"Ambry Genetics"[submitter] AND "LOC126863275"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520621	NM_005120.3(MED12):c.1300del (p.Ala434fs)	LOC126863275, MED12 (A434fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 705527	NM_005120.3(MED12):c.1323C>T (p.Phe441=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome +1 more	GLikely benign
Select item 458812	NM_005120.3(MED12):c.1332C>T (p.Cys444=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 514540	NM_005120.3(MED12):c.1344T>G (p.Thr448=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome +2 more	GLikely benign
Select item 937660	NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)	LOC126863275, MED12 (R455Q)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1146211	NM_005120.3(MED12):c.1377T>A (p.Thr459=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome +1 more	GLikely benign
Select item 213621	NM_005120.3(MED12):c.1386G>T (p.Val462=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome +3 more	GBenign
Select item 520629	NM_005120.3(MED12):c.1475A>G (p.Asp492Gly)	LOC126863275, MED12 (D492G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450598	NM_005120.3(MED12):c.1504G>A (p.Ala502Thr)	LOC126863275, MED12 (A502T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1308385	NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)	LOC126863275, MED12 (A522G)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
Select item 1775711	NM_005120.3(MED12):c.1581G>A (p.Lys527=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 700362	NM_005120.3(MED12):c.1599G>A (p.Gln533=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 578754	NM_005120.3(MED12):c.1619G>A (p.Arg540His)	LOC126863275, MED12 (R540H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1776964	NM_005120.3(MED12):c.1638C>T (p.Ala546=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 702903	NM_005120.3(MED12):c.1639G>A (p.Ala547Thr)	LOC126863275, MED12 (A547T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 506887	NM_005120.3(MED12):c.1659C>T (p.Ile553=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 213645	NM_005120.3(MED12):c.1660G>A (p.Ala554Thr)	LOC126863275, MED12 (A554T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 797200	NM_005120.3(MED12):c.1662C>T (p.Ala554=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 423394	NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)	LOC126863275, MED12 (P561L)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 211469	NM_005120.3(MED12):c.1695T>A (p.Ile565=)	LOC126863275, MED12	Single nucleotide variant (synonymous variant)	FG syndrome +3 more	GBenign
Select item 1585956	NM_005120.3(MED12):c.1738A>G (p.Met580Val)	LOC126863275, MED12 (M580V)	Single nucleotide variant (missense variant)	FG syndrome +1 more	GLikely benign

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Items: 21