ClinVar for MedGen (Select 43787) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047867	GRCh37/hg19 16p13.3(chr16:3784414-3821324)	CREBBP	Copy number loss	Corpus callosum, agenesis of +4 more	GPathogenic
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Rigidity +17 more	GPathogenic
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Hypotonia +7 more	GUncertain significance
Select item 374179	NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)	ARID1B (Q538* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 374133	NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs)	ARID1B (L439fs +3 more)	Deletion (frameshift variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 373928	NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg)	KCNJ11 (T62R)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemia +3 more	GLikely pathogenic
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	dystrophia +14 more	GPathogenic
Select item 1564	NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)	NAGLU (S169fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-B +10 more	GPathogenic

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