"SCN10A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95405	NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)	SCN10A (A1886V +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +4 more	GBenign/Likely benign
Select item 3054423	NM_006514.4(SCN10A):c.5460T>C (p.Ser1820=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder	GLikely benign
Select item 696364	NM_006514.4(SCN10A):c.5370G>T (p.Leu1790=)	SCN10A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 854530	NM_006514.4(SCN10A):c.4783A>G (p.Thr1595Ala)	SCN10A (T1595A +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 516029	NM_006514.4(SCN10A):c.4694G>A (p.Ser1565Asn)	SCN10A (S1565N +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 699619	NM_006514.4(SCN10A):c.4680T>G (p.Leu1560=)	SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 220789	NM_006514.4(SCN10A):c.4568G>A (p.Cys1523Tyr)	SCN10A (C1523Y +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 414625	NM_006514.4(SCN10A):c.4379G>A (p.Arg1460Gln)	SCN10A (R1460Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 240674	NM_006514.4(SCN10A):c.4378C>T (p.Arg1460Trp)	SCN10A (R1460W +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 695744	NM_006514.4(SCN10A):c.4212T>C (p.Phe1404=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +2 more	GLikely benign
Select item 235224	NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr)	SCN10A (S1337T +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 698067	NM_006514.4(SCN10A):c.3887G>T (p.Ser1296Ile)	SCN10A (S1198I +2 more)	Single nucleotide variant (missense variant)	SCN10A-related disorder +2 more	GLikely benign
Select item 95402	NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)	SCN10A (V1287I +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1153531	NM_006514.4(SCN10A):c.3858C>T (p.Leu1286=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +2 more	GLikely benign
Select item 699643	NM_006514.4(SCN10A):c.3822G>A (p.Leu1274=)	SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 940294	NM_006514.4(SCN10A):c.3804+6del	SCN10A	Deletion (intron variant)	SCN10A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 706260	NM_006514.4(SCN10A):c.3796G>A (p.Gly1266Ser)	SCN10A (G1168S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3048913	NM_006514.4(SCN10A):c.3768dup (p.Pro1257fs)	SCN10A (P1159fs +2 more)	Duplication (frameshift variant)	SCN10A-related disorder	GUncertain significance
Select item 2906670	NM_006514.4(SCN10A):c.3732T>A (p.Ala1244=)	SCN10A	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 463250	NM_006514.4(SCN10A):c.3681+9C>T	SCN10A	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 445871	NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr)	SCN10A (I1225T +2 more)	Single nucleotide variant (missense variant)	SCN10A-related disorder +5 more	GBenign/Likely benign
Select item 1732709	NM_006514.4(SCN10A):c.3561G>A (p.Glu1187=)	SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 240670	NM_006514.4(SCN10A):c.3542C>T (p.Thr1181Met)	SCN10A (T1181M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 3046912	NM_006514.4(SCN10A):c.3507+6G>A	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	SCN10A-related disorder	GLikely benign
Select item 1034930	NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln)	LOC110121288, SCN10A (K1034Q +2 more)	Single nucleotide variant (missense variant)	SCN10A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3030262	NM_006514.4(SCN10A):c.3353-5C>T	LOC110121288, SCN10A	Single nucleotide variant (intron variant)	SCN10A-related disorder	GLikely benign
Select item 240664	NM_006514.4(SCN10A):c.2475A>C (p.Glu825Asp)	SCN10A (E825D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 696877	NM_006514.4(SCN10A):c.2043C>T (p.Phe681=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +2 more	GBenign/Likely benign
Select item 391119	NM_006514.4(SCN10A):c.1949T>A (p.Met650Lys)	SCN10A (M650K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome +3 more	GBenign/Likely benign
Select item 932387	NM_006514.4(SCN10A):c.1890G>A (p.Lys630=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 463235	NM_006514.4(SCN10A):c.1768G>A (p.Gly590Arg)	SCN10A (G590R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 414626	NM_006514.4(SCN10A):c.1713G>A (p.Pro571=)	SCN10A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 700351	NM_006514.4(SCN10A):c.1409C>A (p.Ser470Tyr)	SCN10A (S470Y)	Single nucleotide variant (missense variant)	SCN10A-related disorder +2 more	GLikely benign
Select item 512636	NM_006514.4(SCN10A):c.1266C>T (p.Leu422=)	SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 414629	NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile)	SCN10A (V380I)	Single nucleotide variant (missense variant)	SCN10A-related disorder +4 more	GLikely benign
Select item 2629101	NM_006514.4(SCN10A):c.1078C>G (p.Arg360Gly)	SCN10A (R360G)	Single nucleotide variant (missense variant)	SCN10A-related disorder	GUncertain significance
Select item 414621	NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)	SCN10A (E285K)	Single nucleotide variant (missense variant)	SCN10A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1761276	NM_006514.4(SCN10A):c.792G>A (p.Gly264=)	SCN10A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 700397	NM_006514.4(SCN10A):c.692-4G>A	SCN10A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 463271	NM_006514.4(SCN10A):c.688C>G (p.Pro230Ala)	SCN10A (P230A)	Single nucleotide variant (missense variant)	Brugada syndrome +2 more	GUncertain significance
Select item 514642	NM_006514.4(SCN10A):c.612A>G (p.Thr204=)	SCN10A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 508026	NM_006514.4(SCN10A):c.609C>A (p.Gly203=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +3 more	GLikely benign
Select item 414632	NM_006514.4(SCN10A):c.549G>A (p.Thr183=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +2 more	GLikely benign
Select item 2628990	NM_006514.4(SCN10A):c.460G>T (p.Glu154Ter)	SCN10A (E154*)	Single nucleotide variant (nonsense)	SCN10A-related disorder	GUncertain significance
Select item 1130397	NM_006514.4(SCN10A):c.406A>G (p.Ile136Val)	SCN10A (I136V)	Single nucleotide variant (missense variant)	SCN10A-related disorder +2 more	GLikely benign
Select item 532161	NM_006514.4(SCN10A):c.390-9G>A	SCN10A	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GBenign/Likely benign
Select item 702063	NM_006514.4(SCN10A):c.285G>T (p.Leu95=)	SCN10A	Single nucleotide variant (synonymous variant)	SCN10A-related disorder +2 more	GBenign/Likely benign
Select item 800188	NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)	SCN10A (C60Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 48