ClinVar for OMIM (Select 601241) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 428570	NM_181672.3(OGT):c.762G>T (p.Leu254Phe)	OGT (L254F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 266127	NM_001273.5(CHD4):c.3518G>T (p.Arg1173Leu)	CHD4 (R1173L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 266126	NM_001273.5(CHD4):c.3380G>A (p.Arg1127Gln)	CHD4 (R1127Q +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 12275	UGT1A1*28	UGT1A3, UGT1A4 +8 more	Microsatellite (intron variant)	Irinotecan response +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 11573	NM_001551.3(IGBP1):c.-57_-55delinsAA	IGBP1, LOC130068396	Indel (5 prime UTR variant +1 more)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GPathogenic
Select item 6982	NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe)	TGIF1 (S162F +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 6981	NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)	TGIF1 (T151A +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign

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