GPATCH1[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2365569	NM_018025.3(GPATCH1):c.52G>C (p.Gly18Arg)	GPATCH1, LOC130064170 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282059	NM_018025.3(GPATCH1):c.89A>T (p.Lys30Ile)	GPATCH1 (K30I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554948	NM_018025.3(GPATCH1):c.143G>T (p.Arg48Leu)	GPATCH1 (R48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101142	NM_018025.3(GPATCH1):c.151G>A (p.Gly51Arg)	GPATCH1 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222669	NM_018025.3(GPATCH1):c.163G>A (p.Gly55Arg)	GPATCH1 (G55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244575	NM_018025.3(GPATCH1):c.191C>G (p.Thr64Ser)	GPATCH1 (T64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530057	NM_018025.3(GPATCH1):c.230T>C (p.Val77Ala)	GPATCH1 (V77A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374699	NM_018025.3(GPATCH1):c.250G>A (p.Ala84Thr)	GPATCH1 (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258137	NM_018025.3(GPATCH1):c.260C>A (p.Ser87Tyr)	GPATCH1 (S87Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282064	NM_018025.3(GPATCH1):c.371T>C (p.Ile124Thr)	GPATCH1 (I124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310485	NM_018025.3(GPATCH1):c.374G>A (p.Arg125Gln)	GPATCH1 (R125Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491448	NM_018025.3(GPATCH1):c.397G>A (p.Ala133Thr)	GPATCH1 (A133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484821	NM_018025.3(GPATCH1):c.401C>A (p.Ala134Asp)	GPATCH1 (A134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101152	NM_018025.3(GPATCH1):c.409C>T (p.Pro137Ser)	GPATCH1 (P137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459736	NM_018025.3(GPATCH1):c.415C>T (p.Pro139Ser)	GPATCH1 (P139S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526164	NM_018025.3(GPATCH1):c.472G>A (p.Glu158Lys)	GPATCH1 (E158K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290503	NM_018025.3(GPATCH1):c.503G>T (p.Gly168Val)	GPATCH1 (G168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282055	NM_018025.3(GPATCH1):c.508G>A (p.Gly170Arg)	GPATCH1 (G170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282058	NM_018025.3(GPATCH1):c.511G>A (p.Val171Ile)	GPATCH1 (V171I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3282056	NM_018025.3(GPATCH1):c.532C>T (p.Arg178Trp)	GPATCH1 (R178W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217050	NM_018025.3(GPATCH1):c.538C>T (p.Arg180Cys)	GPATCH1 (R180C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282061	NM_018025.3(GPATCH1):c.668C>T (p.Thr223Ile)	GPATCH1 (T223I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282057	NM_018025.3(GPATCH1):c.744T>G (p.Phe248Leu)	GPATCH1 (F248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299373	NM_018025.3(GPATCH1):c.775A>G (p.Ser259Gly)	GPATCH1 (S259G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2487216	NM_018025.3(GPATCH1):c.782G>A (p.Gly261Asp)	GPATCH1 (G261D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477451	NM_018025.3(GPATCH1):c.896A>G (p.Tyr299Cys)	GPATCH1 (Y299C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479159	NM_018025.3(GPATCH1):c.983A>T (p.Gln328Leu)	GPATCH1 (Q328L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212741	NM_018025.3(GPATCH1):c.1018C>T (p.Arg340Trp)	GPATCH1 (R340W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403329	NM_018025.3(GPATCH1):c.1019G>A (p.Arg340Gln)	GPATCH1 (R340Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219180	NM_018025.3(GPATCH1):c.1094C>T (p.Pro365Leu)	GPATCH1 (P365L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101139	NM_018025.3(GPATCH1):c.1166A>G (p.His389Arg)	GPATCH1 (H389R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516313	NM_018025.3(GPATCH1):c.1183T>C (p.Ser395Pro)	GPATCH1 (S395P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101140	NM_018025.3(GPATCH1):c.1253G>T (p.Arg418Leu)	GPATCH1 (R418L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624409	NM_018025.3(GPATCH1):c.1461G>C (p.Trp487Cys)	GPATCH1 (W487C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101141	NM_018025.3(GPATCH1):c.1467G>A (p.Met489Ile)	GPATCH1 (M489I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544546	NM_018025.3(GPATCH1):c.1484C>T (p.Thr495Met)	GPATCH1 (T495M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101143	NM_018025.3(GPATCH1):c.1529C>T (p.Pro510Leu)	GPATCH1 (P510L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390603	NM_018025.3(GPATCH1):c.1561G>A (p.Val521Ile)	GPATCH1 (V521I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320208	NM_018025.3(GPATCH1):c.1629G>C (p.Glu543Asp)	GPATCH1 (E543D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224688	NM_018025.3(GPATCH1):c.1657C>T (p.Arg553Trp)	GPATCH1 (R553W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589997	NM_018025.3(GPATCH1):c.1658G>A (p.Arg553Gln)	GPATCH1 (R553Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554950	NM_018025.3(GPATCH1):c.1714G>A (p.Ala572Thr)	GPATCH1 (A572T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286583	NM_018025.3(GPATCH1):c.1754G>A (p.Arg585Gln)	GPATCH1 (R585Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344262	NM_018025.3(GPATCH1):c.1765A>G (p.Asn589Asp)	GPATCH1 (N589D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555396	NM_018025.3(GPATCH1):c.1799T>C (p.Met600Thr)	GPATCH1 (M600T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101145	NM_018025.3(GPATCH1):c.1805T>C (p.Met602Thr)	GPATCH1 (M602T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320627	NM_018025.3(GPATCH1):c.1883C>G (p.Pro628Arg)	GPATCH1 (P628R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521003	NM_018025.3(GPATCH1):c.1913C>T (p.Pro638Leu)	GPATCH1 (P638L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101146	NM_018025.3(GPATCH1):c.1934A>T (p.Tyr645Phe)	GPATCH1 (Y645F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464542	NM_018025.3(GPATCH1):c.1981A>G (p.Thr661Ala)	GPATCH1 (T661A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101147	NM_018025.3(GPATCH1):c.1993T>C (p.Ser665Pro)	GPATCH1 (S665P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3282060	NM_018025.3(GPATCH1):c.2015A>C (p.His672Pro)	GPATCH1 (H672P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560163	NM_018025.3(GPATCH1):c.2062A>C (p.Lys688Gln)	GPATCH1 (K688Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282063	NM_018025.3(GPATCH1):c.2068G>A (p.Glu690Lys)	GPATCH1 (E690K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261118	NM_018025.3(GPATCH1):c.2166A>T (p.Glu722Asp)	GPATCH1 (E722D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351647	NM_018025.3(GPATCH1):c.2251A>T (p.Met751Leu)	GPATCH1 (M751L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468796	NM_018025.3(GPATCH1):c.2284T>C (p.Ser762Pro)	GPATCH1 (S762P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101148	NM_018025.3(GPATCH1):c.2309A>C (p.Glu770Ala)	GPATCH1 (E770A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469063	NM_018025.3(GPATCH1):c.2392G>A (p.Glu798Lys)	GPATCH1 (E798K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485530	NM_018025.3(GPATCH1):c.2395A>T (p.Thr799Ser)	GPATCH1 (T799S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408489	NM_018025.3(GPATCH1):c.2501T>A (p.Leu834Gln)	GPATCH1 (L834Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101149	NM_018025.3(GPATCH1):c.2507C>T (p.Pro836Leu)	GPATCH1 (P836L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774956	NM_018025.3(GPATCH1):c.2588C>T (p.Ala863Val)	GPATCH1 (A863V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3282062	NM_018025.3(GPATCH1):c.2605C>T (p.Arg869Trp)	GPATCH1 (R869W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397810	NM_018025.3(GPATCH1):c.2701G>A (p.Asp901Asn)	GPATCH1 (D901N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282054	NM_018025.3(GPATCH1):c.2710G>A (p.Asp904Asn)	GPATCH1 (D904N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341886	NM_018025.3(GPATCH1):c.2716C>G (p.Gln906Glu)	GPATCH1 (Q906E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779186	NM_018025.3(GPATCH1):c.2725G>A (p.Glu909Lys)	GPATCH1 (E909K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3101150	NM_018025.3(GPATCH1):c.2740G>A (p.Val914Met)	GPATCH1 (V914M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685634	GRCh37/hg19 19q13.11(chr19:33570250-33641799)x1	GPATCH1, WDR88	Copy number loss	not provided	GUncertain significance
Select item 2684890	GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	CEBPA, CEBPG +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1020169	NC_000019.9:g.(?_33532300)_(33793320_?)dup	CEBPA, GPATCH1 +4 more	Duplication	Acute myeloid leukemia	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 87