ClinVar for MedGen (Select 45306) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 434

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244634	NC_000011.9:g.(?_88027619)_(88030969_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244633	NC_000011.9:g.(?_88027174)_(88033833_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244632	NC_000011.9:g.(?_88045536)_(88070840_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244631	NC_000011.9:g.(?_88033678)_(88033833_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244630	NC_000011.9:g.(?_88045536)_(88045742_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244628	NC_000011.9:g.(?_88027174)_(88070840_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3237164	NM_001814.6(CTSC):c.319-1G>T	CTSC	Single nucleotide variant (splice acceptor variant)	Papillon-Lefèvre syndrome	GPathogenic
Select item 3064404	NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)	CTSC (G300D)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome	GUncertain significance
Select item 2954499	NM_001814.6(CTSC):c.890-6C>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2954327	NM_001814.6(CTSC):c.173-15T>G	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2954203	NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)	CTSC (G139R)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2953935	NM_001814.6(CTSC):c.393C>T (p.Gly131=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2953724	NM_001814.6(CTSC):c.486-17C>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2953610	NM_001814.6(CTSC):c.495T>C (p.Asn165=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2953569	NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)	CTSC (A417fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2953018	NM_001814.6(CTSC):c.319-19_319-13del	CTSC	Deletion (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2952348	NM_001814.6(CTSC):c.591C>T (p.Thr197=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2952295	NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)	CTSC	Deletion (frameshift variant)	Papillon-Lefèvre syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2952256	NM_001814.6(CTSC):c.1104G>T (p.Gly368=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2951968	NM_001814.6(CTSC):c.546G>A (p.Gln182=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2951266	NM_001814.6(CTSC):c.641+12C>T	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2951257	NM_001814.6(CTSC):c.173-10_173-7del	CTSC	Deletion (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2951198	NM_001814.6(CTSC):c.706del (p.Asp236fs)	CTSC (D236fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2951116	NM_001814.6(CTSC):c.857del (p.Gln286fs)	CTSC (Q286fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2951064	NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)	CTSC (Y117*)	Single nucleotide variant (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2951009	NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)	CTSC	Deletion (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2950487	NM_001814.6(CTSC):c.173-8T>G	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2950406	NM_001814.6(CTSC):c.1011C>T (p.Cys337=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2950245	NM_001814.6(CTSC):c.1320G>A (p.Arg440=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2950239	NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)	CTSC (Y310*)	Single nucleotide variant (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2950091	NM_001814.6(CTSC):c.63C>G (p.Ala21=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2950088	NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)	CTSC (W101*)	Single nucleotide variant (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2950026	NM_001814.6(CTSC):c.173-11T>C	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2949623	NM_001814.6(CTSC):c.969C>G (p.Pro323=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2948337	NM_001814.6(CTSC):c.758-19G>A	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2948180	NM_001814.6(CTSC):c.319-11T>C	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2947095	NM_001814.6(CTSC):c.42G>C (p.Leu14=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2947029	NM_001814.6(CTSC):c.319-18del	CTSC	Deletion (intron variant)	Haim-Munk syndrome +2 more	GBenign
Select item 2946887	NM_001814.6(CTSC):c.522T>C (p.Phe174=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2946676	NM_001814.6(CTSC):c.485+12C>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2946166	NM_001814.6(CTSC):c.696A>G (p.Pro232=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2945631	NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)	CTSC (E401fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2945591	NM_001814.6(CTSC):c.486-9T>G	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2945572	NM_001814.6(CTSC):c.758-17_758-16del	CTSC	Deletion (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2945234	NM_001814.6(CTSC):c.319-4G>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2944892	NM_001814.6(CTSC):c.1323C>T (p.Ile441=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2944836	NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)	CTSC (Q160*)	Single nucleotide variant (nonsense)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2944784	NM_001814.6(CTSC):c.319-10T>C	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2944450	NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)	CTSC (Q293*)	Single nucleotide variant (nonsense)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2944280	NM_001814.6(CTSC):c.486-20T>C	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2944235	NM_001814.6(CTSC):c.213G>T (p.Leu71=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2944073	NM_001814.6(CTSC):c.319-20T>A	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2944044	NM_001814.6(CTSC):c.642-2A>G	CTSC	Single nucleotide variant (splice acceptor variant)	Haim-Munk syndrome +2 more	GLikely pathogenic
Select item 2943767	NM_001814.6(CTSC):c.1017T>C (p.Arg339=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2943390	NM_001814.6(CTSC):c.882T>C (p.Tyr294=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2943366	NM_001814.6(CTSC):c.18C>T (p.Ser6=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2942614	NM_001814.6(CTSC):c.249T>C (p.His83=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2942572	NM_001814.6(CTSC):c.942T>C (p.Phe314=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2942173	NM_001814.6(CTSC):c.750A>C (p.Arg250=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2941977	NM_001814.6(CTSC):c.757+17A>G	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2941927	NM_001814.6(CTSC):c.1158G>T (p.Gly386=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2941687	NM_001814.6(CTSC):c.319-5T>C	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2941658	NM_001814.6(CTSC):c.485+1G>A	CTSC	Single nucleotide variant (splice donor variant)	Haim-Munk syndrome +2 more	GLikely pathogenic
Select item 2940879	NM_001814.6(CTSC):c.319-17C>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2940836	NM_001814.6(CTSC):c.758-5G>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2940802	NM_001814.6(CTSC):c.414C>A (p.Thr138=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2940747	NM_001814.6(CTSC):c.586_587del (p.Leu196fs)	CTSC (L196fs)	Microsatellite (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2940574	NM_001814.6(CTSC):c.889+19A>G	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2940543	NM_001814.6(CTSC):c.319-17C>G	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2940108	NM_001814.6(CTSC):c.15C>T (p.Pro5=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2940036	NM_001814.6(CTSC):c.889+9T>C	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2939922	NM_001814.6(CTSC):c.1341G>A (p.Glu447=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2939908	NM_001814.6(CTSC):c.172+13C>T	CTSC, LOC130006572	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2939896	NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)	CTSC (P59T)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2939759	NM_001814.6(CTSC):c.180A>G (p.Gln60=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2939212	NM_001814.6(CTSC):c.480G>A (p.Gln160=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2939070	NM_001814.6(CTSC):c.111C>T (p.Gly37=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2938961	NM_001814.6(CTSC):c.897A>G (p.Glu299=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2938591	NM_001814.6(CTSC):c.978C>T (p.Gly326=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2938292	NM_001814.6(CTSC):c.51C>T (p.Ser17=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2938162	NM_001814.6(CTSC):c.641+20A>G	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2937769	NM_001814.6(CTSC):c.890-18T>C	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2937394	NM_001814.6(CTSC):c.174A>G (p.Gly58=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2937265	NM_001814.6(CTSC):c.318+17G>T	CTSC	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2936714	NM_001814.6(CTSC):c.407del (p.Cys136fs)	CTSC (C136fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2936576	NM_001814.6(CTSC):c.165G>A (p.Ser55=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2936273	NM_001814.6(CTSC):c.996A>G (p.Lys332=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2936006	NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)	CTSC (E451Q)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2935808	NM_001814.6(CTSC):c.1122del (p.Phe374fs)	CTSC (F374fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 2935660	NM_001814.6(CTSC):c.948G>A (p.Leu316=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2935264	NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2935256	NM_001814.6(CTSC):c.222A>G (p.Ala74=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2935156	NM_001814.6(CTSC):c.486-25_492del	CTSC	Deletion (splice acceptor variant)	Haim-Munk syndrome +2 more	GLikely pathogenic
Select item 2934846	NM_001814.6(CTSC):c.762C>G (p.Ser254=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2934815	NM_001814.6(CTSC):c.757+9dup	CTSC	Duplication (intron variant)	Haim-Munk syndrome +2 more	GBenign
Select item 2934516	NM_001814.6(CTSC):c.243T>G (p.Ser81=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2934151	NM_001814.6(CTSC):c.288G>A (p.Leu96=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2934001	NM_001814.6(CTSC):c.1377A>G (p.Pro459=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2933972	NM_001814.6(CTSC):c.678A>G (p.Gln226=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2933811	NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)	CTSC (Y170*)	Duplication (nonsense)	Haim-Munk syndrome +2 more	GPathogenic

<< First< Prev

Page of 5