ClinVar for Gene (Select 28962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303629	NM_014028.4(OSTM1):c.392G>A (p.Arg131Gln)	OSTM1 (R131Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255027	NM_014028.4(OSTM1):c.811C>T (p.Arg271Ter)	OSTM1 (R271*)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 5	GPathogenic
Select item 3246218	NC_000006.11:g.(?_108375674)_(108375811_?)dup	OSTM1	Duplication	not provided	GLikely pathogenic
Select item 3246217	NC_000006.11:g.(?_108385369)_(108385523_?)dup	OSTM1	Duplication	not provided	GLikely pathogenic
Select item 3246216	NC_000006.11:g.(?_108385369)_(108385523_?)del	OSTM1	Deletion	not provided	GPathogenic
Select item 3246215	NC_000006.11:g.(?_108395434)_(108395855_?)del	OSTM1	Deletion	not provided	GPathogenic
Select item 3207199	NM_014028.4(OSTM1):c.47C>T (p.Pro16Leu)	LOC129996933, OSTM1 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207198	NM_014028.4(OSTM1):c.171C>G (p.Asp57Glu)	OSTM1 (D57E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062920	GRCh37/hg19 6q21(chr6:107876812-109065741)x3	AFG1L, FOXO3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3013219	NM_014028.4(OSTM1):c.90G>C (p.Leu30=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010427	NM_014028.4(OSTM1):c.351C>T (p.Pro117=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007870	NM_014028.4(OSTM1):c.784-4C>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993802	NM_014028.4(OSTM1):c.784-17G>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992641	NM_014028.4(OSTM1):c.756A>G (p.Thr252=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992544	NM_014028.4(OSTM1):c.950-16C>A	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992119	NM_014028.4(OSTM1):c.321G>T (p.Arg107=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977428	NM_014028.4(OSTM1):c.784-10C>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971056	NM_014028.4(OSTM1):c.99C>T (p.Leu33=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967320	NM_014028.4(OSTM1):c.616-8C>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964877	NM_014028.4(OSTM1):c.717A>G (p.Gln239=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960717	NM_014028.4(OSTM1):c.784-20_784-18del	OSTM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2915422	NM_014028.4(OSTM1):c.256G>T (p.Glu86Ter)	OSTM1 (E86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2903667	NM_014028.4(OSTM1):c.25C>T (p.Gln9Ter)	LOC129996933, OSTM1 (Q9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2899690	NM_014028.4(OSTM1):c.918C>T (p.His306=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897843	NM_014028.4(OSTM1):c.561A>G (p.Val187=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894314	NM_014028.4(OSTM1):c.96G>T (p.Ala32=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888220	NM_014028.4(OSTM1):c.549A>T (p.Ser183=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888219	NM_014028.4(OSTM1):c.551del (p.Asn184fs)	OSTM1 (N184fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2880884	NM_014028.4(OSTM1):c.144G>T (p.Ser48=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880749	NM_014028.4(OSTM1):c.447A>C (p.Ala149=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879555	NM_014028.4(OSTM1):c.402+8C>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879257	NM_014028.4(OSTM1):c.183C>T (p.Ser61=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878419	NM_014028.4(OSTM1):c.517+10T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877127	NM_014028.4(OSTM1):c.105C>T (p.Phe35=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875827	NM_014028.4(OSTM1):c.615+15A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871289	NM_014028.4(OSTM1):c.950-4C>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870166	NM_014028.4(OSTM1):c.518-18T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870074	NM_014028.4(OSTM1):c.672C>T (p.Cys224=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869196	NM_014028.4(OSTM1):c.498G>A (p.Trp166Ter)	OSTM1 (W166*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865906	NM_014028.4(OSTM1):c.403-17T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864409	NM_014028.4(OSTM1):c.570T>C (p.Leu190=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859546	NM_014028.4(OSTM1):c.360A>G (p.Gln120=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858547	NM_014028.4(OSTM1):c.949+12A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858168	NM_014028.4(OSTM1):c.252C>T (p.Cys84=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852544	NM_014028.4(OSTM1):c.207G>C (p.Gly69=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849498	NM_014028.4(OSTM1):c.873C>T (p.Phe291=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847543	NM_014028.4(OSTM1):c.616-14del	OSTM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2847539	NM_014028.4(OSTM1):c.616-3del	OSTM1	Deletion (intron variant)	not provided	GBenign
Select item 2846899	NM_014028.4(OSTM1):c.518-20T>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845496	NM_014028.4(OSTM1):c.616-10G>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844893	NM_014028.4(OSTM1):c.465T>G (p.Val155=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843428	NM_014028.4(OSTM1):c.201G>T (p.Gly67=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843011	NM_014028.4(OSTM1):c.950-16C>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837041	NM_014028.4(OSTM1):c.615+17A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836379	NM_014028.4(OSTM1):c.651T>C (p.Tyr217=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829244	NM_014028.4(OSTM1):c.408T>C (p.Thr136=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825542	NM_014028.4(OSTM1):c.402+1G>A	OSTM1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2825519	NM_014028.4(OSTM1):c.762A>G (p.Leu254=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825034	NM_014028.4(OSTM1):c.783+15dup	OSTM1	Duplication (intron variant)	not provided	GLikely benign
Select item 2819257	NM_014028.4(OSTM1):c.950-20A>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816687	NM_014028.4(OSTM1):c.489T>C (p.Asn163=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807499	NM_014028.4(OSTM1):c.201G>A (p.Gly67=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804385	NM_014028.4(OSTM1):c.946C>T (p.Leu316=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803919	NM_014028.4(OSTM1):c.789C>T (p.Asn263=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800678	NM_014028.4(OSTM1):c.939A>G (p.Lys313=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798468	NM_014028.4(OSTM1):c.705C>T (p.Tyr235=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798246	NM_014028.4(OSTM1):c.950-6A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796825	NM_014028.4(OSTM1):c.616-20A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796079	NM_014028.4(OSTM1):c.276C>T (p.Ala92=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794000	NM_014028.4(OSTM1):c.518-11T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793517	NM_014028.4(OSTM1):c.517+7_517+10del	OSTM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2789658	NM_014028.4(OSTM1):c.819C>T (p.Phe273=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786499	NM_014028.4(OSTM1):c.351C>A (p.Pro117=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781429	NM_014028.4(OSTM1):c.616-19T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780651	NM_014028.4(OSTM1):c.627T>C (p.His209=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780225	NM_014028.4(OSTM1):c.609C>T (p.Asn203=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778573	NM_014028.4(OSTM1):c.585C>T (p.His195=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769199	NM_014028.4(OSTM1):c.518-20T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767208	NM_014028.4(OSTM1):c.397G>C (p.Ala133Pro)	OSTM1 (A133P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767207	NM_014028.4(OSTM1):c.402_402+1dup	OSTM1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 2758265	NM_014028.4(OSTM1):c.57G>C (p.Pro19=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755959	NM_014028.4(OSTM1):c.784-16T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755196	NM_014028.4(OSTM1):c.402+20C>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751594	NM_014028.4(OSTM1):c.700C>T (p.Leu234=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750472	NM_014028.4(OSTM1):c.615+7T>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749909	NM_014028.4(OSTM1):c.783+11dup	OSTM1	Duplication (intron variant)	not provided	GLikely benign
Select item 2746162	NM_014028.4(OSTM1):c.560del (p.Val187fs)	OSTM1 (V187fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2744556	NM_014028.4(OSTM1):c.518-11T>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734467	NM_014028.4(OSTM1):c.525A>G (p.Leu175=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726418	NM_014028.4(OSTM1):c.949+15A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719785	NM_014028.4(OSTM1):c.588C>A (p.Thr196=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716094	NM_014028.4(OSTM1):c.816T>A (p.Thr272=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708822	NM_014028.4(OSTM1):c.69G>C (p.Leu23=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703439	NM_014028.4(OSTM1):c.358C>T (p.Gln120Ter)	OSTM1 (Q120*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2702758	NM_014028.4(OSTM1):c.141G>C (p.Leu47=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702449	NM_014028.4(OSTM1):c.276C>G (p.Ala92=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701807	NM_014028.4(OSTM1):c.66G>C (p.Leu22=)	LOC129996933, OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701327	NM_014028.4(OSTM1):c.783+20T>A	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700618	NM_014028.4(OSTM1):c.304C>T (p.Leu102=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699993	NM_014028.4(OSTM1):c.861T>C (p.Ala287=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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