"Eurofins Ntd Llc (ga)"[submitter] AND "MED12"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595822	NM_005120.3(MED12):c.369C>T (p.Thr123=)	MED12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196405	NM_005120.3(MED12):c.381G>A (p.Thr127=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 378127	NM_005120.3(MED12):c.384A>G (p.Gln128=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 167282	NM_005120.3(MED12):c.438A>G (p.Leu146=)	MED12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 197770	NM_005120.3(MED12):c.653C>T (p.Thr218Met)	MED12 (T218M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 95257	NM_005120.3(MED12):c.736-8A>C	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +5 more	GBenign
Select item 213632	NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	MED12 (R422W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 213621	NM_005120.3(MED12):c.1386G>T (p.Val462=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 593884	NM_005120.3(MED12):c.1416C>T (p.Asp472=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498668	NM_005120.3(MED12):c.2613G>A (p.Gln871=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95246	NM_005120.3(MED12):c.2849+14C>T	MED12	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 167283	NM_005120.3(MED12):c.2886C>T (p.Ser962=)	MED12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 167284	NM_005120.3(MED12):c.3204C>T (p.Pro1068=)	MED12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 498671	NM_005120.3(MED12):c.3219C>T (p.Asp1073=)	MED12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282342	NM_005120.3(MED12):c.3354+6A>G	MED12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 129591	NM_005120.3(MED12):c.3797G>A (p.Arg1266His)	MED12 (R1266H)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 95247	NM_005120.3(MED12):c.3844G>A (p.Val1282Met)	MED12 (V1282M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 95248	NM_005120.3(MED12):c.3930A>C (p.Pro1310=)	MED12	Single nucleotide variant (synonymous variant)	Blepharophimosis - intellectual disability syndrome, MKB type +6 more	GBenign
Select item 196785	NM_005120.3(MED12):c.4416-77CTCTT[16]	MED12	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 95250	NM_005120.3(MED12):c.4416-77CTCTT[13]	MED12	Microsatellite (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 95251	NM_005120.3(MED12):c.4416-77CTCTT[6]	MED12	Microsatellite (intron variant)	not specified	GBenign
Select item 95249	NM_005120.3(MED12):c.4416-77CTCTT[11]	MED12	Microsatellite (intron variant)	not specified	GBenign
Select item 196904	NM_005120.3(MED12):c.4620G>A (p.Val1540=)	MED12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 196905	NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)	MED12 (W1557R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 166874	NM_005120.3(MED12):c.4831C>G (p.Arg1611Gly)	MED12 (R1611G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95252	NM_005120.3(MED12):c.4971T>C (p.Leu1657=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 95253	NM_005120.3(MED12):c.5316G>A (p.Pro1772=)	MED12	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197009	NM_005120.3(MED12):c.5400+6C>T	MED12	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95254	NM_005120.3(MED12):c.5535C>T (p.Asn1845=)	MED12	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 95255	NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)	MED12 (A1904V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 197467	NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)	MED12	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 213619	NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)	MED12	Microsatellite (inframe_insertion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 166875	NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)	MED12	Microsatellite (inframe_insertion)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 166876	NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)	MED12	Microsatellite (inframe_insertion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 197488	NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)	MED12	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197486	NM_005120.3(MED12):c.6285A>G (p.Gln2095=)	MED12	Single nucleotide variant (synonymous variant)	FG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 166877	NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)	MED12	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95256	NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)	MED12	Duplication (inframe_insertion)	not specified +2 more	GBenign/Likely benign

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Items: 38