ClinVar for Gene (Select 6813) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1214

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3584220	NM_006949.4(STXBP2):c.1648_1651dup (p.Tyr551fs)	STXBP2 (Y519fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3584219	NM_006949.4(STXBP2):c.426_429+13del	STXBP2	Deletion (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3584218	NM_001171155.2(PET100):c.205G>T (p.Ala69Ser)	PET100, STXBP2 (A69S)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584217	NM_001171155.2(PET100):c.205G>A (p.Ala69Thr)	PET100, STXBP2 (A69T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584216	NM_001171155.2(PET100):c.154G>C (p.Glu52Gln)	PET100, STXBP2 (E52Q)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584215	NM_001171155.2(PET100):c.140T>G (p.Leu47Arg)	PET100, STXBP2 (L47R)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584213	NM_001171155.2(PET100):c.49C>T (p.Pro17Ser)	PET100, STXBP2 (P17S)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584212	NM_001171155.2(PET100):c.28A>G (p.Met10Val)	PET100, STXBP2 (M10V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584211	NM_001171155.2(PET100):c.27+4A>G	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584210	NM_001171155.2(PET100):c.20T>C (p.Ile7Thr)	LOC130063380, PET100 +1 more (I7T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GUncertain significance
Select item 3584209	NM_001171155.2(PET100):c.3G>A (p.Met1Ile)	PET100, STXBP2 (M1I)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex 4 deficiency, nuclear type 12	GLikely pathogenic
Select item 3451007	NM_006949.4(STXBP2):c.1349A>T (p.Asn450Ile)	STXBP2 (N461I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3451006	NM_006949.4(STXBP2):c.675A>T (p.Lys225Asn)	STXBP2 (K193N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3451005	NM_006949.4(STXBP2):c.1763A>C (p.Glu588Ala)	STXBP2 (E588A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3451004	NM_006949.4(STXBP2):c.1019T>C (p.Leu340Pro)	STXBP2 (L308P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3451003	NM_006949.4(STXBP2):c.159G>C (p.Glu53Asp)	STXBP2 (E21D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3415916	NM_174895.3(PCP2):c.96C>G (p.His32Gln)	PCP2, STXBP2 (H32Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3415915	NM_174895.3(PCP2):c.55G>T (p.Gly19Cys)	PCP2, STXBP2 (G3C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3415914	NM_174895.3(PCP2):c.371G>A (p.Arg124His)	PCP2, PET100 +1 more (R124H +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3415913	NM_174895.3(PCP2):c.226C>T (p.Arg76Cys)	PCP2, STXBP2 (R60C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3415912	NM_174895.3(PCP2):c.269G>T (p.Gly90Val)	PCP2, STXBP2 (G90V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3391328	NM_006949.4(STXBP2):c.823C>T (p.Arg275Trp)	STXBP2 (R243W +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 3380571	NM_006949.4(STXBP2):c.1520G>A (p.Ser507Asn)	STXBP2 (S475N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380570	NM_006949.4(STXBP2):c.1494C>A (p.Phe498Leu)	STXBP2 (F466L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380569	NM_006949.4(STXBP2):c.687G>C (p.Gln229His)	STXBP2 (Q197H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366656	NM_006949.4(STXBP2):c.971A>G (p.Lys324Arg)	STXBP2 (K292R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3343534	NM_006949.4(STXBP2):c.523C>G (p.Gln175Glu)	STXBP2 (Q143E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337640	NM_006949.4(STXBP2):c.703C>T (p.Arg235Trp)	STXBP2 (R203W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3305228	NM_174895.3(PCP2):c.109C>T (p.Arg37Trp)	PCP2, STXBP2 (R21W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305227	NM_174895.3(PCP2):c.182C>T (p.Pro61Leu)	PCP2, STXBP2 (P45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305226	NM_174895.3(PCP2):c.205A>G (p.Met69Val)	PCP2, STXBP2 (M53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305225	NM_174895.3(PCP2):c.49G>C (p.Glu17Gln)	PCP2, STXBP2 (E17Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248484	NC_000019.9:g.(?_7694720)_(7712696_?)del	PCP2, PET100 +1 more	Deletion	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	ARHGEF18, CAMSAP3 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3240554	NM_006949.4(STXBP2):c.253C>T (p.Gln85Ter)	STXBP2 (Q53* +2 more)	Single nucleotide variant (nonsense +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3240553	NM_006949.4(STXBP2):c.578+2T>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3240552	NM_006949.4(STXBP2):c.229_239delinsG (p.Leu77fs)	STXBP2 (L45fs +1 more)	Indel (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3240551	NM_006949.4(STXBP2):c.1538+2T>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3236421	NM_006949.4(STXBP2):c.1424G>A (p.Trp475Ter)	STXBP2 (W443* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3235787	NM_006949.4(STXBP2):c.1108-482T>G	STXBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3210423	NM_174895.3(PCP2):c.49G>A (p.Glu17Lys)	PCP2, STXBP2 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210422	NM_174895.3(PCP2):c.244C>T (p.Arg82Cys)	PCP2, STXBP2 (R66C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210421	NM_174895.3(PCP2):c.168G>C (p.Gln56His)	PCP2, STXBP2 (Q56H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171786	NM_006949.4(STXBP2):c.589G>A (p.Asp197Asn)	STXBP2 (D165N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171784	NM_006949.4(STXBP2):c.343T>C (p.Phe115Leu)	STXBP2 (F112L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069062	NM_006949.4(STXBP2):c.224_227del (p.Tyr75fs)	STXBP2 (Y43fs +1 more)	Microsatellite (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis	GPathogenic
Select item 3052220	NM_006949.4(STXBP2):c.1247-30_1247-3dup	STXBP2	Duplication (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3041552	NM_006949.4(STXBP2):c.578+8_578+9insGCC	STXBP2	Insertion (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3041176	NM_006949.4(STXBP2):c.578+8_578+9insG	STXBP2	Insertion (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3040836	NM_006949.4(STXBP2):c.578+7del	STXBP2	Deletion (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3033352	NM_006949.4(STXBP2):c.578+7A>C	STXBP2	Single nucleotide variant (intron variant)	STXBP2-related disorder	GLikely benign
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 2998072	NM_001171155.2(PET100):c.28-18C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	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 2990474	NM_001171155.2(PET100):c.27+14G>A	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	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 2969735	NM_001171155.2(PET100):c.27+11A>G	STXBP2, LOC130063380 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967801	NM_006949.4(STXBP2):c.1246+11del	STXBP2	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GBenign
Select item 2967109	NM_001171155.2(PET100):c.23_27+4del	LOC130063380, PET100 +1 more	Deletion (splice donor variant)	not provided	GLikely pathogenic
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 2955635	NM_001171155.2(PET100):c.139-16G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	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

<< First< Prev

Page of 13