"SCN3A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498232	NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=)	SCN3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 412600	NM_006922.4(SCN3A):c.5859C>T (p.Ser1953=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GBenign
Select item 412605	NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 240713	NM_006922.4(SCN3A):c.5407G>A (p.Asp1803Asn)	SCN3A (D1803N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2884408	NM_006922.4(SCN3A):c.5406C>T (p.Pro1802=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632188	NM_006922.4(SCN3A):c.5191_5192delinsGA (p.Ile1731Asp)	SCN3A (I1682D +1 more)	Indel (missense variant)	SCN3A-related disorder	GUncertain significance
Select item 2632270	NM_006922.4(SCN3A):c.5189C>A (p.Thr1730Lys)	SCN3A (T1681K +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder	GUncertain significance
Select item 999332	NM_006922.4(SCN3A):c.5165C>G (p.Ala1722Gly)	SCN3A (A1673G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 699414	NM_006922.4(SCN3A):c.5037T>C (p.Tyr1679=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 240712	NM_006922.4(SCN3A):c.4878C>T (p.Ala1626=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 240711	NM_006922.4(SCN3A):c.4807+7A>G	SCN3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2636555	NM_006922.4(SCN3A):c.4679G>C (p.Arg1560Pro)	SCN3A (R1511P +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder	GUncertain significance
Select item 1046111	NM_006922.4(SCN3A):c.4631T>C (p.Met1544Thr)	SCN3A (M1544T +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder +1 more	GUncertain significance
Select item 1064520	NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser)	SCN3A (A1356S +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder	GUncertain significance
Select item 937274	NM_006922.4(SCN3A):c.4213G>A (p.Ala1405Thr)	SCN3A (A1356T +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder +1 more	GLikely benign
Select item 195684	NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 950485	NM_006922.4(SCN3A):c.3525A>C (p.Lys1175Asn)	SCN3A (K1126N +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder +1 more	GUncertain significance
Select item 3046720	NM_006922.4(SCN3A):c.3402T>C (p.Asn1134=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder	GLikely benign
Select item 726317	NM_006922.4(SCN3A):c.3320T>C (p.Val1107Ala)	SCN3A (V1058A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2629102	NM_006922.4(SCN3A):c.2746A>C (p.Asn916His)	SCN3A (N867H +1 more)	Single nucleotide variant (missense variant)	SCN3A-related disorder	GUncertain significance
Select item 1651839	NM_006922.4(SCN3A):c.2622C>A (p.Ile874=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1537545	NM_006922.4(SCN3A):c.2520T>C (p.Gly840=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GLikely benign
Select item 547844	NM_006922.4(SCN3A):c.2077A>G (p.Met693Val)	SCN3A (M693V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2631802	NM_006922.4(SCN3A):c.1737T>A (p.Ser579Arg)	SCN3A (S579R)	Single nucleotide variant (missense variant)	SCN3A-related disorder	GUncertain significance
Select item 1087702	NM_006922.4(SCN3A):c.1734C>T (p.Phe578=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GLikely benign
Select item 1161891	NM_006922.4(SCN3A):c.1662C>T (p.Ser554=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GLikely benign
Select item 194080	NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe)	SCN3A (S540F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 724875	NM_006922.4(SCN3A):c.1602A>C (p.Arg534Ser)	SCN3A (R534S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 664897	NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg)	SCN3A (Q508R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 700356	NM_006922.4(SCN3A):c.1389G>A (p.Ala463=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GLikely benign
Select item 282139	NM_006922.4(SCN3A):c.1381-4A>G	SCN3A	Single nucleotide variant (intron variant)	SCN3A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1013869	NM_006922.4(SCN3A):c.847A>G (p.Ser283Gly)	SCN3A (S283G)	Single nucleotide variant (missense variant)	SCN3A-related disorder +2 more	GUncertain significance
Select item 1597888	NM_006922.4(SCN3A):c.695-4G>A	SCN3A	Single nucleotide variant (intron variant)	SCN3A-related disorder +1 more	GLikely benign
Select item 2629779	NM_006922.4(SCN3A):c.603-102G>A	SCN3A (V229I)	Single nucleotide variant (missense variant +1 more)	SCN3A-related disorder	GUncertain significance
Select item 2193126	NM_006922.4(SCN3A):c.364A>G (p.Ile122Val)	SCN3A (I122V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2631694	NM_006922.4(SCN3A):c.301C>T (p.Arg101Ter)	SCN3A (R101*)	Single nucleotide variant (nonsense)	SCN3A-related disorder	GUncertain significance
Select item 1302697	NM_006922.4(SCN3A):c.217G>A (p.Val73Met)	SCN3A (V73M)	Single nucleotide variant (missense variant)	SCN3A-related disorder +1 more	GUncertain significance
Select item 1013417	NM_006922.4(SCN3A):c.207T>A (p.Pro69=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related disorder +1 more	GBenign/Likely benign
Select item 196445	NM_006922.4(SCN3A):c.171T>C (p.Ala57=)	SCN3A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 767484	NM_006922.4(SCN3A):c.75C>T (p.Ile25=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2435696	NM_006922.4(SCN3A):c.43C>T (p.Arg15Cys)	SCN3A (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354314	NM_006922.4(SCN3A):c.22C>T (p.Pro8Ser)	SCN3A (P8S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 42