ClinVar for MedGen (Select 141670) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333722	NM_001184880.2(PCDH19):c.1124A>T (p.Asp375Val)	PCDH19 (D375V)	Single nucleotide variant (missense variant)	Bilateral tonic-clonic seizure	GLikely pathogenic
Select item 1328962	NM_015267.4(CUX2):c.1640G>A (p.Gly547Glu)	CUX2 (G485E +1 more)	Single nucleotide variant (missense variant)	Bilateral tonic-clonic seizure	GBenign
Select item 1180447	NM_012479.4(YWHAG):c.89dup (p.Thr31fs)	YWHAG (T31fs)	Duplication (frameshift variant)	Bilateral tonic-clonic seizure +1 more	GPathogenic
Select item 873154	NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)	MTHFR (Y506C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 873153	NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del)	MTHFR (K572del +1 more)	Microsatellite (inframe_deletion)	Global developmental delay +4 more	GPathogenic
Select item 692156	NM_013386.5(SLC25A24):c.1273C>A (p.Leu425Met)	SLC25A24 (L406M +1 more)	Single nucleotide variant (missense variant)	Dementia +1 more	GUncertain significance
Select item 692155	NM_013386.5(SLC25A24):c.758G>C (p.Gly253Ala)	SLC25A24 (G234A +1 more)	Single nucleotide variant (missense variant)	Dementia +1 more	GLikely pathogenic
Select item 560663	NM_001330260.2(SCN8A):c.5558A>C (p.Lys1853Thr)	SCN8A (K1853T +1 more)	Single nucleotide variant (missense variant)	Bilateral tonic-clonic seizure	GUncertain significance
Select item 560652	NM_001184880.2(PCDH19):c.490dup (p.Gln164fs)	PCDH19 (Q164fs)	Duplication (frameshift variant)	Bilateral tonic-clonic seizure	GLikely pathogenic
Select item 523479	NM_005097.4(LGI1):c.470A>T (p.Asp157Val)	LGI1 (D157V +1 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 268023	46;X;t(X;21)(q26.1;q21.22)dn		Translocation	Camptodactyly of finger +15 more	GUncertain significance
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 206353	NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	PCDH19 (Y366fs)	Duplication (frameshift variant)	Hand tremor +12 more	GPathogenic
Select item 206115	NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)	MBD5 (Q993H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139308	NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +5 more	GConflicting classifications of pathogenicity
Select item 68616	NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	LOC102724058, SCN1A (T1163S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy +10 more	GConflicting classifications of pathogenicity
Select item 39787	NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	EARS2 (R108W)	Single nucleotide variant (missense variant +1 more)	See cases +12 more	GPathogenic/Likely pathogenic