ClinVar for Gene (Select 55094) - ClinVar

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 779186	NM_018025.3(GPATCH1):c.2725G>A (p.Glu909Lys)	GPATCH1 (E909K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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
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 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 87