ClinVar for MedGen (Select 315658) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066389	NM_006306.4(SMC1A):c.2767C>T (p.Arg923Cys)	SMC1A (R901C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3062286	NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)	SMC1A (Y589* +1 more)	Duplication (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3024321	NM_006306.4(SMC1A):c.298+2T>C	SMC1A	Single nucleotide variant (splice donor variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic
Select item 3024284	NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)	SMC1A (E1018K +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3024232	NM_006306.4(SMC1A):c.2299del (p.Glu767fs)	SMC1A (E745fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3021533	NM_006306.4(SMC1A):c.1338-12del	SMC1A	Deletion (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3020831	NM_006306.4(SMC1A):c.110-19C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3005522	NM_006306.4(SMC1A):c.2563-7G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 3001193	NM_006306.4(SMC1A):c.1546-17C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2995351	NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2994134	NM_006306.4(SMC1A):c.2973+11A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2993918	NM_006306.4(SMC1A):c.184C>A (p.Arg62=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2988729	NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)	SMC1A (M815L +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2987987	NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)	SMC1A (R331W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2987917	NM_006306.4(SMC1A):c.2708+16C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2987036	NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)	SMC1A (D1197N +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2980219	NM_006306.4(SMC1A):c.2973+16A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2975260	NM_006306.4(SMC1A):c.2421-14A>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2972963	NM_006306.4(SMC1A):c.1099T>C (p.Leu367=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2970730	NM_006306.4(SMC1A):c.2563-3C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2963974	NM_006306.4(SMC1A):c.1732-6C>T	MIR6857, SMC1A	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2960288	NM_006306.4(SMC1A):c.855-12C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2960054	NM_006306.4(SMC1A):c.1337+15A>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2957912	NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)	SMC1A (I862T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2955692	NM_006306.4(SMC1A):c.1080T>C (p.Ser360=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2910872	NM_006306.4(SMC1A):c.3131-15C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2902258	NM_006306.4(SMC1A):c.2562+13A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2893288	NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2884107	NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)	SMC1A (R18*)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2881419	NM_006306.4(SMC1A):c.378T>A (p.Ile126=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2877961	NM_006306.4(SMC1A):c.1402C>A (p.Arg468=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2876796	NM_006306.4(SMC1A):c.3246T>C (p.Asp1082=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2872049	NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His)	SMC1A (R1019H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2866123	NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)	SMC1A (W816* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2864811	NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)	SMC1A (S1124R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2863819	NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)	SMC1A (D833G +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2861044	NM_006306.4(SMC1A):c.2943T>C (p.Ile981=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2859683	NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)	SMC1A (G643* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2857753	NM_006306.4(SMC1A):c.1962T>G (p.Gly654=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2854735	NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)	SMC1A (D405N +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2854063	NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)	SMC1A (K854Q +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2853987	NM_006306.4(SMC1A):c.1911+11C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2853862	NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)	SMC1A (S1011fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2853400	NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)	SMC1A (E313D +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2852065	NM_006306.4(SMC1A):c.336C>G (p.Val112=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2846383	NM_006306.4(SMC1A):c.412-7T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2845771	NM_006306.4(SMC1A):c.1114-21_1114-19del	SMC1A	Deletion (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2844162	NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)	SMC1A (K247E +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2843091	NM_006306.4(SMC1A):c.1912-10C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2840810	NM_006306.4(SMC1A):c.2421-16C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2839208	NM_006306.4(SMC1A):c.1920A>T (p.Ala640=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2838304	NM_006306.4(SMC1A):c.2278A>C (p.Arg760=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2835693	NM_006306.4(SMC1A):c.2563-3C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2834272	NM_006306.4(SMC1A):c.110-12C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2832942	NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)	SMC1A (C759* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2831604	NM_006306.4(SMC1A):c.1239G>A (p.Lys413=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2827021	NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)	SMC1A (K918T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2825832	NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg)	SMC1A (S361R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2825150	NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)	SMC1A (L1141P +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2820524	NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)	SMC1A (A171V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2817976	NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)	SMC1A (L297fs +1 more)	Microsatellite (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2815859	NM_006306.4(SMC1A):c.2709-16C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2814014	NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2812114	NM_006306.4(SMC1A):c.855-1G>A	SMC1A	Single nucleotide variant (splice acceptor variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 2809694	NM_006306.4(SMC1A):c.2563-13C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2808994	NM_006306.4(SMC1A):c.1447del (p.Gln483fs)	SMC1A (Q461fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2807577	NM_006306.4(SMC1A):c.2973+12C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2804011	NM_006306.4(SMC1A):c.1152G>A (p.Lys384=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2803435	NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)	SMC1A (K236R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2800214	NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)	SMC1A (K267R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2798602	NM_006306.4(SMC1A):c.109+19C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2791957	NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)	SMC1A (T702I +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2791917	NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2790932	NM_006306.4(SMC1A):c.299-19C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2787993	NM_006306.4(SMC1A):c.616-4A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2783445	NM_006306.4(SMC1A):c.357G>A (p.Glu119=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2779633	NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)	SMC1A (Q1155R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2775947	NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)	SMC1A (R275Q +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2772432	NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)	SMC1A (S942fs +1 more)	Microsatellite (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic
Select item 2769938	NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)	SMC1A (S949I +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2767437	NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)	SMC1A (D989V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2767128	NM_006306.4(SMC1A):c.2346G>C (p.Arg782=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2766620	NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)	SMC1A (R642fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2762680	NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2762375	NM_006306.4(SMC1A):c.582T>C (p.Ala194=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2762155	NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2755287	NM_006306.4(SMC1A):c.2592T>C (p.Asp864=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2750417	NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)	SMC1A (A932T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2749657	NM_006306.4(SMC1A):c.2523A>G (p.Thr841=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2747445	NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)	SMC1A (E281D +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2747066	NM_006306.4(SMC1A):c.299-12A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2745677	NM_006306.4(SMC1A):c.813C>T (p.Gly271=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2745348	NM_006306.4(SMC1A):c.1191T>C (p.Asn397=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2743919	NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)	SMC1A (E767del +1 more)	Deletion (inframe_deletion)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2743192	NM_006306.4(SMC1A):c.3438-8C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2739624	NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)	SMC1A (A1094T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2729785	NM_006306.4(SMC1A):c.3508-18T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2729475	NM_006306.4(SMC1A):c.2700C>G (p.Gly900=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2723531	NM_006306.4(SMC1A):c.972G>A (p.Lys324=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2720684	NM_006306.4(SMC1A):c.2973+16A>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign

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