"Rajkovic Lab, University of Pittsburgh"[submitter] AND "MED12"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92199	NM_005120.3(MED12):c.100-8T>A	MED12	Single nucleotide variant (intron variant)	Uterine leiomyoma	Gnot provided
Select item 92197	NM_005120.3(MED12):c.100-1_139del	MED12	Deletion (splice acceptor variant)	Uterine leiomyoma	Gnot provided
Select item 92198	NM_005120.3(MED12):c.100_141del (p.Asp34_Asn47del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92200	NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92202	NM_005120.3(MED12):c.107_111delinsGC (p.Leu36_Thr37delinsArg)	MED12	Indel (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92201	NM_005120.3(MED12):c.107T>G (p.Leu36Arg)	MED12 (L36R)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92203	NM_005120.3(MED12):c.111_155del (p.Ala38_Ser52del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92204	NM_005120.3(MED12):c.113_121del (p.Ala38_Asn40del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92205	NM_005120.3(MED12):c.117_122del (p.Asn40_Val41del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92208	NM_005120.3(MED12):c.118_146delinsTT (p.Asn40_Pro49delinsPhe)	MED12	Indel (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92207	NM_005120.3(MED12):c.118_134delinsTA (p.Asn40_Phe45delinsTyr)	MED12	Indel (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92206	NM_005120.3(MED12):c.118_132del (p.Asn40_Gly44del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92210	NM_005120.3(MED12):c.122_163del (p.Val41_Asp54del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92211	NM_005120.3(MED12):c.123_152del (p.Lys42_Val51del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92209	NM_005120.3(MED12):c.122_148del (p.Val41_Pro49del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92213	NM_005120.3(MED12):c.126_140del (p.Lys42_Asn46del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92212	NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn)	MED12	Deletion (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92216	NM_005120.3(MED12):c.129_143del (p.Gly44_Gln48del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92215	NM_005120.3(MED12):c.129_137del (p.Gln43_Asn46delinsHis)	MED12	Deletion (inframe_indel)	Uterine leiomyoma	Gnot provided
Select item 92214	NM_005120.3(MED12):c.128A>C (p.Gln43Pro)	MED12 (Q43P)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92219	NM_005120.3(MED12):c.130G>T (p.Gly44Cys)	MED12 (G44C)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92218	NM_005120.3(MED12):c.130G>C (p.Gly44Arg)	MED12 (G44R)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92217	NM_005120.3(MED12):c.130G>A (p.Gly44Ser)	MED12 (G44S)	Single nucleotide variant (missense variant)	Angiosarcoma	Gother
Select item 92222	NM_005120.3(MED12):c.131G>T (p.Gly44Val)	MED12 (G44V)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92221	NM_005120.3(MED12):c.131G>C (p.Gly44Ala)	MED12 (G44A)	Single nucleotide variant (missense variant)	Uterine leiomyoma	Gnot provided
Select item 92220	NM_005120.3(MED12):c.131G>A (p.Gly44Asp)	MED12 (G44D)	Single nucleotide variant (missense variant)	Nephroblastoma	Gother
Select item 92223	NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided
Select item 92224	NM_005120.3(MED12):c.149_163del (p.Ala50_Asp54del)	MED12	Deletion (inframe_deletion)	Uterine leiomyoma	Gnot provided

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Items: 28