GPATCH8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2207198	NM_001002909.4(GPATCH8):c.4505C>T (p.Thr1502Met)	GPATCH8 (T1424M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295562	NM_001002909.4(GPATCH8):c.4330G>A (p.Ala1444Thr)	GPATCH8 (A1419T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464281	NM_001002909.4(GPATCH8):c.4188C>G (p.His1396Gln)	GPATCH8 (H1318Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723189	NM_001002909.4(GPATCH8):c.4174G>A (p.Gly1392Ser)	GPATCH8 (G1314S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3282088	NM_001002909.4(GPATCH8):c.4117A>G (p.Thr1373Ala)	GPATCH8 (T1295A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319249	NM_001002909.4(GPATCH8):c.4075A>C (p.Ile1359Leu)	GPATCH8 (I1334L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101199	NM_001002909.4(GPATCH8):c.3984G>C (p.Gln1328His)	GPATCH8 (Q1303H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477269	NM_001002909.4(GPATCH8):c.3788G>C (p.Gly1263Ala)	GPATCH8 (G1185A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101198	NM_001002909.4(GPATCH8):c.3754A>T (p.Thr1252Ser)	GPATCH8 (T1174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290451	NM_001002909.4(GPATCH8):c.3554G>A (p.Ser1185Asn)	GPATCH8 (S1185N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522938	NM_001002909.4(GPATCH8):c.3544C>T (p.Pro1182Ser)	GPATCH8 (P1104S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385951	NM_001002909.4(GPATCH8):c.3510A>T (p.Glu1170Asp)	GPATCH8 (E1092D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533545	NM_001002909.4(GPATCH8):c.3503G>T (p.Arg1168Met)	GPATCH8 (R1168M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346041	NM_001002909.4(GPATCH8):c.3473A>C (p.Asn1158Thr)	GPATCH8 (N1133T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101197	NM_001002909.4(GPATCH8):c.3464G>A (p.Arg1155Gln)	GPATCH8 (R1130Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245227	NM_001002909.4(GPATCH8):c.3461C>T (p.Thr1154Ile)	GPATCH8 (T1129I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282087	NM_001002909.4(GPATCH8):c.3451C>T (p.Leu1151Phe)	GPATCH8 (L1073F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101196	NM_001002909.4(GPATCH8):c.3433C>A (p.Leu1145Ile)	GPATCH8 (L1067I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101195	NM_001002909.4(GPATCH8):c.3419G>T (p.Gly1140Val)	GPATCH8 (G1062V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489582	NM_001002909.4(GPATCH8):c.3375C>A (p.Asp1125Glu)	GPATCH8 (D1125E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396358	NM_001002909.4(GPATCH8):c.3253A>G (p.Lys1085Glu)	GPATCH8 (K1007E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523371	NM_001002909.4(GPATCH8):c.3197A>G (p.Gln1066Arg)	GPATCH8 (Q1041R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524949	NM_001002909.4(GPATCH8):c.3185G>A (p.Gly1062Asp)	GPATCH8 (G984D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101194	NM_001002909.4(GPATCH8):c.3172A>C (p.Ser1058Arg)	GPATCH8 (S1033R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357231	NM_001002909.4(GPATCH8):c.3158G>A (p.Gly1053Asp)	GPATCH8 (G1053D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101192	NM_001002909.4(GPATCH8):c.3137G>A (p.Gly1046Asp)	GPATCH8 (G968D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282089	NM_001002909.4(GPATCH8):c.3095G>A (p.Arg1032His)	GPATCH8 (R1007H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101191	NM_001002909.4(GPATCH8):c.3080G>A (p.Arg1027His)	GPATCH8 (R1027H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552804	NM_001002909.4(GPATCH8):c.3065G>A (p.Arg1022His)	GPATCH8 (R944H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101190	NM_001002909.4(GPATCH8):c.3055C>G (p.His1019Asp)	GPATCH8 (H941D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101189	NM_001002909.4(GPATCH8):c.3037G>C (p.Glu1013Gln)	GPATCH8 (E988Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618968	NM_001002909.4(GPATCH8):c.2996C>T (p.Pro999Leu)	GPATCH8 (P921L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461884	NM_001002909.4(GPATCH8):c.2968C>T (p.Arg990Trp)	GPATCH8 (R912W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101188	NM_001002909.4(GPATCH8):c.2951G>A (p.Arg984Gln)	GPATCH8 (R984Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162609	NM_001002909.4(GPATCH8):c.2935G>C (p.Ala979Pro)	GPATCH8 (A979P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2223717	NM_001002909.4(GPATCH8):c.2915G>A (p.Arg972Gln)	GPATCH8 (R894Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282085	NM_001002909.4(GPATCH8):c.2906G>A (p.Arg969Gln)	GPATCH8 (R969Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276475	NM_001002909.4(GPATCH8):c.2900G>A (p.Arg967His)	GPATCH8 (R889H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515700	NM_001002909.4(GPATCH8):c.2881C>T (p.Arg961Cys)	GPATCH8 (R883C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534341	NM_001002909.4(GPATCH8):c.2858G>A (p.Arg953His)	GPATCH8 (R953H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228106	NM_001002909.4(GPATCH8):c.2853A>C (p.Arg951Ser)	GPATCH8 (R873S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217413	NM_001002909.4(GPATCH8):c.2840G>A (p.Arg947Gln)	GPATCH8 (R869Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411376	NM_001002909.4(GPATCH8):c.2800G>A (p.Asp934Asn)	GPATCH8 (D934N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597493	NM_001002909.4(GPATCH8):c.2794G>A (p.Asp932Asn)	GPATCH8 (D854N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393200	NM_001002909.4(GPATCH8):c.2792C>A (p.Ser931Tyr)	GPATCH8 (S906Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393199	NM_001002909.4(GPATCH8):c.2791T>G (p.Ser931Ala)	GPATCH8 (S906A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101187	NM_001002909.4(GPATCH8):c.2789C>T (p.Ser930Phe)	GPATCH8 (S852F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371221	NM_001002909.4(GPATCH8):c.2719C>T (p.Arg907Cys)	GPATCH8 (R829C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101186	NM_001002909.4(GPATCH8):c.2615G>C (p.Ser872Thr)	GPATCH8 (S794T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101185	NM_001002909.4(GPATCH8):c.2599C>T (p.Arg867Trp)	GPATCH8 (R867W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779022	NM_001002909.4(GPATCH8):c.2591G>A (p.Arg864His)	GPATCH8 (R839H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2375244	NM_001002909.4(GPATCH8):c.2590C>T (p.Arg864Cys)	GPATCH8 (R786C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516269	NM_001002909.4(GPATCH8):c.2588A>G (p.His863Arg)	GPATCH8 (H785R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282093	NM_001002909.4(GPATCH8):c.2576G>T (p.Arg859Leu)	GPATCH8 (R781L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282091	NM_001002909.4(GPATCH8):c.2567C>T (p.Ser856Phe)	GPATCH8 (S831F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276251	NM_001002909.4(GPATCH8):c.2546A>G (p.His849Arg)	GPATCH8 (H849R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276250	NM_001002909.4(GPATCH8):c.2531A>G (p.Asp844Gly)	GPATCH8 (D766G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101184	NM_001002909.4(GPATCH8):c.2467G>A (p.Ala823Thr)	GPATCH8 (A745T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301287	NM_001002909.4(GPATCH8):c.2416C>T (p.Arg806Trp)	GPATCH8 (R728W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235852	NM_001002909.4(GPATCH8):c.2267G>A (p.Arg756Gln)	GPATCH8 (R678Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467858	NM_001002909.4(GPATCH8):c.2243G>A (p.Arg748Gln)	GPATCH8 (R748Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468512	NM_001002909.4(GPATCH8):c.2241G>T (p.Arg747Ser)	GPATCH8 (R669S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101183	NM_001002909.4(GPATCH8):c.2240G>A (p.Arg747Lys)	GPATCH8 (R722K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407581	NM_001002909.4(GPATCH8):c.2225C>G (p.Ala742Gly)	GPATCH8 (A664G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101182	NM_001002909.4(GPATCH8):c.2224G>A (p.Ala742Thr)	GPATCH8 (A717T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282090	NM_001002909.4(GPATCH8):c.2213G>A (p.Ser738Asn)	GPATCH8 (S660N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101181	NM_001002909.4(GPATCH8):c.2196A>T (p.Lys732Asn)	GPATCH8 (K707N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101180	NM_001002909.4(GPATCH8):c.2157T>G (p.Asn719Lys)	GPATCH8 (N641K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519510	NM_001002909.4(GPATCH8):c.2147G>A (p.Arg716Gln)	GPATCH8 (R638Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101179	NM_001002909.4(GPATCH8):c.2132G>A (p.Arg711His)	GPATCH8 (R686H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537139	NM_001002909.4(GPATCH8):c.2066G>A (p.Arg689His)	GPATCH8 (R689H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387028	NM_001002909.4(GPATCH8):c.2065C>T (p.Arg689Cys)	GPATCH8 (R689C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774519	NM_001002909.4(GPATCH8):c.2060A>G (p.His687Arg)	GPATCH8 (H609R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2412513	NM_001002909.4(GPATCH8):c.2021G>A (p.Arg674Gln)	GPATCH8 (R596Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321491	NM_001002909.4(GPATCH8):c.1955G>T (p.Gly652Val)	GPATCH8 (G574V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370296	NM_001002909.4(GPATCH8):c.1946G>A (p.Gly649Asp)	GPATCH8 (G571D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101178	NM_001002909.4(GPATCH8):c.1921G>A (p.Gly641Ser)	GPATCH8 (G563S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396492	NM_001002909.4(GPATCH8):c.1879G>A (p.Gly627Arg)	GPATCH8 (G549R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255891	NM_001002909.4(GPATCH8):c.1865T>C (p.Ile622Thr)	GPATCH8 (I544T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588051	NM_001002909.4(GPATCH8):c.1775C>G (p.Pro592Arg)	GPATCH8 (P514R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379154	NM_001002909.4(GPATCH8):c.1421C>T (p.Ser474Leu)	GPATCH8 (S449L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325794	NM_001002909.4(GPATCH8):c.1343C>T (p.Ala448Val)	GPATCH8 (A370V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213682	NM_001002909.4(GPATCH8):c.1324C>T (p.Pro442Ser)	GPATCH8 (P364S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101177	NM_001002909.4(GPATCH8):c.1305A>T (p.Lys435Asn)	GPATCH8 (K435N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534120	NM_001002909.4(GPATCH8):c.1221T>A (p.Asn407Lys)	GPATCH8 (N329K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734203	NM_001002909.4(GPATCH8):c.1194C>G (p.Pro398=)	GPATCH8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615766	NM_001002909.4(GPATCH8):c.1165A>G (p.Thr389Ala)	GPATCH8 (T364A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236724	NM_001002909.4(GPATCH8):c.1156G>T (p.Ala386Ser)	GPATCH8 (A386S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204248	NM_001002909.4(GPATCH8):c.1043A>G (p.Asp348Gly)	GPATCH8 (D270G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282092	NM_001002909.4(GPATCH8):c.1025G>A (p.Gly342Glu)	GPATCH8 (G342E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282096	NM_001002909.4(GPATCH8):c.1004A>G (p.Asp335Gly)	GPATCH8 (D310G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286584	NM_001002909.4(GPATCH8):c.815T>G (p.Leu272Arg)	GPATCH8 (L247R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282095	NM_001002909.4(GPATCH8):c.683G>T (p.Gly228Val)	GPATCH8 (G228V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402146	NM_001002909.4(GPATCH8):c.214A>G (p.Ile72Val)	GPATCH8 (I47V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282094	NM_001002909.4(GPATCH8):c.170A>G (p.Gln57Arg)	GPATCH8 (Q32R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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