Related gene-specific medical variations for Gene (Select 6813) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2998072	NM_001171155.2(PET100):c.28-18C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	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 2969735	NM_001171155.2(PET100):c.27+11A>G	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2955635	NM_001171155.2(PET100):c.139-16G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894744	NM_001171155.2(PET100):c.204C>T (p.Asp68=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2889283	NM_001171155.2(PET100):c.114+1G>A	PET100, STXBP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2855483	NM_001171155.2(PET100):c.198T>C (p.Leu66=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2848577	NM_001171155.2(PET100):c.66G>A (p.Trp22Ter)	PET100, STXBP2 (W22*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2840364	NM_001171155.2(PET100):c.139-16G>T	STXBP2, PET100	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834765	NM_001171155.2(PET100):c.139-10C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833577	NM_001171155.2(PET100):c.114+16G>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823448	NM_001171155.2(PET100):c.138+16_138+18del	PET100, STXBP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2817074	NM_001171155.2(PET100):c.139-4C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804216	NM_001171155.2(PET100):c.139-7C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803292	NM_001171155.2(PET100):c.201C>A (p.Arg67=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2796295	NM_001171155.2(PET100):c.216C>T (p.Asn72=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2792182	NM_001171155.2(PET100):c.139-9C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788135	NM_001171155.2(PET100):c.28-2A>G	PET100, STXBP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2785732	NM_001171155.2(PET100):c.114+14G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782297	NM_001171155.2(PET100):c.138+15C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768356	NM_001171155.2(PET100):c.18G>A (p.Glu6=)	LOC130063380, PET100 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2762009	NM_001171155.2(PET100):c.27+10C>T	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758671	NM_001171155.2(PET100):c.114+18G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740392	NM_001171155.2(PET100):c.39C>A (p.Tyr13Ter)	PET100, STXBP2 (Y13*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2737063	NM_001171155.2(PET100):c.141T>C (p.Leu47=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2725483	NM_001171155.2(PET100):c.28-14C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721430	NM_001171155.2(PET100):c.207C>T (p.Ala69=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2711496	NM_001171155.2(PET100):c.27+15G>C	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698099	NM_001171155.2(PET100):c.115-1G>A	STXBP2, PET100	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2693526	NM_001171155.2(PET100):c.186G>A (p.Glu62=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2679092	NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)	STXBP2 (Y505* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679091	NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)	STXBP2 (S16* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679089	NM_006949.4(STXBP2):c.1538+1G>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679088	NM_006949.4(STXBP2):c.1356+1G>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679087	NM_006949.4(STXBP2):c.1107+2T>G	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679086	NM_006949.4(STXBP2):c.255_265del (p.Ala86fs)	STXBP2 (A54fs +2 more)	Deletion (frameshift variant +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679085	NM_006949.4(STXBP2):c.652dup (p.Ser218fs)	STXBP2 (S186fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679082	NM_006949.4(STXBP2):c.1044_1051del (p.His348fs)	STXBP2 (H316fs +3 more)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679081	NM_006949.4(STXBP2):c.429+1G>A	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679079	NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)	STXBP2 (I372fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679078	NM_006949.4(STXBP2):c.1610_1611dup (p.Val538fs)	STXBP2 (V506fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679076	NM_006949.4(STXBP2):c.430-1G>A	STXBP2	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 2679075	NM_006949.4(STXBP2):c.37+5G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679074	NM_006949.4(STXBP2):c.1411C>T (p.Gln471Ter)	STXBP2 (Q439* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679073	NM_006949.4(STXBP2):c.1179del (p.Leu394fs)	STXBP2 (L362fs +3 more)	Deletion (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679071	NM_006949.4(STXBP2):c.290dup (p.Thr98fs)	STXBP2 (T109fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2663198	NM_001171155.2(PET100):c.178C>T (p.Arg60Trp)	PET100, STXBP2 (R60W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2618290	NM_174895.3(PCP2):c.171C>G (p.Ser57Arg)	PCP2, STXBP2 (S41R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614692	NM_174895.3(PCP2):c.41C>G (p.Pro14Arg)	PCP2, STXBP2 (P14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599863	NM_174895.3(PCP2):c.358G>A (p.Ala120Thr)	PCP2, PET100 +1 more (A104T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2590658	NM_174895.3(PCP2):c.46G>A (p.Ala16Thr)	PCP2, STXBP2 (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2582623	NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs)	STXBP2 (R543fs +3 more)	Insertion (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2574320	NM_001171155.2(PET100):c.184G>T (p.Glu62Ter)	PET100, STXBP2 (E62*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2520892	NM_174895.3(PCP2):c.184G>A (p.Glu62Lys)	PCP2, STXBP2 (E46K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508692	NM_174895.3(PCP2):c.280G>A (p.Val94Met)	PCP2, STXBP2 (V94M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374396	NM_174895.3(PCP2):c.140C>A (p.Ala47Asp)	PCP2, STXBP2 (A31D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255714	NM_174895.3(PCP2):c.235G>A (p.Asp79Asn)	PCP2, STXBP2 (D63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232195	NM_001171155.2(PET100):c.160A>C (p.Lys54Gln)	STXBP2, PET100 (K54Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2149778	NM_001171155.2(PET100):c.173G>A (p.Arg58Gln)	PET100, STXBP2 (R58Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2110582	NM_001171155.2(PET100):c.179G>C (p.Arg60Pro)	PET100, STXBP2 (R60P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094060	NM_001171155.2(PET100):c.82G>C (p.Glu28Gln)	PET100, STXBP2 (E28Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2076947	NM_001171155.2(PET100):c.174G>A (p.Arg58=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2073645	NM_001171155.2(PET100):c.139C>T (p.Leu47Phe)	PET100, STXBP2 (L47F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2042220	NM_001171155.2(PET100):c.193C>T (p.Leu65Phe)	STXBP2, PET100 (L65F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2024359	NM_001171155.2(PET100):c.138+1G>T	PET100, STXBP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1963808	NM_001171155.2(PET100):c.172C>T (p.Arg58Trp)	PET100, STXBP2 (R58W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949336	NM_001171155.2(PET100):c.27+15G>A	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944652	NM_001171155.2(PET100):c.221G>A (p.Ter74=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1943498	NM_001171155.2(PET100):c.139-17C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933389	NM_001171155.2(PET100):c.179G>A (p.Arg60Gln)	PET100, STXBP2 (R60Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1919084	NM_001171155.2(PET100):c.114+7A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913947	NM_001171155.2(PET100):c.139-18C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895460	NM_001171155.2(PET100):c.115-3C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	Abnormality of the mitochondrion	GPathogenic
Select item 1695740	NM_001171155.2(PET100):c.200G>A (p.Arg67His)	PET100, STXBP2 (R67H)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GUncertain significance
Select item 1686017	NM_001171155.2(PET100):c.1A>G (p.Met1Val)	PET100, STXBP2 (M1V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GPathogenic
Select item 1663155	NM_001171155.2(PET100):c.115-9T>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615618	NM_001171155.2(PET100):c.138+11T>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1503159	NM_001171155.2(PET100):c.181C>T (p.Arg61Trp)	PET100, STXBP2 (R61W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483685	NM_001171155.2(PET100):c.118_119delinsTT (p.Glu40Leu)	PET100, STXBP2 (E40L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1458646	NM_001171155.2(PET100):c.1A>T (p.Met1Leu)	PET100, STXBP2 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1436166	NM_001171155.2(PET100):c.138+3A>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1419448	NM_001171155.2(PET100):c.185A>T (p.Glu62Val)	PET100, STXBP2 (E62V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1384124	NM_001171155.2(PET100):c.114+4G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	PET100-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1368798	NM_001171155.2(PET100):c.184GAG[1] (p.Glu63del)	PET100, STXBP2 (E63del)	Microsatellite (inframe_deletion +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GUncertain significance
Select item 1320991	NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)	STXBP2, PET100 (L66P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1299417	NM_006949.4(STXBP2):c.193C>T (p.Arg65Trp)	STXBP2 (R65W)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	Gnot provided
Select item 1283193	NC_000019.10:g.7636780C>A	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign
Select item 1274441	NM_001171155.2(PET100):c.28-123A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270479	NM_001171155.2(PET100):c.138+109A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225128	NM_001171155.2(PET100):c.114+75T>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219689	NM_001171155.2(PET100):c.138+26A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218913	NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)	PET100, STXBP2 (N25S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1212984	NM_001171155.2(PET100):c.139-64_139-63del	PET100, STXBP2	Deletion (intron variant)	not provided	GLikely benign
Select item 1211514	NM_001171155.2(PET100):c.139-161G>A	PET100, STXBP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1205108	NM_001171155.2(PET100):c.*54G>T	PET100, STXBP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200009	NM_001171155.2(PET100):c.115-73T>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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