C2930980[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 229

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161208	NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	CACNA1S (T1354S)	Single nucleotide variant (missense variant)	CACNA1S-related condition +4 more	GConflicting classifications of pathogenicity
Select item 133045	NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	RYR1 (R44C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 256470	NM_000540.3(RYR1):c.216G>T (p.Leu72=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 2742517	NM_000540.3(RYR1):c.318C>A (p.Ile106=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 499535	NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	RYR1 (T148I)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 872067	NM_000540.3(RYR1):c.546G>A (p.Ser182=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GLikely benign
Select item 133152	NM_000540.3(RYR1):c.573C>T (p.Asp191=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign/Likely benign
Select item 93277	NM_000540.3(RYR1):c.594A>G (p.Leu198=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GBenign/Likely benign
Select item 478246	NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)	RYR1 (C205S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 167614	NM_000540.3(RYR1):c.641C>T (p.Thr214Met)	RYR1 (T214M)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 218467	NM_000540.3(RYR1):c.725+6G>A	RYR1	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2037437	NM_000540.3(RYR1):c.858C>T (p.Thr286=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +1 more	GLikely benign
Select item 847164	NM_000540.3(RYR1):c.907G>A (p.Ala303Thr)	RYR1 (A303T)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 256586	NM_000540.3(RYR1):c.958-11del	RYR1	Deletion (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 12969	NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	RYR1 (G341R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 93243	NM_000540.3(RYR1):c.1077T>C (p.Ala359=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 133010	NM_000540.3(RYR1):c.1123-11C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 133029	NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	RYR1 (R401C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 133034	NM_000540.3(RYR1):c.1218C>T (p.Thr406=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 2435514	NM_000540.3(RYR1):c.1263C>A (p.Ser421Arg)	RYR1 (S421R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 654450	NM_000540.3(RYR1):c.1318G>A (p.Val440Ile)	RYR1 (V440I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 1052099	NM_000540.3(RYR1):c.1440G>A (p.Glu480=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 159838	NM_000540.3(RYR1):c.1577-6C>G	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +8 more	GBenign/Likely benign
Select item 872071	NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)	RYR1 (R552Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93258	NM_000540.3(RYR1):c.1668G>A (p.Ser556=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 256465	NM_000540.3(RYR1):c.1923C>G (p.Thr641=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +10 more	GBenign/Likely benign
Select item 1017749	NM_000540.3(RYR1):c.1943T>C (p.Phe648Ser)	RYR1 (F648S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 256468	NM_000540.3(RYR1):c.2004C>T (p.Asp668=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 159839	NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 133111	NM_000540.3(RYR1):c.2121C>A (p.Gly707=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 159840	NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	RYR1 (D708N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133114	NM_000540.3(RYR1):c.2223C>T (p.Asp741=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GBenign/Likely benign
Select item 1544666	NM_000540.3(RYR1):c.2251G>A (p.Val751Met)	RYR1 (V751M)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 161369	NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	RYR1 (N759D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +9 more	GConflicting classifications of pathogenicity
Select item 93259	NM_000540.3(RYR1):c.2286C>T (p.Pro762=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 2774211	NM_000540.3(RYR1):c.2361-3C>T	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 478213	NM_000540.3(RYR1):c.2447C>T (p.Pro816Leu)	RYR1 (P816L)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely benign FDA Recognized database
Select item 161363	NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)	RYR1 (A933T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 224377	NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)	RYR1 (A941V)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 2774212	NM_000540.3(RYR1):c.2830A>T (p.Lys944Ter)	RYR1 (K944*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 329001	NM_000540.3(RYR1):c.2835G>A (p.Ala945=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 329002	NM_000540.3(RYR1):c.2844C>T (p.Asn948=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +4 more	GConflicting classifications of pathogenicity
Select item 93260	NM_000540.3(RYR1):c.2871-5C>T	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +6 more	GBenign
Select item 159842	NM_000540.3(RYR1):c.2919C>T (p.His973=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 93261	NM_000540.3(RYR1):c.2943G>A (p.Thr981=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 161367	NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	RYR1 (R986C)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 93262	NM_000540.3(RYR1):c.2979C>T (p.Asn993=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 374974	NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)	RYR1 (R1032H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 256488	NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 500206	NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp)	RYR1 (R1070W)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 329009	NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)	RYR1 (R1127C)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +8 more	GUncertain significance
Select item 256491	NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 1459312	NM_000540.3(RYR1):c.3424del (p.Trp1142fs)	RYR1 (W1142fs)	Deletion (frameshift variant)	RYR1-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 93263	NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 590516	NM_000540.3(RYR1):c.3495C>T (p.Gly1165=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GUncertain significance
Select item 329012	NM_000540.3(RYR1):c.3557-6C>T	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 390799	NM_000540.3(RYR1):c.3618C>T (p.Asp1206=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 93264	NM_000540.3(RYR1):c.3858T>C (p.Leu1286=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 159845	NM_000540.3(RYR1):c.3876C>A (p.Leu1292=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign/Likely benign
Select item 256500	NM_000540.3(RYR1):c.3972G>A (p.Ala1324=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 93265	NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly)	RYR1 (S1342G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 159846	NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly)	RYR1 (A1352G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 93267	NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GBenign
Select item 374135	NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	RYR1 (A1372V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 93268	NM_000540.3(RYR1):c.4161-6T>C	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +5 more	GBenign
Select item 93269	NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	RYR1 (K1393R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 329023	NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 256506	NM_000540.3(RYR1):c.4294-4C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 93270	NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +8 more	GBenign/Likely benign
Select item 159851	NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	RYR1 (I1571V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 1487112	NM_000540.3(RYR1):c.4743C>T (p.Ser1581=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 256518	NM_000540.3(RYR1):c.4758G>A (p.Pro1586=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related condition +6 more	GBenign/Likely benign
Select item 590544	NM_000540.3(RYR1):c.4848G>A (p.Thr1616=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GLikely benign
Select item 1513075	NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)	RYR1 (R1618H)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GUncertain significance
Select item 256524	NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 224380	NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	RYR1 (R1667C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 161364	NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)	RYR1 (R1679H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 256526	NM_000540.3(RYR1):c.5046C>T (p.His1682=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 93271	NM_000540.3(RYR1):c.5112C>T (p.Gly1704=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 2774214	NM_000540.3(RYR1):c.5176C>T (p.Arg1726Cys)	RYR1 (R1726C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 2774215	NM_000540.3(RYR1):c.5193T>C (p.Ser1731=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 224382	NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)	RYR1 (P1773S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 93273	NM_000540.3(RYR1):c.5334G>T (p.Ser1778=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 133149	NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)	RYR1 (P1787L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 196882	NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 387568	NM_000540.3(RYR1):c.5439G>A (p.Arg1813=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GLikely benign
Select item 93274	NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +6 more	GBenign/Likely benign
Select item 159853	NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign/Likely benign
Select item 1559848	NM_000540.3(RYR1):c.5934C>T (p.Gly1978=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +1 more	GLikely benign
Select item 93278	NM_000540.3(RYR1):c.6039A>G (p.Lys2013=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +5 more	GBenign
Select item 2774216	NM_000540.3(RYR1):c.6126_6127del (p.Cys2042fs)	RYR1 (C2042fs)	Microsatellite (frameshift variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 256530	NM_000540.3(RYR1):c.6127+3A>G	RYR1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 2774217	NM_000540.3(RYR1):c.6171C>T (p.Thr2057=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 93279	NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)	RYR1 (G2060C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 478247	NM_000540.3(RYR1):c.6192G>A (p.Met2064Ile)	RYR1 (M2064I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 2774218	NM_000540.3(RYR1):c.6194G>A (p.Ser2065Asn)	RYR1 (S2065N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 329050	NM_000540.3(RYR1):c.6387C>T (p.Asp2129=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +2 more	GBenign/Likely benign
Select item 197057	NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign/Likely benign
Select item 12977	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	RYR1 (T2206M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database

<< First< Prev

Page of 3