Related gene-specific medical variations for Gene (Select 5000) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247509	NC_000002.11:g.(?_148709922)_(148710113_?)del	ORC4	Deletion	not provided	GPathogenic
Select item 2651403	NM_001378120.1(MBD5):c.-1112_-1111insGTT	MBD5, ORC4	Insertion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651402	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[1]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651401	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[3]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2434515	NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)	ORC4 (R205Q +2 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 2	GUncertain significance
Select item 517739	NM_018328.5(MBD5):c.-973G>A	MBD5, ORC4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 403690	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403686	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 381693	NM_018328.5(MBD5):c.-974A>G	MBD5, ORC4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 381112	NM_018328.5(MBD5):c.-962+16C>T	ORC4, MBD5	Single nucleotide variant (intron variant)	not specified	GLikely benign