ClinVar for MedGen (Select 342416) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068037	NM_020223.4(FAM20C):c.1331T>G (p.Val444Gly)	FAM20C (V444G)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GLikely pathogenic
Select item 2637599	NM_020223.4(FAM20C):c.474del (p.Ser159fs)	FAM20C (S159fs)	Deletion (frameshift variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1676668	NG_033970.2:g.(8164_21328)_(21408_56449)del	FAM20C	Deletion	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1676667	NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp)	FAM20C (G365D)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1649913	NM_020223.4(FAM20C):c.600G>C (p.Pro200=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1601716	NM_020223.4(FAM20C):c.1748C>T (p.Ala583Val)	FAM20C (A583V)	Single nucleotide variant (missense variant)	FAM20C-related condition +2 more	GBenign/Likely benign
Select item 1369846	NM_020223.4(FAM20C):c.1651C>T (p.Arg551Cys)	FAM20C (R551C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1333203	NM_020223.4(FAM20C):c.838G>A (p.Gly280Arg)	FAM20C (G280R)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GUncertain significance
Select item 1275970	NM_020223.4(FAM20C):c.1072+23A>G	FAM20C	Single nucleotide variant (intron variant)	Lethal osteosclerotic bone dysplasia +1 more	GBenign
Select item 1185459	NM_020223.4(FAM20C):c.*30G>A	FAM20C	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1185458	NM_020223.4(FAM20C):c.1506-55G>A	FAM20C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185457	NM_020223.4(FAM20C):c.1254-63T>C	FAM20C	Single nucleotide variant (intron variant)	Lethal osteosclerotic bone dysplasia +1 more	GBenign
Select item 1185454	NM_020223.4(FAM20C):c.956+61A>G	FAM20C	Single nucleotide variant (intron variant)	Lethal osteosclerotic bone dysplasia +1 more	GBenign
Select item 1182073	NM_020223.4(FAM20C):c.*41C>G	FAM20C	Single nucleotide variant (3 prime UTR variant)	Lethal osteosclerotic bone dysplasia +1 more	GBenign
Select item 1169028	NM_020223.4(FAM20C):c.1749G>A (p.Ala583=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168591	NM_020223.4(FAM20C):c.1740C>T (p.Ala580=)	FAM20C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168565	NM_020223.4(FAM20C):c.1505+20C>T	FAM20C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1167603	NM_020223.4(FAM20C):c.1363+10G>A	FAM20C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165383	NM_020223.4(FAM20C):c.784+19A>T	FAM20C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1045368	NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp)	FAM20C (G153D)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia +2 more	GUncertain significance
Select item 935951	NM_020223.4(FAM20C):c.1690A>C (p.Asn564His)	FAM20C (N564H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 930917	NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys)	FAM20C (R459C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 720953	NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu)	FAM20C (P244L)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia +1 more	GLikely benign
Select item 444005	NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter)	FAM20C (C560*)	Single nucleotide variant (nonsense)	Lethal osteosclerotic bone dysplasia	GUncertain significance
Select item 402845	NM_020223.4(FAM20C):c.953_956+30dup	FAM20C	Duplication (splice donor variant)	not specified +3 more	GBenign
Select item 289269	NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr)	FAM20C (S410T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 281930	NM_020223.4(FAM20C):c.885A>G (p.Thr295=)	FAM20C	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 193731	NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp)	FAM20C (N564D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 193730	NM_020223.4(FAM20C):c.1659G>T (p.Val553=)	FAM20C	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 193729	NM_020223.4(FAM20C):c.1681G>A (p.Val561Met)	FAM20C (V561M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 30878	NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser)	FAM20C (P328S)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 30877	NM_020223.4(FAM20C):c.796G>A (p.Gly266Arg)	FAM20C (G266R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30876	NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn)	FAM20C (I246N)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 30875	NM_020223.4(FAM20C):c.1351G>A (p.Asp451Asn)	FAM20C (D451N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1030	NM_020223.4(FAM20C):c.1446-1G>A	FAM20C	Single nucleotide variant (splice acceptor variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1029	NM_020223.4(FAM20C):c.956+5G>C	FAM20C	Single nucleotide variant (intron variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1028	NM_020223.4(FAM20C):c.1364-2A>G	FAM20C	Single nucleotide variant (splice acceptor variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1027	NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu)	FAM20C (G379E)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1026	NM_020223.4(FAM20C):c.957-3C>G	FAM20C	Single nucleotide variant (intron variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1025	NM_020223.4(FAM20C):c.1645C>T (p.Arg549Trp)	FAM20C (R549W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024	NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg)	FAM20C (L388R)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 1023	NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg)	FAM20C (G365R)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GPathogenic

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Items: 42