100131801[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 151458	GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3	CAMSAP3, LOC121627854 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1217167	NC_000019.10:g.7629463C>T	LOC130063379, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683454	NM_001171155.1(PET100):c.-327G>A	LOC130063379, PET100 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239797	NC_000019.10:g.7629652A>G	PET100	Single nucleotide variant	not provided	GBenign
Select item 675569	NM_001171155.1(PET100):c.-135G>T	PET100	Single nucleotide variant	not provided	GBenign
Select item 1270843	NC_000019.10:g.7629716C>G	PET100	Single nucleotide variant	not provided	GBenign
Select item 676762	NM_001171155.1(PET100):c.-58T>C	PET100	Single nucleotide variant	not provided	GBenign
Select item 387071	NM_001171155.2(PET100):c.-19G>C	PET100, STXBP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 510984	NM_001171155.2(PET100):c.-3G>A	PET100, STXBP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1686017	NM_001171155.2(PET100):c.1A>G (p.Met1Val)	STXBP2, PET100 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
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 125441	NM_001171155.2(PET100):c.3G>C (p.Met1Ile)	PET100, STXBP2 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
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 2967109	NM_001171155.2(PET100):c.23_27+4del	LOC130063380, PET100 +1 more	Deletion (splice donor variant)	not provided	GLikely pathogenic
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 2969735	NM_001171155.2(PET100):c.27+11A>G	LOC130063380, PET100 +1 more	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 2711496	NM_001171155.2(PET100):c.27+15G>C	LOC130063380, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 674145	NM_001171155.2(PET100):c.28-193G>C	PET100, STXBP2	Single nucleotide variant (intron 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 2998072	NM_001171155.2(PET100):c.28-18C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	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 2788135	NM_001171155.2(PET100):c.28-2A>G	PET100, STXBP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2848577	NM_001171155.2(PET100):c.66G>A (p.Trp22Ter)	PET100, STXBP2 (W22*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1218913	NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)	PET100, STXBP2 (N25S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GConflicting classifications of pathogenicity
Select item 2094060	NM_001171155.2(PET100):c.82G>C (p.Glu28Gln)	STXBP2, PET100 (E28Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 235437	NM_001171155.2(PET100):c.82G>A (p.Glu28Lys)	PET100, STXBP2 (E28K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely 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 1384124	NM_001171155.2(PET100):c.114+4G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919084	NM_001171155.2(PET100):c.114+7A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785732	NM_001171155.2(PET100):c.114+14G>A	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 2758671	NM_001171155.2(PET100):c.114+18G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225128	NM_001171155.2(PET100):c.114+75T>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200009	NM_001171155.2(PET100):c.115-73T>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679496	NM_001171155.2(PET100):c.115-28G>A	STXBP2, PET100	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663155	NM_001171155.2(PET100):c.115-9T>C	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 2698099	NM_001171155.2(PET100):c.115-1G>A	PET100, STXBP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2024359	NM_001171155.2(PET100):c.138+1G>T	PET100, STXBP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 2823448	NM_001171155.2(PET100):c.138+16_138+18del	PET100, STXBP2	Microsatellite (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 2782297	NM_001171155.2(PET100):c.138+15C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219689	NM_001171155.2(PET100):c.138+26A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270479	NM_001171155.2(PET100):c.138+109A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683460	NM_001171155.2(PET100):c.138+245C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683462	NM_001171155.2(PET100):c.139-221G>A	PET100, STXBP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 1181840	NM_001171155.2(PET100):c.139-99G>A	STXBP2, PET100	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212984	NM_001171155.2(PET100):c.139-64_139-63del	PET100, STXBP2	Deletion (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 1943498	NM_001171155.2(PET100):c.139-17C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	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 2840364	NM_001171155.2(PET100):c.139-16G>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385672	NM_001171155.2(PET100):c.139-15C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 517815	NM_001171155.2(PET100):c.139-11_139-9del	PET100, STXBP2	Deletion (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 12 +2 more	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 2792182	NM_001171155.2(PET100):c.139-9C>T	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 2817074	NM_001171155.2(PET100):c.139-4C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	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 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 128250	NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)	PET100, STXBP2 (Q48*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
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 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 2149778	NM_001171155.2(PET100):c.173G>A (p.Arg58Gln)	PET100, STXBP2 (R58Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 1933389	NM_001171155.2(PET100):c.179G>A (p.Arg60Gln)	PET100, STXBP2 (R60Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 1419448	NM_001171155.2(PET100):c.185A>T (p.Glu62Val)	PET100, STXBP2 (E62V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2042220	NM_001171155.2(PET100):c.193C>T (p.Leu65Phe)	PET100, STXBP2 (L65F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320991	NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)	PET100, STXBP2 (L66P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 383457	NM_001171155.2(PET100):c.199C>T (p.Arg67Cys)	PET100, STXBP2 (R67C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 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 512138	NM_001171155.2(PET100):c.201C>T (p.Arg67=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely 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 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 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 778809	NM_001171155.2(PET100):c.218C>G (p.Ser73Cys)	PET100, STXBP2 (S73C)	Single nucleotide variant (missense variant +1 more)	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 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 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 1188512	NM_001171155.2(PET100):c.*236C>T	PCP2, PET100 +1 more (R103Q +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
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 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic

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