Related gene-specific medical variations for Gene (Select 23512) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065890	NM_015355.4(SUZ12):c.920G>A (p.Arg307His)	SUZ12 (R284H +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 2647655	NM_001321350.2(LRRC37B):c.-681C>T	LOC130060672, LRRC37B +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2647654	NC_000017.11:g.32006701G>A	SUZ12	Single nucleotide variant	not provided	GLikely benign
Select item 2647653	NC_000017.11:g.32006625G>A	SUZ12	Single nucleotide variant	not provided	GBenign
Select item 1675668	NC_000017.11:g.32006682G>C	SUZ12	Single nucleotide variant	not provided	GBenign
Select item 1342636	NM_015355.4(SUZ12):c.1938A>C (p.Lys646Asn)	SUZ12 (K623N +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 977393	NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala)	SUZ12 (T389A +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance

ClinVar