ClinVar for MedGen (Select 416514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022311	NM_006949.4(STXBP2):c.1539-2A>G	STXBP2	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3021318	NM_006949.4(STXBP2):c.342G>C (p.Leu114=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 3014147	NM_006949.4(STXBP2):c.1596C>T (p.Pro532=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 3011294	NM_006949.4(STXBP2):c.1107+22del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GBenign
Select item 3008272	NM_006949.4(STXBP2):c.794+19C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 3006649	NM_006949.4(STXBP2):c.1170T>C (p.Val390=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 3003519	NM_006949.4(STXBP2):c.537G>A (p.Leu179=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 3001514	NM_006949.4(STXBP2):c.664-9C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2998485	NM_006949.4(STXBP2):c.477C>G (p.Pro159=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2998300	NM_006949.4(STXBP2):c.16C>T (p.Leu6=)	STXBP2	Single nucleotide variant (synonymous variant +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2997835	NM_006949.4(STXBP2):c.30G>T (p.Val10=)	STXBP2	Single nucleotide variant (synonymous variant +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2991171	NM_006949.4(STXBP2):c.1027-14C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2990349	NM_006949.4(STXBP2):c.663+8G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2988914	NM_006949.4(STXBP2):c.1026+8C>G	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2988204	NM_006949.4(STXBP2):c.1538+14G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2987104	NM_006949.4(STXBP2):c.1281G>A (p.Gln427=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2986390	NM_006949.4(STXBP2):c.507C>A (p.Leu169=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2984825	NM_006949.4(STXBP2):c.961-16C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2984359	NM_006949.4(STXBP2):c.807C>T (p.Thr269=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2981990	NM_006949.4(STXBP2):c.1108-11C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2980233	NM_006949.4(STXBP2):c.132C>A (p.Cys44Ter)	STXBP2 (C12* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 2977610	NM_006949.4(STXBP2):c.1512C>G (p.Pro504=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2970357	NM_006949.4(STXBP2):c.663+7G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2967801	NM_006949.4(STXBP2):c.1246+11del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GBenign
Select item 2964254	NM_006949.4(STXBP2):c.1344C>T (p.Val448=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2962979	NM_006949.4(STXBP2):c.1696+15C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2961628	NM_006949.4(STXBP2):c.1017G>A (p.Glu339=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2961426	NM_006949.4(STXBP2):c.1027-15C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2960840	NM_006949.4(STXBP2):c.1458C>G (p.Ala486=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2960109	NM_006949.4(STXBP2):c.170-15del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2959279	NM_006949.4(STXBP2):c.825G>A (p.Arg275=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2957194	NM_006949.4(STXBP2):c.730C>T (p.Leu244=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2956415	NM_006949.4(STXBP2):c.1593C>T (p.Gly531=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2955969	NM_006949.4(STXBP2):c.567C>A (p.Ile189=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2955464	NM_006949.4(STXBP2):c.984G>A (p.Gln328=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2919000	NM_006949.4(STXBP2):c.1386G>C (p.Pro462=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2918564	NM_006949.4(STXBP2):c.430-15C>G	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2912747	NM_006949.4(STXBP2):c.37+14C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2910450	NM_006949.4(STXBP2):c.386C>T (p.Thr129Met)	STXBP2 (T126M +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2909908	NM_006949.4(STXBP2):c.246+19G>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2909901	NM_006949.4(STXBP2):c.326-12G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2905356	NM_006949.4(STXBP2):c.408C>G (p.Ala136=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2901870	NM_006949.4(STXBP2):c.246+15G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2899461	NM_006949.4(STXBP2):c.1108-19G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2899306	NM_006949.4(STXBP2):c.1356+1G>T	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2896100	NM_006949.4(STXBP2):c.663+9G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2893569	NM_006949.4(STXBP2):c.795-20G>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2892153	NM_006949.4(STXBP2):c.903-11C>G	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2888169	NM_006949.4(STXBP2):c.1357-4G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2887099	NM_006949.4(STXBP2):c.1356+19T>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2886630	NM_006949.4(STXBP2):c.1053T>C (p.Asp351=)	STXBP2	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2881509	NM_006949.4(STXBP2):c.1247-19G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2881304	NM_006949.4(STXBP2):c.1696+9C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2881000	NM_006949.4(STXBP2):c.37+19C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2880304	NM_006949.4(STXBP2):c.903-18G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2878633	NM_006949.4(STXBP2):c.429+9_429+16del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2878168	NM_006949.4(STXBP2):c.1416G>C (p.Leu472=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2877555	NM_006949.4(STXBP2):c.37+15G>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2875665	NM_006949.4(STXBP2):c.902+15G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2874649	NM_006949.4(STXBP2):c.1503C>A (p.Asp501Glu)	STXBP2 (D469E +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2874385	NM_006949.4(STXBP2):c.1218C>T (p.Val406=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2873941	NM_006949.4(STXBP2):c.1524C>T (p.Ser508=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2870387	NM_006949.4(STXBP2):c.960+11A>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2868387	NM_006949.4(STXBP2):c.300A>G (p.Lys100=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2867549	NM_006949.4(STXBP2):c.1698C>T (p.Gly566=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2867198	NM_006949.4(STXBP2):c.1357-13G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2866216	NM_006949.4(STXBP2):c.441C>G (p.Leu147=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2864392	NM_006949.4(STXBP2):c.948G>C (p.Leu316=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2864207	NM_006949.4(STXBP2):c.804C>T (p.Thr268=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2863903	NM_006949.4(STXBP2):c.741C>G (p.Leu247=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2863443	NM_006949.4(STXBP2):c.855T>C (p.Asp285=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2862973	NM_006949.4(STXBP2):c.578+17G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2861214	NM_006949.4(STXBP2):c.1697-4A>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2858675	NM_006949.4(STXBP2):c.1049C>T (p.Ala350Val)	STXBP2 (A350V +3 more)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2858228	NM_006949.4(STXBP2):c.1247-11C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2857362	NM_006949.4(STXBP2):c.1107+1G>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2856774	NM_006949.4(STXBP2):c.169+11G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2856350	NM_006949.4(STXBP2):c.579-8C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2855079	NM_006949.4(STXBP2):c.1101G>A (p.Val367=)	STXBP2	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2854118	NM_006949.4(STXBP2):c.291C>T (p.Phe97=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2851739	NM_006949.4(STXBP2):c.238A>T (p.Thr80Ser)	STXBP2 (T80S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2849494	NM_006949.4(STXBP2):c.1554C>T (p.His518=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2846930	NM_006949.4(STXBP2):c.1364_1377del (p.Gly455fs)	STXBP2 (G466fs +3 more)	Deletion (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 2845426	NM_006949.4(STXBP2):c.1149G>A (p.Lys383=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2845123	NM_006949.4(STXBP2):c.1453-15C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2844950	NM_006949.4(STXBP2):c.996G>A (p.Lys332=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2844461	NM_006949.4(STXBP2):c.1453-19C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2842810	NM_006949.4(STXBP2):c.708A>G (p.Ala236=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2841439	NM_006949.4(STXBP2):c.1696+13G>C	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2841177	NM_006949.4(STXBP2):c.1611T>C (p.Tyr537=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2840748	NM_006949.4(STXBP2):c.34dup (p.Glu12fs)	STXBP2 (E12fs)	Duplication (frameshift variant +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 2840543	NM_006949.4(STXBP2):c.1027-11G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2840036	NM_006949.4(STXBP2):c.897G>T (p.Val299=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2839392	NM_006949.4(STXBP2):c.1356+25del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GBenign
Select item 2839239	NM_006949.4(STXBP2):c.1242G>C (p.Arg414=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2838764	NM_006949.4(STXBP2):c.714C>T (p.Asp238=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2838562	NM_006949.4(STXBP2):c.1608G>A (p.Val536=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2838067	NM_006949.4(STXBP2):c.903-11C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2837323	NM_006949.4(STXBP2):c.169+19_169+44del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign
Select item 2836181	NM_006949.4(STXBP2):c.960+13C>G	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely benign

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