ClinVar for MedGen (Select 481850) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256866	NM_001376.5(DYNC1H1):c.1182del (p.Val395fs)	DYNC1H1 (V395fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely pathogenic
Select item 3256727	NM_001376.5(DYNC1H1):c.4462C>T (p.Arg1488Cys)	DYNC1H1 (R1488C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely pathogenic
Select item 3256726	NM_001376.5(DYNC1H1):c.3185A>G (p.Asp1062Gly)	DYNC1H1 (D1062G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely pathogenic
Select item 3252029	NM_001376.5(DYNC1H1):c.949G>T (p.Asp317Tyr)	DYNC1H1 (D317Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244022	NC_000014.8:g.(?_102502896)_(102506050_?)dup	DYNC1H1	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244021	NC_000014.8:g.(?_102514134)_(102516900_?)dup	DYNC1H1	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244020	NC_000014.8:g.(?_102457844)_(102483861_?)dup	DYNC1H1	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244017	NC_000014.8:g.(?_102460990)_(102461657_?)del	DYNC1H1	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244016	NC_000014.8:g.(?_102348478)_(102516900_?)del	DYNC1H1, PPP2R5C	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3238943	NM_001376.5(DYNC1H1):c.4591A>G (p.Met1531Val)	DYNC1H1 (M1531V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3235956	NM_001376.5(DYNC1H1):c.659G>A (p.Cys220Tyr)	DYNC1H1 (C220Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3235895	NM_001376.5(DYNC1H1):c.4603G>A (p.Asp1535Asn)	DYNC1H1 (D1535N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GUncertain significance
Select item 3068350	NM_001376.5(DYNC1H1):c.5741_5742del (p.Glu1914fs)	DYNC1H1 (E1914fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3023384	NM_001376.5(DYNC1H1):c.11573T>C (p.Ile3858Thr)	DYNC1H1 (I3858T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3023298	NM_001376.5(DYNC1H1):c.6506A>C (p.Gln2169Pro)	DYNC1H1 (Q2169P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3023179	NM_001376.5(DYNC1H1):c.10908+12C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3023143	NM_001376.5(DYNC1H1):c.519-20G>C	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3023142	NM_001376.5(DYNC1H1):c.5817+12T>C	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3022404	NM_001376.5(DYNC1H1):c.11058C>T (p.Val3686=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3022380	NM_001376.5(DYNC1H1):c.6300A>G (p.Ala2100=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3019459	NM_001376.5(DYNC1H1):c.12009C>T (p.Ala4003=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3019308	NM_001376.5(DYNC1H1):c.10414-18G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3019159	NM_001376.5(DYNC1H1):c.6645G>A (p.Gln2215=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3018985	NM_001376.5(DYNC1H1):c.11250A>G (p.Leu3750=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3018860	NM_001376.5(DYNC1H1):c.9469-6T>C	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GConflicting classifications of pathogenicity
Select item 3018744	NM_001376.5(DYNC1H1):c.2538+18C>G	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3018614	NM_001376.5(DYNC1H1):c.11055+9T>C	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3018115	NM_001376.5(DYNC1H1):c.10443C>T (p.Ser3481=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3018108	NM_001376.5(DYNC1H1):c.1705C>T (p.Arg569Trp)	DYNC1H1 (R569W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3016505	NM_001376.5(DYNC1H1):c.13927T>C (p.Leu4643=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3016344	NM_001376.5(DYNC1H1):c.5500A>C (p.Lys1834Gln)	DYNC1H1 (K1834Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3015663	NM_001376.5(DYNC1H1):c.10674G>A (p.Glu3558=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3015224	NM_001376.5(DYNC1H1):c.4527C>T (p.Leu1509=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3015082	NM_001376.5(DYNC1H1):c.7052C>T (p.Ala2351Val)	DYNC1H1 (A2351V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3015049	NM_001376.5(DYNC1H1):c.3334-18G>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3014670	NM_001376.5(DYNC1H1):c.11207-11A>G	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3014213	NM_001376.5(DYNC1H1):c.8748A>G (p.Leu2916=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3014032	NM_001376.5(DYNC1H1):c.5626C>G (p.Gln1876Glu)	DYNC1H1 (Q1876E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3013267	NM_001376.5(DYNC1H1):c.8772-16T>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3013010	NM_001376.5(DYNC1H1):c.5432T>C (p.Leu1811Ser)	DYNC1H1 (L1811S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 3012463	NM_001376.5(DYNC1H1):c.7155C>T (p.Ile2385=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3010632	NM_001376.5(DYNC1H1):c.4320G>A (p.Gln1440=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3009342	NM_001376.5(DYNC1H1):c.11691-18C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3008963	NM_001376.5(DYNC1H1):c.12400-5C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3007659	NM_001376.5(DYNC1H1):c.4079G>A (p.Arg1360Gln)	DYNC1H1 (R1360Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3006217	NM_001376.5(DYNC1H1):c.6162G>A (p.Leu2054=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3005324	NM_001376.5(DYNC1H1):c.473C>T (p.Ala158Val)	DYNC1H1 (A158V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3003996	NM_001376.5(DYNC1H1):c.7329G>A (p.Leu2443=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3003825	NM_001376.5(DYNC1H1):c.10535C>G (p.Ala3512Gly)	DYNC1H1 (A3512G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3003324	NM_001376.5(DYNC1H1):c.4905A>G (p.Glu1635=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3003176	NM_001376.5(DYNC1H1):c.1041C>T (p.Ala347=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3002979	NM_001376.5(DYNC1H1):c.13884A>C (p.Thr4628=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3002292	NM_001376.5(DYNC1H1):c.4758C>T (p.Pro1586=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2999826	NM_001376.5(DYNC1H1):c.7352G>A (p.Arg2451His)	DYNC1H1 (R2451H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2999558	NM_001376.5(DYNC1H1):c.13836C>T (p.Asn4612=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2998956	NM_001376.5(DYNC1H1):c.3963G>A (p.Val1321=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2998903	NM_001376.5(DYNC1H1):c.13006+17C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2997787	NM_001376.5(DYNC1H1):c.13373-18TG[2]	DYNC1H1	Microsatellite (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2997692	NM_001376.5(DYNC1H1):c.8771+20C>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2996301	NM_001376.5(DYNC1H1):c.6732C>G (p.Leu2244=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2995825	NM_001376.5(DYNC1H1):c.8325G>A (p.Glu2775=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2995788	NM_001376.5(DYNC1H1):c.5218A>G (p.Thr1740Ala)	DYNC1H1 (T1740A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2995004	NM_001376.5(DYNC1H1):c.1983C>T (p.Tyr661=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2994680	NM_001376.5(DYNC1H1):c.7213G>C (p.Gly2405Arg)	DYNC1H1 (G2405R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2994070	NM_001376.5(DYNC1H1):c.6618+16T>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2994018	NM_001376.5(DYNC1H1):c.11495T>C (p.Phe3832Ser)	DYNC1H1 (F3832S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2993806	NM_001376.5(DYNC1H1):c.13906T>C (p.Tyr4636His)	DYNC1H1 (Y4636H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2993775	NM_001376.5(DYNC1H1):c.5007T>A (p.Asp1669Glu)	DYNC1H1 (D1669E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2992869	NM_001376.5(DYNC1H1):c.2421C>T (p.Gly807=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2992822	NM_001376.5(DYNC1H1):c.2743C>T (p.Leu915=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2991593	NM_001376.5(DYNC1H1):c.12400-20G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2989095	NM_001376.5(DYNC1H1):c.11791C>A (p.Gln3931Lys)	DYNC1H1 (Q3931K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2988911	NM_001376.5(DYNC1H1):c.8889C>G (p.Val2963=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2988158	NM_001376.5(DYNC1H1):c.10503C>T (p.Ser3501=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2984971	NM_001376.5(DYNC1H1):c.13493C>T (p.Ser4498Phe)	DYNC1H1 (S4498F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2984558	NM_001376.5(DYNC1H1):c.7357C>T (p.Arg2453Cys)	DYNC1H1 (R2453C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2984121	NM_001376.5(DYNC1H1):c.5504C>A (p.Ser1835Tyr)	DYNC1H1 (S1835Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2984090	NM_001376.5(DYNC1H1):c.11581A>G (p.Lys3861Glu)	DYNC1H1 (K3861E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2983041	NM_001376.5(DYNC1H1):c.11691-12C>G	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2982118	NM_001376.5(DYNC1H1):c.8517G>C (p.Glu2839Asp)	DYNC1H1 (E2839D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2981157	NM_001376.5(DYNC1H1):c.6222-16T>C	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2980777	NM_001376.5(DYNC1H1):c.3669C>T (p.Asp1223=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2980249	NM_001376.5(DYNC1H1):c.256+11G>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2978463	NM_001376.5(DYNC1H1):c.7945G>A (p.Val2649Ile)	DYNC1H1 (V2649I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2977553	NM_001376.5(DYNC1H1):c.8303C>T (p.Pro2768Leu)	DYNC1H1 (P2768L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2976999	NM_001376.5(DYNC1H1):c.99C>G (p.His33Gln)	DYNC1H1 (H33Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2976821	NM_001376.5(DYNC1H1):c.6420C>T (p.Ser2140=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2976315	NM_001376.5(DYNC1H1):c.321T>C (p.Ile107=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2976071	NM_001376.5(DYNC1H1):c.11617C>T (p.Arg3873Ter)	DYNC1H1 (R3873*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2975313	NM_001376.5(DYNC1H1):c.10083C>A (p.Asp3361Glu)	DYNC1H1 (D3361E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2974289	NM_001376.5(DYNC1H1):c.7848+6G>C	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2973388	NM_001376.5(DYNC1H1):c.6858-15dup	DYNC1H1	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GBenign
Select item 2973258	NM_001376.5(DYNC1H1):c.7962A>G (p.Gln2654=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2971463	NM_001376.5(DYNC1H1):c.12019A>C (p.Met4007Leu)	DYNC1H1 (M4007L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2969935	NM_001376.5(DYNC1H1):c.3663C>T (p.Phe1221=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2967898	NM_001376.5(DYNC1H1):c.13509G>A (p.Glu4503=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2967666	NM_001376.5(DYNC1H1):c.7242+8C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2964220	NM_001376.5(DYNC1H1):c.8400T>C (p.Thr2800=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2963032	NM_001376.5(DYNC1H1):c.6801C>T (p.Thr2267=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign

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