ClinVar for MedGen (Select 342416) - ClinVar

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Items: 40

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16766681.	NG_033970.2:g.(8164_21328)_(21408_56449)del	FAM20C		Lethal osteosclerotic bone dysplasia	Pathogenic (Apr 13, 2022)	no assertion criteria provided
Select item 16766672.	NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp) GRCh37: Chr7:295836 GRCh38: Chr7:255870	FAM20C	G365D	Lethal osteosclerotic bone dysplasia	Pathogenic (Apr 13, 2022)	no assertion criteria provided
Select item 16499133.	NM_020223.4(FAM20C):c.600G>C (p.Pro200=) GRCh37: Chr7:193799 GRCh38: Chr7:193799	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 16017164.	NM_020223.4(FAM20C):c.1748C>T (p.Ala583Val) GRCh37: Chr7:299939 GRCh38: Chr7:259973	FAM20C	A583V	Lethal osteosclerotic bone dysplasia, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13698465.	NM_020223.4(FAM20C):c.1651C>T (p.Arg551Cys) GRCh37: Chr7:299842 GRCh38: Chr7:259876	FAM20C	R551C	Lethal osteosclerotic bone dysplasia, Inborn genetic diseases, not provided	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13332036.	NM_020223.4(FAM20C):c.838G>A (p.Gly280Arg) GRCh37: Chr7:208951 GRCh38: Chr7:208951	FAM20C	G280R	Lethal osteosclerotic bone dysplasia	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 12759707.	NM_020223.4(FAM20C):c.1072+23A>G GRCh37: Chr7:288419 GRCh38: Chr7:248453	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11854598.	NM_020223.4(FAM20C):c.*30G>A GRCh37: Chr7:299976 GRCh38: Chr7:260010	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11854589.	NM_020223.4(FAM20C):c.1506-55G>A GRCh37: Chr7:299642 GRCh38: Chr7:259676	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118545710.	NM_020223.4(FAM20C):c.1254-63T>C GRCh37: Chr7:296557 GRCh38: Chr7:256591	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118545411.	NM_020223.4(FAM20C):c.956+61A>G GRCh37: Chr7:286534 GRCh38: Chr7:246568	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118207312.	NM_020223.4(FAM20C):c.*41C>G GRCh37: Chr7:299987 GRCh38: Chr7:260021	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116902813.	NM_020223.4(FAM20C):c.1749G>A (p.Ala583=) GRCh37: Chr7:299940 GRCh38: Chr7:259974	FAM20C		Lethal osteosclerotic bone dysplasia, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116859114.	NM_020223.4(FAM20C):c.1740C>T (p.Ala580=) GRCh37: Chr7:299931 GRCh38: Chr7:259965	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116856515.	NM_020223.4(FAM20C):c.1505+20C>T GRCh37: Chr7:298691 GRCh38: Chr7:258725	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116760316.	NM_020223.4(FAM20C):c.1363+10G>A GRCh37: Chr7:296739 GRCh38: Chr7:256773	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116538317.	NM_020223.4(FAM20C):c.784+19A>T GRCh37: Chr7:195751 GRCh38: Chr7:195751	FAM20C		not provided, Lethal osteosclerotic bone dysplasia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104536818.	NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp) GRCh37: Chr7:193657 GRCh38: Chr7:193657	FAM20C	G153D	Lethal osteosclerotic bone dysplasia, Inborn genetic diseases, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93595119.	NM_020223.4(FAM20C):c.1690A>C (p.Asn564His) GRCh37: Chr7:299881 GRCh38: Chr7:259915	FAM20C	N564H	Inborn genetic diseases, not provided, Lethal osteosclerotic bone dysplasia	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93091720.	NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys) GRCh37: Chr7:296982 GRCh38: Chr7:257016	FAM20C	R459C	Inborn genetic diseases, Lethal osteosclerotic bone dysplasia	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72095321.	NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu) GRCh37: Chr7:195679 GRCh38: Chr7:195679	FAM20C	P244L	not provided, Lethal osteosclerotic bone dysplasia	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44400522.	NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) GRCh37: Chr7:299871 GRCh38: Chr7:259905	FAM20C	C560*	Lethal osteosclerotic bone dysplasia	Uncertain significance	no assertion criteria provided
Select item 40284523.	NM_020223.4(FAM20C):c.953_956+30dup GRCh37: Chr7:286468-286469 GRCh38: Chr7:246502-246503	FAM20C		not specified, not provided, Lethal osteosclerotic bone dysplasia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28926924.	NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) GRCh37: Chr7:295970 GRCh38: Chr7:256004	FAM20C	S410T	not specified, not provided, Lethal osteosclerotic bone dysplasia	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28193025.	NM_020223.4(FAM20C):c.885A>G (p.Thr295=) GRCh37: Chr7:286402 GRCh38: Chr7:246436	FAM20C		not provided, not specified, Lethal osteosclerotic bone dysplasia	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19373126.	NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) GRCh37: Chr7:299881 GRCh38: Chr7:259915	FAM20C	N564D	not provided, not specified, Lethal osteosclerotic bone dysplasia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19373027.	NM_020223.4(FAM20C):c.1659G>T (p.Val553=) GRCh37: Chr7:299850 GRCh38: Chr7:259884	FAM20C		not provided, not specified, Lethal osteosclerotic bone dysplasia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19372928.	NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) GRCh37: Chr7:299872 GRCh38: Chr7:259906	FAM20C	V561M	not specified, not provided, Lethal osteosclerotic bone dysplasia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3087829.	NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser) GRCh37: Chr7:288306 GRCh38: Chr7:248340	FAM20C	P328S	Lethal osteosclerotic bone dysplasia	Pathogenic (Aug 1, 2011)	no assertion criteria provided
Select item 3087730.	NM_020223.4(FAM20C):c.796G>A (p.Gly266Arg) GRCh37: Chr7:208909 GRCh38: Chr7:208909	FAM20C	G266R	not provided	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 3087631.	NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn) GRCh37: Chr7:195685 GRCh38: Chr7:195685	FAM20C	I246N	Lethal osteosclerotic bone dysplasia	Pathogenic (Mar 1, 2009)	no assertion criteria provided
Select item 3087532.	NM_020223.4(FAM20C):c.1351G>A (p.Asp451Asn) GRCh37: Chr7:296717 GRCh38: Chr7:256751	FAM20C	D451N	not provided	Likely pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 103033.	NM_020223.4(FAM20C):c.1446-1G>A GRCh37: Chr7:298611 GRCh38: Chr7:258645	FAM20C		Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 102934.	NM_020223.4(FAM20C):c.956+5G>C GRCh37: Chr7:286478 GRCh38: Chr7:246512	FAM20C		Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 102835.	NM_020223.4(FAM20C):c.1364-2A>G GRCh37: Chr7:296969 GRCh38: Chr7:257003	FAM20C		Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 102736.	NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu) GRCh37: Chr7:295878 GRCh38: Chr7:255912	FAM20C	G379E	Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 102637.	NM_020223.4(FAM20C):c.957-3C>G GRCh37: Chr7:288278 GRCh38: Chr7:248312	FAM20C		Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 102538.	NM_020223.4(FAM20C):c.1645C>T (p.Arg549Trp) GRCh37: Chr7:299836 GRCh38: Chr7:259870	FAM20C	R549W	not provided	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 102439.	NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg) GRCh37: Chr7:295905 GRCh38: Chr7:255939	FAM20C	L388R	Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided
Select item 102340.	NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg) GRCh37: Chr7:295835 GRCh38: Chr7:255869	FAM20C	G365R	Lethal osteosclerotic bone dysplasia	Pathogenic (Nov 1, 2007)	no assertion criteria provided

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Items: 40