ClinVar for MedGen (Select 1711007) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236268	NM_015355.4(SUZ12):c.1603C>T (p.Arg535Ter)	SUZ12 (R512* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GLikely pathogenic
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 2506363	NM_015355.4(SUZ12):c.1049C>T (p.Ser350Phe)	SUZ12 (S327F +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 2443324	NM_015355.4(SUZ12):c.274+5G>A	SUZ12	Single nucleotide variant (intron variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 2443323	NM_015355.4(SUZ12):c.1267C>T (p.Arg423Ter)	SUZ12 (R400* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 1705694	NM_015355.4(SUZ12):c.1132dup (p.Ala378fs)	SUZ12 (A355fs +1 more)	Duplication (frameshift variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 1686240	NM_015355.4(SUZ12):c.386+1G>A	SUZ12	Single nucleotide variant (splice donor variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 1685459	NM_015355.4(SUZ12):c.1979T>C (p.Leu660Pro)	SUZ12 (L637P +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
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 1333578	NM_015355.4(SUZ12):c.1437+1G>T	SUZ12	Single nucleotide variant (splice donor variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 1065437	NM_015355.4(SUZ12):c.1451del (p.Gly484fs)	SUZ12 (G461fs +1 more)	Deletion (frameshift variant)	Imagawa-Matsumoto syndrome +1 more	GLikely pathogenic
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	COPRS, LRRC37B +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 976749	NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter)	SUZ12 (Q530* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 812718	NM_015355.4(SUZ12):c.1960C>T (p.Arg654Ter)	SUZ12 (R654* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812717	NM_015355.4(SUZ12):c.1807T>C (p.Phe603Leu)	SUZ12 (F603L +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 812716	NM_015355.4(SUZ12):c.844_845del (p.Ala282fs)	SUZ12 (A259fs +1 more)	Deletion (frameshift variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 771495	NM_015355.4(SUZ12):c.274+8T>C	SUZ12	Single nucleotide variant (intron variant)	Imagawa-Matsumoto syndrome +1 more	GBenign/Likely benign
Select item 712743	NM_015355.4(SUZ12):c.1671T>C (p.Tyr557=)	SUZ12	Single nucleotide variant (synonymous variant)	SUZ12-related disorder +2 more	GBenign/Likely benign
Select item 590939	NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)	SUZ12 (Q599H +1 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 430647	NM_015355.4(SUZ12):c.1829A>T (p.Glu610Val)	SUZ12 (E610V +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GPathogenic

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Items: 20