ClinVar for MedGen (Select 358387) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339746	NM_001110556.2(FLNA):c.5997_6022+1dup	FLNA	Duplication (splice donor variant)	Periventricular nodular heterotopia	GLikely pathogenic
Select item 1761872	NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)	BRCA1 (L227* +19 more)	Single nucleotide variant (nonsense +2 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 1334403	NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	ATP2B1 (V793L +2 more)	Single nucleotide variant (missense variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1334402	NM_001366521.1(ATP2B1):c.3060+2T>G	ATP2B1	Single nucleotide variant (splice donor variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1077130	NM_001110556.2(FLNA):c.373G>A (p.Asp125Asn)	FLNA (D125N)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia	GLikely pathogenic
Select item 800722	NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)	MAP1B (R1538* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 800721	NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)	MAP1B (E1032* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9 +5 more	GPathogenic; risk factor
Select item 800720	NM_005909.5(MAP1B):c.2134del (p.Glu712fs)	MAP1B (E586fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 9 +4 more	GPathogenic; risk factor
Select item 632584	NM_001387994.1(BAG6):c.3415C>T (p.Arg1139Ter)	BAG6 (R1103* +23 more)	Single nucleotide variant (nonsense)	Isolated unilateral hemispheric cerebellar hypoplasia +2 more	GUncertain significance
Select item 548635	NM_005909.5(MAP1B):c.819del (p.Leu274fs)	MAP1B (L274fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia	GLikely pathogenic
Select item 548634	NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)	MAP1B (R1106* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9	GUncertain significance
Select item 548633	NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter)	LOC129994023, MAP1B (Q532* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9 +1 more	GPathogenic/Likely pathogenic
Select item 548632	NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)	MAP1B (R303* +1 more)	Single nucleotide variant (nonsense)	MAP1B-related disorder +2 more	GPathogenic/Likely pathogenic