ClinVar for MedGen (Select 57451) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983126	NM_138420.4(AHNAK2):c.6406_6408delinsGAC (p.Gln2136Asp)	AHNAK2 (Q2036D +1 more)	Indel (missense variant)	Migraine +1 more	GUncertain significance
Select item 812745	NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	NOTCH3 (C212R)	Single nucleotide variant (missense variant)	Migraine +6 more	GPathogenic
Select item 523536	NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	MAP2K2 (K172E)	Single nucleotide variant (missense variant)	RASopathy +10 more	GUncertain significance
Select item 523431	NM_001382567.1(STIM1):c.1627T>A (p.Ser543Thr)	STIM1 (S512T +7 more)	Single nucleotide variant (missense variant +1 more)	Migraine	GUncertain significance
Select item 523370	NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)	NOTCH3 (C484G)	Single nucleotide variant (missense variant)	Migraine +3 more	GLikely pathogenic
Select item 523355	NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter)	PPOX (Y451* +4 more)	Single nucleotide variant (nonsense)	Abnormal blistering of the skin +3 more	GPathogenic
Select item 374095	NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)	SLC2A1 (Q469H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +13 more	GUncertain significance
Select item 373443	NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	LOC126859827, TAB2 (R347* +1 more)	Single nucleotide variant (nonsense)	Migraine +5 more	GPathogenic/Likely pathogenic
Select item 239175	NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)	MYH6 (R1532C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +7 more	GPathogenic/Likely pathogenic
Select item 92408	NM_000070.3(CAPN3):c.1746-20C>G	CAPN3	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44926	NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	DSP (E1740K)	Single nucleotide variant (missense variant +1 more)	DSP-related condition +12 more	GConflicting classifications of pathogenicity
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more	GPathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	Memory impairment +8 more	GPathogenic/Likely pathogenic
Select item 14149	NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	MYH6 (Q1065H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9387	NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)	SCN5A (G298S)	Single nucleotide variant (missense variant)	not specified +13 more	GUncertain significance