GPATCH2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 60080	GRCh38/hg38 1q41(chr1:216396695-217549806)x1	ESRRG, GPATCH2 +13 more	Copy number loss	See cases	GPathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 148989	GRCh38/hg38 1q41(chr1:216598114-218007334)x3	ESRRG, GPATCH2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 207845	NM_018040.5(GPATCH2):c.1526del (p.Gly509fs)	GPATCH2 (G509fs)	Deletion (frameshift variant)	Long QT syndrome	GLikely benign
Select item 2545562	NM_018040.5(GPATCH2):c.1430A>G (p.Asn477Ser)	GPATCH2 (N477S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2265419	NM_018040.5(GPATCH2):c.1409T>C (p.Ile470Thr)	GPATCH2 (I470T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 60082	GRCh38/hg38 1q41(chr1:217452423-218818361)x1	GPATCH2, LINC00210 +22 more	Copy number loss	See cases	GPathogenic
Select item 2397624	NM_018040.5(GPATCH2):c.1240G>A (p.Gly414Arg)	GPATCH2 (G414R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154219	GRCh38/hg38 1q41(chr1:217558925-218732002)x3	GPATCH2, LINC00210 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2264608	NM_018040.5(GPATCH2):c.1087C>A (p.Pro363Thr)	GPATCH2 (P363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310486	NM_018040.5(GPATCH2):c.1081G>A (p.Gly361Arg)	GPATCH2 (G361R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462459	NM_018040.5(GPATCH2):c.1066A>G (p.Ile356Val)	GPATCH2 (I356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245799	NM_018040.5(GPATCH2):c.958C>T (p.Pro320Ser)	GPATCH2 (P320S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588492	NM_018040.5(GPATCH2):c.931A>G (p.Thr311Ala)	GPATCH2 (T311A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531531	NM_018040.5(GPATCH2):c.913T>A (p.Trp305Arg)	GPATCH2 (W305R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270804	NM_018040.5(GPATCH2):c.758A>G (p.Glu253Gly)	GPATCH2 (E253G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285504	NM_018040.5(GPATCH2):c.728T>C (p.Met243Thr)	GPATCH2 (M243T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326076	NM_018040.5(GPATCH2):c.719A>C (p.Lys240Thr)	GPATCH2 (K240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296300	NM_018040.5(GPATCH2):c.607G>A (p.Glu203Lys)	GPATCH2 (E203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209484	NM_018040.5(GPATCH2):c.599A>G (p.Gln200Arg)	GPATCH2 (Q200R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533285	NM_018040.5(GPATCH2):c.588T>G (p.Asp196Glu)	GPATCH2 (D196E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455227	NM_018040.5(GPATCH2):c.523A>T (p.Ile175Phe)	GPATCH2 (I175F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639900	NM_018040.5(GPATCH2):c.414G>A (p.Gly138=)	GPATCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343450	NM_018040.5(GPATCH2):c.404A>G (p.Asn135Ser)	GPATCH2 (N135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461176	NM_018040.5(GPATCH2):c.393C>G (p.Asn131Lys)	GPATCH2 (N131K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389234	NM_018040.5(GPATCH2):c.383C>T (p.Pro128Leu)	GPATCH2 (P128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367289	NM_018040.5(GPATCH2):c.247G>C (p.Glu83Gln)	GPATCH2 (E83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527548	GRCh37/hg19 1q41(chr1:216767549-218152575)	ESRRG, GPATCH2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199384	Single allele	TGFB2, ESRRG +4 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199383	Single allele	RRP15, TGFB2 +8 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199382	Single allele	RRP15, SPATA17 +2 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 624510	GRCh37/hg19 1q41(chr1:217748650-217893701)x1	GPATCH2, SPATA17	Copy number loss	not provided	GLikely benign
Select item 565223	GRCh37/hg19 1q41(chr1:216761324-218152278)x3	GPATCH2, ESRRG +1 more	Copy number gain	not provided	GUncertain significance
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, GPATCH2 +4 more	Copy number loss	Scoliosis +4 more	GPathogenic
Select item 443565	GRCh37/hg19 1q41(chr1:217699328-218689648)x1	GPATCH2, RRP15 +2 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224871	Single allele	EPRS1, SLC30A10 +6 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic

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Items: 59