ClinVar for MedGen (Select 315658) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764799	NM_006306.4(SMC1A):c.622C>T (p.Arg208Trp)	SMC1A (R186W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3728846	NM_006306.4(SMC1A):c.2314-7T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3728770	NM_006306.4(SMC1A):c.2973+5G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3728697	NM_006306.4(SMC1A):c.1842C>T (p.Gly614=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3727175	NM_006306.4(SMC1A):c.855-13C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3727159	NM_006306.4(SMC1A):c.3285+12C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3726735	NM_006306.4(SMC1A):c.2904A>G (p.Arg968=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3724237	NM_006306.4(SMC1A):c.1405C>T (p.Arg469Cys)	SMC1A (R469C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 3722928	NM_006306.4(SMC1A):c.1911+16C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3719780	NM_006306.4(SMC1A):c.1465A>G (p.Ile489Val)	SMC1A (I489V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3717980	NM_006306.4(SMC1A):c.855-6C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3714385	NM_006306.4(SMC1A):c.3612T>C (p.Tyr1204=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3711160	NM_006306.4(SMC1A):c.125T>C (p.Met42Thr)	SMC1A (M20T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3710915	NM_006306.4(SMC1A):c.241A>G (p.Ser81Gly)	SMC1A (S59G +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3705736	NM_006306.4(SMC1A):c.2973+14A>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3703507	NM_006306.4(SMC1A):c.3529C>G (p.Gln1177Glu)	SMC1A (Q1177E +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3702320	NM_006306.4(SMC1A):c.2658C>T (p.Asp886=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3699837	NM_006306.4(SMC1A):c.1707C>G (p.Thr569=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3698337	NM_006306.4(SMC1A):c.1986G>A (p.Lys662=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3695401	NM_006306.4(SMC1A):c.2562+11A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3691168	NM_006306.4(SMC1A):c.3131-17_3131-16inv	SMC1A	Inversion (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3688408	NM_006306.4(SMC1A):c.3437+19G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3687926	NM_006306.4(SMC1A):c.2563-4C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3683714	NM_006306.4(SMC1A):c.1932C>T (p.Thr644=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3682133	NM_006306.4(SMC1A):c.2182G>T (p.Ala728Ser)	SMC1A (A706S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3679937	NM_006306.4(SMC1A):c.2988G>A (p.Glu996=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3679363	NM_006306.4(SMC1A):c.1389G>A (p.Val463=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3677394	NM_006306.4(SMC1A):c.109+16C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3674692	NM_006306.4(SMC1A):c.1545+19C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3672247	NM_006306.4(SMC1A):c.2028G>A (p.Glu676=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3670745	NM_006306.4(SMC1A):c.792G>A (p.Lys264=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3670367	NM_006306.4(SMC1A):c.987T>C (p.Arg329=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3669215	NM_006306.4(SMC1A):c.2902A>C (p.Arg968=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3667570	NM_006306.4(SMC1A):c.1169C>T (p.Ala390Val)	SMC1A (A368V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3665880	NM_006306.4(SMC1A):c.2434A>G (p.Asn812Asp)	SMC1A (N790D +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3665008	NM_006306.4(SMC1A):c.3534G>A (p.Ser1178=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3664859	NM_006306.4(SMC1A):c.82A>G (p.Thr28Ala)	SMC1A (T28A)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3661942	NM_006306.4(SMC1A):c.2414A>G (p.Lys805Arg)	SMC1A (K805R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3661940	NM_006306.4(SMC1A):c.286del (p.Arg96fs)	SMC1A (R96fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 3661527	NM_006306.4(SMC1A):c.907G>T (p.Glu303Ter)	SMC1A (E281* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 3659769	NM_006306.4(SMC1A):c.887C>G (p.Pro296Arg)	SMC1A (P274R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3655961	NM_006306.4(SMC1A):c.2851del (p.Ser951fs)	SMC1A (S929fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 3654778	NM_006306.4(SMC1A):c.1486dup (p.Arg496fs)	SMC1A (R474fs +1 more)	Duplication (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 3653711	NM_006306.4(SMC1A):c.2451G>A (p.Leu817=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3652356	NM_006306.4(SMC1A):c.3285+10A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3651778	NM_006306.4(SMC1A):c.1114-20C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3650700	NM_006306.4(SMC1A):c.3508-7C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3650587	NM_006306.4(SMC1A):c.3508-5C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3646713	NM_006306.4(SMC1A):c.123C>G (p.Leu41=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3641041	NM_006306.4(SMC1A):c.3043_3044del (p.Ser1015fs)	SMC1A (S1015fs +1 more)	Microsatellite (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 3639793	NM_006306.4(SMC1A):c.2974-8G>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3634914	NM_006306.4(SMC1A):c.2977G>A (p.Ala993Thr)	SMC1A (A971T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3630447	NM_006306.4(SMC1A):c.1221G>A (p.Leu407=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3625131	NM_006306.4(SMC1A):c.2524G>A (p.Val842Met)	SMC1A (V820M +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3624562	NM_006306.4(SMC1A):c.1992G>A (p.Arg664=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3623502	NM_006306.4(SMC1A):c.1338-9A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3615172	NM_006306.4(SMC1A):c.412-12G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3606607	NM_006306.4(SMC1A):c.1912-15C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 3598412	NM_006306.4(SMC1A):c.254C>G (p.Ser85Cys)	SMC1A (S63C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 3598411	NM_006306.4(SMC1A):c.819G>C (p.Met273Ile)	SMC1A (M251I +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 3598409	NM_006306.4(SMC1A):c.1605C>T (p.Thr535=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 3598408	NM_006306.4(SMC1A):c.1647G>A (p.Ser549=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3598407	NM_006306.4(SMC1A):c.2110C>T (p.Gln704Ter)	SMC1A (Q682* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3598406	NM_006306.4(SMC1A):c.2794G>T (p.Ala932Ser)	SMC1A (A932S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 3598405	NM_006306.4(SMC1A):c.3044G>A (p.Ser1015Asn)	SMC1A (S1015N +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 3598403	NM_006306.4(SMC1A):c.3316C>T (p.Pro1106Ser)	SMC1A (P1084S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 3392521	NM_006306.4(SMC1A):c.2683C>T (p.Arg895Cys)	SMC1A (R873C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 3383223	NM_006306.4(SMC1A):c.1274T>C (p.Leu425Pro)	SMC1A (L403P +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 3381846	NM_006306.4(SMC1A):c.1915G>A (p.Val639Met)	SMC1A (V617M +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3378030	NM_006306.4(SMC1A):c.2705A>G (p.Asn902Ser)	SMC1A (N880S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more	GUncertain significance
Select item 3244205	NC_000023.10:g.(?_53222149)_(53560392_?)dup	HSD17B10, HUWE1 +4 more	Duplication	Congenital muscular hypertrophy-cerebral syndrome	GBenign
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)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GLikely pathogenic
Select item 3061646	NM_006306.4(SMC1A):c.2526G>A (p.Val842=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
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 +1 more	GConflicting classifications of pathogenicity
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)	not specified +1 more	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

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