ClinVar for MedGen (Select 371441) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019857	NM_004320.6(ATP2A1):c.2940C>T (p.Leu980=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 3018945	NM_004320.6(ATP2A1):c.2525-20C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 3018558	NM_004320.6(ATP2A1):c.2610+8G>A	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 3016794	NM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer)	ATP2A1	Microsatellite (nonsense)	Brody myopathy	GPathogenic
Select item 3013541	NM_004320.6(ATP2A1):c.1344G>A (p.Leu448=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 3013289	NM_004320.6(ATP2A1):c.219+5G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 3009643	NM_004320.6(ATP2A1):c.1712del (p.Pro571fs)	ATP2A1 (P446fs +1 more)	Deletion (frameshift variant)	Brody myopathy	GPathogenic
Select item 3003178	NM_004320.6(ATP2A1):c.972T>C (p.Arg324=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 3001177	NM_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter)	ATP2A1 (R364* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 2997190	NM_004320.6(ATP2A1):c.1420-17C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2993320	NM_004320.6(ATP2A1):c.631-12T>C	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2990658	NM_004320.6(ATP2A1):c.463+16G>C	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2968178	NM_004320.6(ATP2A1):c.630+20C>G	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2966774	NM_004320.6(ATP2A1):c.2073G>A (p.Leu691=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2962735	NM_004320.6(ATP2A1):c.2490T>C (p.Ser830=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2959177	NM_004320.6(ATP2A1):c.137-7C>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2920347	NM_004320.6(ATP2A1):c.2820C>T (p.Ser940=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2918220	NM_004320.6(ATP2A1):c.333C>T (p.Asn111=)	ATP2A1	Single nucleotide variant (5 prime UTR variant +1 more)	ATP2A1-related condition +1 more	GLikely benign
Select item 2912912	NM_004320.6(ATP2A1):c.2745-15C>A	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2911954	NM_004320.6(ATP2A1):c.928+18T>C	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2893746	NM_004320.6(ATP2A1):c.1050C>G (p.Ser350=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2891525	NM_004320.6(ATP2A1):c.1419+20G>A	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2883890	NM_004320.6(ATP2A1):c.1699C>A (p.Arg567=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2868778	NM_004320.6(ATP2A1):c.381G>C (p.Gly127=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2867270	NM_004320.6(ATP2A1):c.2862+16C>A	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2862685	NM_004320.6(ATP2A1):c.735C>T (p.Asp245=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2854775	NM_004320.6(ATP2A1):c.2100+15del	ATP2A1	Deletion (intron variant)	Brody myopathy	GLikely benign
Select item 2854328	NM_004320.6(ATP2A1):c.294C>T (p.Leu98=)	ATP2A1	Single nucleotide variant (synonymous variant +1 more)	Brody myopathy	GLikely benign
Select item 2844744	NM_004320.6(ATP2A1):c.544+12T>G	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2840567	NM_004320.6(ATP2A1):c.1183G>T (p.Val395Phe)	ATP2A1 (V270F +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2835707	NM_004320.6(ATP2A1):c.2525-1G>A	ATP2A1	Single nucleotide variant (splice acceptor variant)	Brody myopathy	GLikely pathogenic
Select item 2835081	NM_004320.6(ATP2A1):c.1470C>T (p.Asp490=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2804731	NM_004320.6(ATP2A1):c.1096-10T>C	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2793765	NM_004320.6(ATP2A1):c.6G>A (p.Glu2=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2779794	NM_004320.6(ATP2A1):c.1695C>A (p.Ala565=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2779793	NM_004320.6(ATP2A1):c.1686G>A (p.Leu562=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2768751	NM_004320.6(ATP2A1):c.1587A>T (p.Arg529=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2754883	NM_004320.6(ATP2A1):c.2745-17C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2748911	NM_004320.6(ATP2A1):c.1712dup (p.Lys572fs)	ATP2A1 (K447fs +1 more)	Duplication (frameshift variant)	Brody myopathy	GPathogenic
Select item 2742492	NM_004320.6(ATP2A1):c.1095+13G>A	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2729564	NM_004320.6(ATP2A1):c.2075A>G (p.Gln692Arg)	ATP2A1 (Q567R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2729018	NM_004320.6(ATP2A1):c.119-16T>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2726757	NM_004320.6(ATP2A1):c.2524+1G>A	ATP2A1	Single nucleotide variant (splice donor variant)	Brody myopathy	GLikely pathogenic
Select item 2721904	NM_004320.6(ATP2A1):c.1287+16C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2717603	NM_004320.6(ATP2A1):c.2401G>A (p.Gly801Arg)	ATP2A1 (G801R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2715948	NM_004320.6(ATP2A1):c.2101-15CTC[2]	ATP2A1	Microsatellite (intron variant)	Brody myopathy	GLikely benign
Select item 2714806	NM_004320.6(ATP2A1):c.1184+20T>C	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2708230	NM_004320.6(ATP2A1):c.325-20C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2703530	NM_004320.6(ATP2A1):c.2862+14C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2701793	NM_004320.6(ATP2A1):c.144C>G (p.Thr48=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2696860	NM_004320.6(ATP2A1):c.2702T>C (p.Leu901Pro)	ATP2A1 (L901P +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2688643	NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)	ATP2A1 (G625S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2688642	NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)	ATP2A1 (R174W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2688641	NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)	ATP2A1, ATP2A1-AS1 (V62G)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 2439375	NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)	ATP2A1 (E521Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439374	NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)	ATP2A1 (K480E +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439373	NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)	ATP2A1 (A583T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439372	NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)	ATP2A1 (M421V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439371	NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 2439369	NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)	ATP2A1 (Q352R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439368	NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr)	ATP2A1 (P686T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439367	NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)	ATP2A1 (A224G +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439366	NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)	ATP2A1 (R431Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439365	NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)	ATP2A1 (D226N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439364	NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)	ATP2A1 (Y528H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439363	NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)	ATP2A1 (R200W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439362	NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)	ATP2A1 (F468Y +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439361	NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)	ATP2A1 (I139V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439360	NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)	ATP2A1 (V146I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439359	NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser)	ATP2A1 (G217S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439358	NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)	ATP2A1 (Q119K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439356	NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)	ATP2A1 (L434P +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439355	NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)	ATP2A1 (G384D +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439354	NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)	ATP2A1 (V185A +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439353	NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)	ATP2A1 (G161S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439352	NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)	ATP2A1 (P702L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439351	NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)	ATP2A1 (R546Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439349	NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)	ATP2A1 (I650L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439348	NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)	ATP2A1 (G211V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439347	NM_004320.6(ATP2A1):c.401G>A (p.Arg134His)	ATP2A1 (R134H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2421879	NM_004320.6(ATP2A1):c.2611-15G>A	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2421035	NM_004320.6(ATP2A1):c.242G>A (p.Gly81Asp)	ATP2A1 (G81D)	Single nucleotide variant (5 prime UTR variant +1 more)	Brody myopathy	GUncertain significance
Select item 2413387	NM_004320.6(ATP2A1):c.137-19C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2213510	NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val)	ATP2A1 (I188V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 2202618	NM_004320.6(ATP2A1):c.219+20_219+21del	ATP2A1, ATP2A1-AS1	Deletion (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2198592	NM_004320.6(ATP2A1):c.2487C>T (p.Ile829=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2196076	NM_004320.6(ATP2A1):c.1287+20C>G	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2195261	NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr)	ATP2A1 (I244T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2194281	NM_004320.6(ATP2A1):c.2321+9C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2186871	NM_004320.6(ATP2A1):c.2464C>T (p.Arg822Trp)	ATP2A1 (R822W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2186000	NM_004320.6(ATP2A1):c.819T>G (p.Leu273=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2185676	NM_004320.6(ATP2A1):c.44A>G (p.Tyr15Cys)	ATP2A1 (Y15C)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2185176	NM_004320.6(ATP2A1):c.1643T>C (p.Val548Ala)	ATP2A1 (V423A +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2183507	NM_004320.6(ATP2A1):c.827T>C (p.Ile276Thr)	ATP2A1 (I151T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2178398	NM_004320.6(ATP2A1):c.9C>T (p.Ala3=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 2178029	NM_004320.6(ATP2A1):c.2176G>A (p.Val726Met)	ATP2A1 (V601M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2176957	NM_004320.6(ATP2A1):c.547G>A (p.Glu183Lys)	ATP2A1 (E58K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2175855	NM_004320.6(ATP2A1):c.1130_1131delinsTT (p.Cys377Phe)	ATP2A1 (C252F +1 more)	Indel (missense variant)	Brody myopathy	GUncertain significance
Select item 2175463	NM_004320.6(ATP2A1):c.2507G>A (p.Arg836His)	ATP2A1 (R711H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2174417	NM_004320.6(ATP2A1):c.464-5C>T	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign

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