ClinVar for MedGen (Select 816202) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068306	NM_018341.3(ERMARD):c.1395-1G>T	ERMARD	Single nucleotide variant (splice acceptor variant)	Periventricular nodular heterotopia 6	GLikely pathogenic
Select item 2429374	NM_018341.3(ERMARD):c.277C>T (p.Arg93Ter)	ERMARD (R93*)	Single nucleotide variant (nonsense +1 more)	Periventricular nodular heterotopia 6	GLikely pathogenic
Select item 1696356	NM_018341.3(ERMARD):c.605+1G>A	ERMARD	Single nucleotide variant (splice donor variant)	Periventricular nodular heterotopia 6	GLikely pathogenic
Select item 1343259	NM_018341.3(ERMARD):c.1521-82del	ERMARD (K520fs)	Deletion (frameshift variant +1 more)	Periventricular nodular heterotopia 6	GUncertain significance
Select item 1341867	NM_018341.3(ERMARD):c.632C>T (p.Thr211Met)	ERMARD (T211M +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 6 +1 more	GUncertain significance
Select item 1334008	NM_018341.3(ERMARD):c.1781T>C (p.Leu594Pro)	ERMARD (L468P +3 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 6	GUncertain significance
Select item 1325618	NM_018341.3(ERMARD):c.1629_1636del (p.Arg544fs)	ERMARD (R418fs +1 more)	Deletion (frameshift variant +1 more)	Periventricular nodular heterotopia 6	GUncertain significance
Select item 1320115	NM_018341.3(ERMARD):c.1426del (p.His476fs)	ERMARD (H350fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 6	GLikely pathogenic
Select item 1299254	NM_018341.3(ERMARD):c.1511del (p.Pro504fs)	ERMARD (P378fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 6	GUncertain significance
Select item 1030652	NM_018341.3(ERMARD):c.1394+1G>T	ERMARD	Single nucleotide variant (splice donor variant)	Periventricular nodular heterotopia 6	GUncertain significance
Select item 977896	NM_018341.3(ERMARD):c.313G>C (p.Glu105Gln)	ERMARD (E105Q)	Single nucleotide variant (missense variant +1 more)	Periventricular nodular heterotopia 6	GLikely benign
Select item 915337	NM_018341.3(ERMARD):c.1072del (p.Asp358fs)	ERMARD (D232fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 6	GUncertain significance
Select item 384623	NM_018341.3(ERMARD):c.1060-12A>G	ERMARD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 384622	NM_018341.3(ERMARD):c.1014T>C (p.Asp338=)	ERMARD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 380785	NM_018341.3(ERMARD):c.1505G>A (p.Arg502His)	ERMARD (R502H +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 6 +2 more	GBenign
Select item 88869	NM_018341.3(ERMARD):c.1130T>A (p.Ile377Asn)	ERMARD (I251N +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 6	GPathogenic