SYNPO2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 150371	GRCh38/hg38 4q26(chr4:118858868-119856165)x3	C4orf3, FABP2 +22 more	Copy number gain	See cases	GLikely benign
Select item 2256036	NM_133477.3(SYNPO2):c.18T>A (p.Phe6Leu)	SYNPO2 (F6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279183	NM_133477.3(SYNPO2):c.68G>A (p.Gly23Asp)	SYNPO2 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323987	NM_133477.3(SYNPO2):c.251T>C (p.Ile84Thr)	SYNPO2 (I53T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329610	NM_133477.3(SYNPO2):c.328G>T (p.Gly110Trp)	SYNPO2 (G79W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233380	NM_133477.3(SYNPO2):c.468G>C (p.Leu156Phe)	SYNPO2 (L156F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493111	NM_133477.3(SYNPO2):c.498G>C (p.Arg166Ser)	SYNPO2 (R166S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550461	NM_133477.3(SYNPO2):c.592G>C (p.Glu198Gln)	SYNPO2 (E167Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3172885	NM_133477.3(SYNPO2):c.607C>G (p.Leu203Val)	SYNPO2 (L172V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172886	NM_133477.3(SYNPO2):c.615G>T (p.Gln205His)	SYNPO2 (Q205H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172888	NM_133477.3(SYNPO2):c.646G>A (p.Val216Met)	SYNPO2 (V185M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598052	NM_133477.3(SYNPO2):c.845C>T (p.Pro282Leu)	SYNPO2 (P251L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569923	NM_133477.3(SYNPO2):c.857T>C (p.Val286Ala)	SYNPO2 (V286A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172889	NM_133477.3(SYNPO2):c.859A>C (p.Ile287Leu)	SYNPO2 (I256L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274369	NM_133477.3(SYNPO2):c.869G>A (p.Cys290Tyr)	SYNPO2 (C290Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277405	NM_133477.3(SYNPO2):c.988T>C (p.Ser330Pro)	SYNPO2 (S299P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172890	NM_133477.3(SYNPO2):c.989C>T (p.Ser330Leu)	SYNPO2 (S330L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254468	NM_133477.3(SYNPO2):c.1004A>G (p.Gln335Arg)	SYNPO2 (Q304R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400089	NM_133477.3(SYNPO2):c.1019G>A (p.Arg340His)	SYNPO2 (R309H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323983	NM_133477.3(SYNPO2):c.1047C>A (p.His349Gln)	SYNPO2 (H318Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339443	NM_133477.3(SYNPO2):c.1076G>A (p.Arg359Lys)	SYNPO2 (R328K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323985	NM_133477.3(SYNPO2):c.1139C>T (p.Ala380Val)	SYNPO2 (A349V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776012	NM_133477.3(SYNPO2):c.1158T>G (p.Ala386=)	SYNPO2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2370519	NM_133477.3(SYNPO2):c.1162A>T (p.Asn388Tyr)	SYNPO2 (N357Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454830	NM_133477.3(SYNPO2):c.1201C>T (p.Arg401Cys)	SYNPO2 (R6C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543134	NM_133477.3(SYNPO2):c.1205G>A (p.Arg402Gln)	SYNPO2 (R371Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207492	NM_133477.3(SYNPO2):c.1304T>C (p.Val435Ala)	SYNPO2 (V435A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172862	NM_133477.3(SYNPO2):c.1370C>A (p.Thr457Lys)	SYNPO2 (T457K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172863	NM_133477.3(SYNPO2):c.1449G>A (p.Met483Ile)	SYNPO2 (M452I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323990	NM_133477.3(SYNPO2):c.1456G>A (p.Asp486Asn)	SYNPO2 (D455N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617848	NM_133477.3(SYNPO2):c.1517C>T (p.Thr506Ile)	SYNPO2 (T506I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519119	NM_133477.3(SYNPO2):c.1523A>C (p.Gln508Pro)	SYNPO2 (Q113P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516543	NM_133477.3(SYNPO2):c.1534G>A (p.Asp512Asn)	SYNPO2 (D512N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412279	NM_133477.3(SYNPO2):c.1594A>G (p.Thr532Ala)	SYNPO2 (T532A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516545	NM_133477.3(SYNPO2):c.1648G>A (p.Val550Met)	SYNPO2 (V550M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323981	NM_133477.3(SYNPO2):c.1674T>A (p.Ser558Arg)	SYNPO2 (S558R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288390	NM_133477.3(SYNPO2):c.1763C>T (p.Thr588Met)	SYNPO2 (T193M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258712	NM_133477.3(SYNPO2):c.1780G>T (p.Gly594Trp)	SYNPO2 (G563W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541209	NM_133477.3(SYNPO2):c.1798G>T (p.Ala600Ser)	SYNPO2 (A600S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172864	NM_133477.3(SYNPO2):c.1858C>G (p.Pro620Ala)	SYNPO2 (P225A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172865	NM_133477.3(SYNPO2):c.1882C>A (p.Pro628Thr)	SYNPO2 (P233T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323979	NM_133477.3(SYNPO2):c.1883C>A (p.Pro628His)	SYNPO2 (P233H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172866	NM_133477.3(SYNPO2):c.2114G>A (p.Ser705Asn)	SYNPO2 (S674N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341452	NM_133477.3(SYNPO2):c.2170G>A (p.Gly724Arg)	SYNPO2 (G329R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172867	NM_133477.3(SYNPO2):c.2252C>T (p.Ala751Val)	SYNPO2 (A356V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340604	NM_133477.3(SYNPO2):c.2315C>T (p.Pro772Leu)	SYNPO2 (P772L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299649	NM_133477.3(SYNPO2):c.2348G>C (p.Gly783Ala)	SYNPO2 (G388A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323182	NM_133477.3(SYNPO2):c.2354C>A (p.Ala785Asp)	SYNPO2 (A754D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323986	NM_133477.3(SYNPO2):c.2396A>T (p.Lys799Met)	SYNPO2 (K799M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388519	NM_133477.3(SYNPO2):c.2425G>T (p.Ala809Ser)	SYNPO2 (A414S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248609	NM_133477.3(SYNPO2):c.2447C>T (p.Ala816Val)	SYNPO2 (A421V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172868	NM_133477.3(SYNPO2):c.2480C>T (p.Pro827Leu)	SYNPO2 (P796L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172869	NM_133477.3(SYNPO2):c.2527A>G (p.Lys843Glu)	SYNPO2 (K448E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229357	NM_133477.3(SYNPO2):c.2566C>T (p.Pro856Ser)	SYNPO2 (P825S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172870	NM_133477.3(SYNPO2):c.2588A>G (p.Asn863Ser)	SYNPO2 (N832S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784043	NM_133477.3(SYNPO2):c.2659G>A (p.Val887Met)	SYNPO2 (V887M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3323984	NM_133477.3(SYNPO2):c.2665G>A (p.Asp889Asn)	SYNPO2 (D494N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323989	NM_133477.3(SYNPO2):c.2696G>T (p.Arg899Leu)	SYNPO2 (R504L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172871	NM_133477.3(SYNPO2):c.2789C>T (p.Ser930Leu)	SYNPO2 (S899L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172872	NM_133477.3(SYNPO2):c.2793G>T (p.Pro931=)	SYNPO2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3172873	NM_133477.3(SYNPO2):c.2906C>G (p.Pro969Arg)	SYNPO2 (P938R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342334	NM_133477.3(SYNPO2):c.2918A>G (p.Asn973Ser)	SYNPO2 (N578S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400676	NM_133477.3(SYNPO2):c.2948A>G (p.Asp983Gly)	SYNPO2 (D952G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172874	NM_133477.3(SYNPO2):c.3028C>T (p.Pro1010Ser)	SYNPO2 (P615S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253554	NM_133477.3(SYNPO2):c.3031G>C (p.Val1011Leu)	SYNPO2 (V1011L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293277	NM_133477.3(SYNPO2):c.3050C>G (p.Thr1017Arg)	SYNPO2 (T1017R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323988	NM_133477.3(SYNPO2):c.3070G>A (p.Val1024Met)	SYNPO2 (V1024M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172875	NM_133477.3(SYNPO2):c.3085G>A (p.Ala1029Thr)	SYNPO2 (A634T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238167	NM_133477.3(SYNPO2):c.3103T>A (p.Ser1035Thr)	SYNPO2 (S1004T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247072	NM_133477.3(SYNPO2):c.3134G>A (p.Ser1045Asn)	SYNPO2 (S1014N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172876	NM_133477.3(SYNPO2):c.3136G>A (p.Ala1046Thr)	SYNPO2 (A651T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776013	NM_133477.3(SYNPO2):c.3171A>C (p.Pro1057=)	SYNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2329514	NM_133477.3(SYNPO2):c.3253G>A (p.Glu1085Lys)	SYNPO2 (E1054K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458736	NM_133477.3(SYNPO2):c.3262C>T (p.Arg1088Cys)	SYNPO2 (R1057C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172877	NM_133477.3(SYNPO2):c.3298C>G (p.Pro1100Ala)	SYNPO2 (P1069A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172878	NM_133477.3(SYNPO2):c.3299C>T (p.Pro1100Leu)	SYNPO2 (P102S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272503	NM_133477.3(SYNPO2):c.3299C>G (p.Pro1100Arg)	SYNPO2 (P102A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370283	NM_133477.3(SYNPO2):c.3367G>A (p.Glu1123Lys)	SYNPO2 (E1123K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172879	NM_133477.3(SYNPO2):c.3385C>G (p.Pro1129Ala)	SYNPO2 (P1098A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223208	NM_133477.3(SYNPO2):c.3388A>G (p.Thr1130Ala)	SYNPO2 (T1099A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786519	NM_133477.3(SYNPO2):c.3400G>A (p.Ala1134Thr)	SYNPO2 (A1103T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3323982	NM_133477.3(SYNPO2):c.3444A>T (p.Gln1148His)	SYNPO2 (Q753H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172880	NM_133477.3(SYNPO2):c.3446C>A (p.Pro1149His)	SYNPO2 (P1118H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387179	NM_133477.3(SYNPO2):c.3467T>C (p.Ile1156Thr)	SYNPO2 (I761T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172881	NM_133477.3(SYNPO2):c.3529A>C (p.Asn1177His)	SYNPO2 (N1146H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172882	NM_133477.3(SYNPO2):c.3544T>A (p.Tyr1182Asn)	SYNPO2 (Y787N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371909	NM_133477.3(SYNPO2):c.3590A>C (p.Gln1197Pro)	SYNPO2 (Q802P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172883	NM_133477.3(SYNPO2):c.3605C>T (p.Thr1202Ile)	SYNPO2 (T1171I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288466	NM_133477.3(SYNPO2):c.3681A>C (p.Arg1227Ser)	SYNPO2 (R1227S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786520	NM_133477.3(SYNPO2):c.3698T>C (p.Met1233Thr)	SYNPO2 (M1233T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781847	NM_133477.3(SYNPO2):c.3744C>T (p.Tyr1248=)	SYNPO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2490514	NM_133477.3(SYNPO2):c.3752A>G (p.Asn1251Ser)	SYNPO2 (N1220S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459634	NM_133477.3(SYNPO2):c.3755C>T (p.Pro1252Leu)	SYNPO2 (P857L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172884	NM_133477.3(SYNPO2):c.3776G>A (p.Arg1259His)	SYNPO2 (R1228H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic

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