430T>C (p.Leu144=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2892184	NM_000166.6(GJB1):c.711C>T (p.His237=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2891140	NM_002764.4(PRPS1):c.600T>C (p.Asn200=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2890827	NM_002764.4(PRPS1):c.519T>G (p.Gly173=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2886719	NM_000166.6(GJB1):c.825A>G (p.Glu275=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2886332	NM_000166.6(GJB1):c.309G>A (p.Lys103=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2884353	NM_000166.6(GJB1):c.804C>T (p.Gly268=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2880901	NM_002764.4(PRPS1):c.717T>G (p.Ala239=)	PRPS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2875332	NM_002764.4(PRPS1):c.39G>A (p.Gln13=)	PRPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2865738	NM_002764.4(PRPS1):c.357A>C (p.Ala119=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2863019	NM_000166.6(GJB1):c.198C>G (p.Asp66Glu)	GJB1 (D66E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2859076	NM_002764.4(PRPS1):c.612C>T (p.Arg204=)	PRPS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2858616	NM_002764.4(PRPS1):c.382G>C (p.Asp128His)	PRPS1 (D128H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2857643	NM_000166.6(GJB1):c.-16-35_264del	GJB1	Deletion (splice acceptor variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2856409	NM_002764.4(PRPS1):c.864+23del	PRPS1	Deletion (intron variant)	Charcot-Marie-Tooth Neuropathy X	GBenign
Select item 2854204	NM_002764.4(PRPS1):c.705-5T>A	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2850352	NM_002764.4(PRPS1):c.122+13T>C	PRPS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2850192	NM_000166.6(GJB1):c.668_675del (p.Arg223fs)	GJB1 (R223fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2850100	NM_000166.6(GJB1):c.231G>T (p.Trp77Cys)	GJB1 (W77C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2850096	NM_000166.6(GJB1):c.816G>A (p.Gly272=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2847429	NM_000166.6(GJB1):c.345dup (p.His116fs)	GJB1 (H116fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2846944	NM_000166.6(GJB1):c.216C>G (p.Ser72=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign

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