ClinVar for MedGen (Select 164078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247223	NC_000002.11:g.(?_217303181)_(217308995_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3247222	NC_000002.11:g.(?_217285002)_(217315807_?)dup	SMARCAL1	Duplication	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3247221	NC_000002.11:g.(?_217339972)_(217343042_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic
Select item 3247220	NC_000002.11:g.(?_217311721)_(217347700_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic
Select item 3247219	NC_000002.11:g.(?_217339982)_(217340184_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic
Select item 3028898	NM_014140.4(SMARCAL1):c.886del (p.Thr296fs)	SMARCAL1 (T296fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3022789	NM_014140.4(SMARCAL1):c.2071-12A>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3022151	NM_014140.4(SMARCAL1):c.1485+18T>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3016568	NM_014140.4(SMARCAL1):c.2529-12T>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3008111	NM_014140.4(SMARCAL1):c.1852-19G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3003653	NM_014140.4(SMARCAL1):c.2775C>G (p.Thr925=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3002835	NM_014140.4(SMARCAL1):c.2337G>A (p.Val779=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3002321	NM_014140.4(SMARCAL1):c.812-19G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3002318	NM_014140.4(SMARCAL1):c.1710+16A>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3000494	NM_014140.4(SMARCAL1):c.1711-20T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2997810	NM_014140.4(SMARCAL1):c.366C>A (p.Ile122=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2997551	NM_014140.4(SMARCAL1):c.812-4T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2997384	NM_014140.4(SMARCAL1):c.1486-14C>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2992998	NM_014140.4(SMARCAL1):c.1710+2T>C	SMARCAL1	Single nucleotide variant (splice donor variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 2992365	NM_014140.4(SMARCAL1):c.811+9T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2990943	NM_014140.4(SMARCAL1):c.90A>C (p.Ala30=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2989107	NM_014140.4(SMARCAL1):c.1110G>A (p.Arg370=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2979711	NM_014140.4(SMARCAL1):c.1645-15G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2978683	NM_014140.4(SMARCAL1):c.645G>C (p.Thr215=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2976441	NM_014140.4(SMARCAL1):c.1467G>T (p.Val489=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2973265	NM_014140.4(SMARCAL1):c.1096+12G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2971718	NM_014140.4(SMARCAL1):c.812-12G>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2971664	NM_014140.4(SMARCAL1):c.1486-11G>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2970305	NM_014140.4(SMARCAL1):c.2626-11C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2966561	NM_014140.4(SMARCAL1):c.963C>T (p.Gly321=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2962124	NM_014140.4(SMARCAL1):c.1710+20G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2959860	NM_014140.4(SMARCAL1):c.2141+17T>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2955054	NM_014140.4(SMARCAL1):c.939C>A (p.Ser313=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2954567	NM_014140.4(SMARCAL1):c.1852-7T>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2921019	NM_014140.4(SMARCAL1):c.1334+15T>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2920103	NM_014140.4(SMARCAL1):c.891C>T (p.Val297=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2919424	NM_014140.4(SMARCAL1):c.1851+17C>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2918918	NM_014140.4(SMARCAL1):c.1875A>G (p.Ser625=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2914549	NM_014140.4(SMARCAL1):c.1881del (p.Ser628fs)	SMARCAL1 (S628fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2914411	NM_014140.4(SMARCAL1):c.2427+11C>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2914109	NM_014140.4(SMARCAL1):c.987A>C (p.Ser329=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2913955	NM_014140.4(SMARCAL1):c.1486-5C>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2913954	NM_014140.4(SMARCAL1):c.1486-7T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2913390	NM_014140.4(SMARCAL1):c.1710+12T>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2912620	NM_014140.4(SMARCAL1):c.2071-16_2071-12del	SMARCAL1	Deletion (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2908728	NM_014140.4(SMARCAL1):c.1097_1098del (p.Asp366fs)	SMARCAL1 (D366fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2908526	NM_014140.4(SMARCAL1):c.1851+12C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2907351	NM_014140.4(SMARCAL1):c.1096+15T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2903959	NM_014140.4(SMARCAL1):c.2070+11G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2901961	NM_014140.4(SMARCAL1):c.987A>G (p.Ser329=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2900566	NM_014140.4(SMARCAL1):c.222G>A (p.Gln74=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2899836	NM_014140.4(SMARCAL1):c.2428-12C>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2897586	NM_014140.4(SMARCAL1):c.2625+7C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2896106	NM_014140.4(SMARCAL1):c.1125C>T (p.Leu375=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2892387	NM_014140.4(SMARCAL1):c.561T>C (p.Asp187=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2892238	NM_014140.4(SMARCAL1):c.2245-13C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2890632	NM_014140.4(SMARCAL1):c.2244+19T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GBenign
Select item 2889903	NM_014140.4(SMARCAL1):c.1701G>C (p.Pro567=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2888318	NM_014140.4(SMARCAL1):c.1197G>A (p.Thr399=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2888237	NM_014140.4(SMARCAL1):c.1353A>G (p.Gly451=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2884485	NM_014140.4(SMARCAL1):c.2742A>G (p.Thr914=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2884005	NM_014140.4(SMARCAL1):c.1644+17A>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2883054	NM_014140.4(SMARCAL1):c.1148-20G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2882845	NM_014140.4(SMARCAL1):c.1524C>T (p.Cys508=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2882835	NM_014140.4(SMARCAL1):c.1644+12G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2878949	NM_014140.4(SMARCAL1):c.2070+8C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2876809	NM_014140.4(SMARCAL1):c.126dup (p.Ala43fs)	SMARCAL1 (A43fs)	Duplication (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2876571	NM_014140.4(SMARCAL1):c.1729C>T (p.Leu577=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2876456	NM_014140.4(SMARCAL1):c.1334+12A>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2872343	NM_014140.4(SMARCAL1):c.228C>A (p.Leu76=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2871883	NM_014140.4(SMARCAL1):c.1578T>C (p.Ile526=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2867856	NM_014140.4(SMARCAL1):c.492T>C (p.His164=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2865793	NM_014140.4(SMARCAL1):c.2625+15T>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2865619	NM_014140.4(SMARCAL1):c.2141+18G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2865163	NM_014140.4(SMARCAL1):c.2070+15G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2864457	NM_014140.4(SMARCAL1):c.2829T>C (p.Phe943=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2862466	NM_014140.4(SMARCAL1):c.2340C>G (p.Ala780=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2862301	NM_014140.4(SMARCAL1):c.1096+14del	SMARCAL1	Deletion (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2860927	NM_014140.4(SMARCAL1):c.2245-6C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2860530	NM_014140.4(SMARCAL1):c.1148-17T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2859460	NM_014140.4(SMARCAL1):c.230_237del (p.Ser77fs)	SMARCAL1 (S77fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2858738	NM_014140.4(SMARCAL1):c.1148-11C>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2858295	NM_014140.4(SMARCAL1):c.942C>T (p.Thr314=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2857813	NM_014140.4(SMARCAL1):c.2376C>G (p.Thr792=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2855980	NM_014140.4(SMARCAL1):c.2436C>A (p.Ile812=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2855959	NM_014140.4(SMARCAL1):c.1746A>G (p.Pro582=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2853748	NM_014140.4(SMARCAL1):c.798C>A (p.Pro266=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2853675	NM_014140.4(SMARCAL1):c.2200_2212del (p.His734fs)	SMARCAL1 (H734fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2852419	NM_014140.4(SMARCAL1):c.2529-4A>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2851880	NM_014140.4(SMARCAL1):c.2245-6del	SMARCAL1	Deletion (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2851527	NM_014140.4(SMARCAL1):c.2655A>G (p.Leu885=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2850448	NM_014140.4(SMARCAL1):c.2265C>A (p.Ile755=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2850173	NM_014140.4(SMARCAL1):c.2721C>T (p.Asp907=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2849652	NM_014140.4(SMARCAL1):c.1683C>T (p.Arg561=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2849037	NM_014140.4(SMARCAL1):c.429A>G (p.Leu143=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2847574	NM_014140.4(SMARCAL1):c.567G>A (p.Lys189=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2846592	NM_014140.4(SMARCAL1):c.1890G>A (p.Leu630=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2845246	NM_014140.4(SMARCAL1):c.907G>T (p.Glu303Ter)	SMARCAL1 (E303*)	Single nucleotide variant (nonsense)	Schimke immuno-osseous dysplasia	GPathogenic
Select item 2842756	NM_014140.4(SMARCAL1):c.2626-11C>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 2840143	NM_014140.4(SMARCAL1):c.812-2A>G	SMARCAL1	Single nucleotide variant (splice acceptor variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic

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