51102[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 1908849	NM_016011.5(MECR):c.1118T>C (p.Met373Thr)	MECR (M373T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3124840	NM_016011.5(MECR):c.1117A>G (p.Met373Val)	MECR (M323V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2063566	NM_016011.5(MECR):c.1114A>G (p.Thr372Ala)	MECR (T296A +4 more)	Single nucleotide variant (missense variant +1 more)	MECR-related disorder +1 more	GBenign/Likely benign
Select item 2965302	NM_016011.5(MECR):c.1113C>T (p.Leu371=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796362	NM_016011.5(MECR):c.1104G>A (p.Lys368=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2745781	NM_016011.5(MECR):c.1101A>G (p.Ser367=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2113733	NM_016011.5(MECR):c.1093A>C (p.Ile365Leu)	MECR (I315L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081635	NM_016011.5(MECR):c.1080C>T (p.Ser360=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2709329	NM_016011.5(MECR):c.1077C>A (p.Ala359=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2829950	NM_016011.5(MECR):c.1068C>T (p.Ala356=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011730	NM_016011.5(MECR):c.1062G>A (p.Gln354=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175054	NM_016011.5(MECR):c.1056C>G (p.Asp352Glu)	MECR (D302E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964952	NM_016011.5(MECR):c.1047G>A (p.Pro349=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907098	NM_016011.5(MECR):c.1047G>T (p.Pro349=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1310493	NM_016011.5(MECR):c.1022C>T (p.Thr341Ile)	MECR (T265I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444775	NM_016011.5(MECR):c.1010G>A (p.Arg337Gln)	MECR (R287Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2870293	NM_016011.5(MECR):c.1008C>T (p.Arg336=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053288	NM_016011.5(MECR):c.1006C>T (p.Arg336Cys)	MECR (R336C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2427916	NM_016011.5(MECR):c.1002C>T (p.Leu334=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559111	NM_016011.5(MECR):c.1002C>A (p.Leu334=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987557	NM_016011.5(MECR):c.996C>T (p.Cys332=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1395625	NM_016011.5(MECR):c.976_977delinsTT (p.Glu326Leu)	MECR (E276L +4 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3021941	NM_016011.5(MECR):c.969G>A (p.Gln323=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1473747	NM_016011.5(MECR):c.965-3C>T	MECR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071307	NM_016011.5(MECR):c.965-4G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995976	NM_016011.5(MECR):c.965-5C>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757495	NM_016011.5(MECR):c.965-10C>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489272	NM_016011.5(MECR):c.965-11A>G	MECR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1646644	NM_016011.5(MECR):c.965-14C>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241568	NM_016011.5(MECR):c.964+69C>T	MECR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2825228	NM_016011.5(MECR):c.964+19G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807851	NM_016011.5(MECR):c.964+14C>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708036	NM_016011.5(MECR):c.964+14C>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969782	NM_016011.5(MECR):c.964+13C>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001077	NM_016011.5(MECR):c.964+12G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826443	NM_016011.5(MECR):c.964+8C>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792786	NM_016011.5(MECR):c.960T>C (p.Ser320=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381057	NM_016011.5(MECR):c.945G>A (p.Trp315Ter)	MECR (W239* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2206497	NM_016011.5(MECR):c.942G>C (p.Gln314His)	MECR (Q314H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1947984	NM_016011.5(MECR):c.923G>A (p.Arg308Gln)	MECR (R232Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2131444	NM_016011.5(MECR):c.910G>A (p.Asp304Asn)	MECR (D254N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1173961	NM_016011.5(MECR):c.910G>T (p.Asp304Tyr)	MECR (D304Y +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	GPathogenic
Select item 2836545	NC_000001.11:g.29195999_29196014A[5]TGAGCAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAGCAGGCTC[1]	MECR	Microsatellite	not provided	GPathogenic
Select item 3022957	NM_016011.5(MECR):c.892-5T>C	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009580	NM_016011.5(MECR):c.892-8G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955886	NM_016011.5(MECR):c.892-12C>G	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984582	NM_016011.5(MECR):c.892-17C>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638586	NM_016011.5(MECR):c.891+36G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724222	NM_016011.5(MECR):c.891+14A>G	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791105	NM_016011.5(MECR):c.891+12G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992549	NM_016011.5(MECR):c.891+10G>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001174	NM_016011.5(MECR):c.891+7T>C	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790814	NM_016011.5(MECR):c.890_891del (p.Val297fs)	MECR (V221fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2782593	NM_016011.5(MECR):c.885C>T (p.Ala295=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1403673	NM_016011.5(MECR):c.877G>A (p.Val293Ile)	MECR (V243I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2875685	NM_016011.5(MECR):c.876C>T (p.Pro292=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963153	NM_016011.5(MECR):c.861dup (p.Met288fs)	MECR (M238fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3011642	NM_016011.5(MECR):c.861G>A (p.Gly287=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 374879	NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)	MECR (Y285* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 374881	NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)	MECR (Y285C +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood Onset Dystonias +2 more	GPathogenic/Likely pathogenic
Select item 2984903	NM_016011.5(MECR):c.840A>G (p.Gly280=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919436	NM_016011.5(MECR):c.838G>A (p.Gly280Arg)	MECR (G204R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191830	NM_016011.5(MECR):c.832C>T (p.Arg278Cys)	MECR (R228C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2801751	NM_016011.5(MECR):c.831-2A>G	MECR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1327883	NM_016011.5(MECR):c.830+18G>T	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 2998365	NM_016011.5(MECR):c.830+16C>T	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1916402	NM_016011.5(MECR):c.830+14G>A	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2843342	NM_016011.5(MECR):c.830+12G>C	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2911744	NM_016011.5(MECR):c.830+7C>T	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 449055	NM_016011.5(MECR):c.830+2dup	MECR	Duplication (splice donor variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 3008945	NM_016011.5(MECR):c.830+1del	MECR	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2905705	NM_016011.5(MECR):c.830+1G>A	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 781582	NM_016011.5(MECR):c.830C>T (p.Ala277Val)	MECR (A227V +4 more)	Single nucleotide variant (missense variant +1 more)	MECR-related disorder +1 more	GBenign/Likely benign
Select item 3004043	NM_016011.5(MECR):c.826T>C (p.Leu276=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2414914	NM_016011.5(MECR):c.820C>T (p.Arg274Trp)	MECR (R309W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021681	NM_016011.5(MECR):c.795T>C (p.Gly265=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008890	NM_016011.5(MECR):c.783C>T (p.Leu261=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720895	NM_016011.5(MECR):c.773G>T (p.Arg258Leu)	MECR (R293L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 374882	NM_016011.4(MECR):c.772C>T (p.Arg258Trp)	MECR (R258W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2041642	NM_016011.5(MECR):c.760A>T (p.Met254Leu)	MECR (M204L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2751625	NM_016011.5(MECR):c.757-9G>T	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988076	NM_016011.5(MECR):c.757-12G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968607	NM_016011.5(MECR):c.757-14T>C	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272929	NM_016011.5(MECR):c.757-44G>A	MECR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279332	NM_016011.5(MECR):c.757-231C>T	MECR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268202	NM_016011.5(MECR):c.756+43C>G	MECR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659735	NM_016011.5(MECR):c.756+16G>A	MECR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2849448	NM_016011.5(MECR):c.756+13A>G	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988735	NM_016011.5(MECR):c.756+12G>A	MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139243	NM_016011.5(MECR):c.756+5C>T	MECR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878974	NM_016011.5(MECR):c.735C>G (p.Pro245=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2304918	NM_016011.5(MECR):c.733C>A (p.Pro245Thr)	MECR (P195T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2723075	NM_016011.5(MECR):c.717A>G (p.Glu239=)	MECR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2737832	NM_016011.5(MECR):c.711C>T (p.Ile237=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990458	NM_016011.5(MECR):c.699T>C (p.Ala233=)	MECR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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