ClinVar for MedGen (Select 332113) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526417	NM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr)	SNAP29 (D13Y)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GUncertain significance
Select item 1332801	NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)	SNAP29 (D40Y)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GLikely pathogenic
Select item 1030838	NM_004782.4(SNAP29):c.435-3A>G	SNAP29	Single nucleotide variant (intron variant)	CEDNIK syndrome	GUncertain significance
Select item 902991	NM_004782.4(SNAP29):c.*3014C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 902990	NM_004782.4(SNAP29):c.*2944A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 902989	NM_004782.4(SNAP29):c.*2892C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 902817	NM_004782.4(SNAP29):c.*2171T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 902816	NM_004782.4(SNAP29):c.*2059C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 902758	NM_004782.4(SNAP29):c.*755A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 902757	NM_004782.4(SNAP29):c.*624C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 902756	NM_004782.4(SNAP29):c.*590T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 902684	NM_004782.4(SNAP29):c.238-12C>T	SNAP29	Single nucleotide variant (intron variant)	CEDNIK syndrome +1 more	GConflicting classifications of pathogenicity
Select item 902683	NM_004782.4(SNAP29):c.237+10G>T	SNAP29	Single nucleotide variant (intron variant)	CEDNIK syndrome	GUncertain significance
Select item 902682	NM_004782.4(SNAP29):c.199A>G (p.Met67Val)	SNAP29 (M67V)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GUncertain significance
Select item 901967	NM_004782.4(SNAP29):c.*2868A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901966	NM_004782.4(SNAP29):c.*2796G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 901906	NM_004782.4(SNAP29):c.*2039T>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901905	NM_004782.4(SNAP29):c.*1874A>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901904	NM_004782.4(SNAP29):c.*1675C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901848	NM_004782.4(SNAP29):c.*507A>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901847	NM_004782.4(SNAP29):c.*496C>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901846	NM_004782.4(SNAP29):c.*267C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901845	NM_004782.4(SNAP29):c.*242G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901419	NM_004782.4(SNAP29):c.*2749A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901418	NM_004782.4(SNAP29):c.*2738G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901417	NM_004782.4(SNAP29):c.*2712G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901416	NM_004782.4(SNAP29):c.*2678T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901362	NM_004782.4(SNAP29):c.*1438G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901361	NM_004782.4(SNAP29):c.*1437T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901299	NM_004782.4(SNAP29):c.*210A>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901298	NM_004782.4(SNAP29):c.*61C>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901297	NM_004782.4(SNAP29):c.*26T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 901296	NM_004782.4(SNAP29):c.*6G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 901295	NM_004782.4(SNAP29):c.697A>G (p.Ile233Val)	SNAP29 (I233V)	Single nucleotide variant (missense variant)	CEDNIK syndrome	GUncertain significance
Select item 901234	NM_004782.4(SNAP29):c.-58C>A	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901233	NM_004782.4(SNAP29):c.-60G>A	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 901232	NM_004782.4(SNAP29):c.-93G>T	SNAP29	Single nucleotide variant (5 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900499	NM_004782.4(SNAP29):c.*3285G>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 900498	NM_004782.4(SNAP29):c.*3284G>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900497	NM_004782.4(SNAP29):c.*3283T>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900496	NM_004782.4(SNAP29):c.*3268T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900258	NM_004782.4(SNAP29):c.*2484G>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900257	NM_004782.4(SNAP29):c.*2412C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900256	NM_004782.4(SNAP29):c.*2364A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900255	NM_004782.4(SNAP29):c.*2280G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900254	NM_004782.4(SNAP29):c.*2277C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 900195	NM_004782.4(SNAP29):c.*1174C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900194	NM_004782.4(SNAP29):c.*991C>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900193	NM_004782.4(SNAP29):c.*948G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900192	NM_004782.4(SNAP29):c.*822C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 900137	NM_004782.4(SNAP29):c.620-4G>A	SNAP29	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 900136	NM_004782.4(SNAP29):c.620-6C>G	SNAP29	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900135	NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)	SNAP29 (D203N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 900134	NM_004782.4(SNAP29):c.520+14T>C	SNAP29	Single nucleotide variant (intron variant)	CEDNIK syndrome	GUncertain significance
Select item 900133	NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg)	SNAP29 (T173R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899376	NM_004782.4(SNAP29):c.*3246A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 899375	NM_004782.4(SNAP29):c.*3233A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 899374	NM_004782.4(SNAP29):c.*3156G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 734948	NM_004782.4(SNAP29):c.72T>A (p.Pro24=)	SNAP29	Single nucleotide variant (synonymous variant)	SNAP29-related condition +2 more	GBenign
Select item 495289	NC_000022.11:g.(?_21213348)_(21242174_?)del	GGT2, SNAP29	Deletion	CEDNIK syndrome	GLikely pathogenic
Select item 421595	NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)	SNAP29 (E208*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 340904	NM_004782.4(SNAP29):c.*3252T>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 340903	NM_004782.4(SNAP29):c.*3193G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340902	NM_004782.4(SNAP29):c.*3171G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340901	NM_004782.4(SNAP29):c.*3107C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340900	NM_004782.4(SNAP29):c.*3035C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340899	NM_004782.4(SNAP29):c.*3015G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340898	NM_004782.4(SNAP29):c.*2961T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340897	NM_004782.4(SNAP29):c.2937_2944del	SNAP29	Deletion (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340896	NM_004782.4(SNAP29):c.*2944del	SNAP29	Deletion (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340895	NM_004782.4(SNAP29):c.*2912G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340894	NM_004782.4(SNAP29):c.*2879C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340893	NM_004782.4(SNAP29):c.*2872G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340892	NM_004782.4(SNAP29):c.*2856G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340891	NM_004782.4(SNAP29):c.*2816A>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340890	NM_004782.4(SNAP29):c.*2795C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340889	NM_004782.4(SNAP29):c.*2791T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340888	NM_004782.4(SNAP29):c.*2783C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340887	NM_004782.4(SNAP29):c.*2777G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340886	NM_004782.4(SNAP29):c.*2692C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340885	NM_004782.4(SNAP29):c.*2564dup	SNAP29	Duplication (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340884	NM_004782.4(SNAP29):c.*2551G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340883	NM_004782.4(SNAP29):c.*2501G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340882	NM_004782.4(SNAP29):c.*2411T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 340881	NM_004782.4(SNAP29):c.*2304C>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340880	NM_004782.4(SNAP29):c.*2261G>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340879	NM_004782.4(SNAP29):c.*2261G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340878	NM_004782.4(SNAP29):c.*2179G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340877	NM_004782.4(SNAP29):c.*2168A>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340876	NM_004782.4(SNAP29):c.*2143G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 340875	NM_004782.4(SNAP29):c.*2111G>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340874	NM_004782.4(SNAP29):c.*2121dup	SNAP29	Duplication (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340873	NM_004782.4(SNAP29):c.*2105T>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign
Select item 340872	NM_004782.4(SNAP29):c.*2052A>T	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340871	NM_004782.4(SNAP29):c.*2028G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340870	NM_004782.4(SNAP29):c.*1789C>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340869	NM_004782.4(SNAP29):c.*1667G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GLikely benign
Select item 340868	NM_004782.4(SNAP29):c.*1589T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340867	NM_004782.4(SNAP29):c.*1570T>C	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GUncertain significance
Select item 340866	NM_004782.4(SNAP29):c.*1563T>G	SNAP29	Single nucleotide variant (3 prime UTR variant)	CEDNIK syndrome	GBenign

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