ClinVar for Gene (Select 54865) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282084	NM_015590.4(GPATCH4):c.638A>C (p.Lys213Thr)	GPATCH4 (K213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282083	NM_015590.4(GPATCH4):c.163C>A (p.His55Asn)	GPATCH4 (H50N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282082	NM_015590.4(GPATCH4):c.680G>A (p.Arg227Lys)	GPATCH4 (R222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282081	NM_015590.4(GPATCH4):c.296C>A (p.Thr99Asn)	GPATCH4 (T99N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282080	NM_015590.4(GPATCH4):c.161C>T (p.Thr54Ile)	GPATCH4 (T54I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3101176	NM_001396855.1(GPATCH4):c.594G>C (p.Glu198Asp)	GPATCH4 (E198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101174	NM_001396855.1(GPATCH4):c.161A>G (p.His54Arg)	GPATCH4 (H54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685699	GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1	GPATCH4, HAPLN2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2672363	NM_001396855.1(GPATCH4):c.732A>G (p.Lys244=)	GPATCH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639458	NM_001396855.1(GPATCH4):c.219G>A (p.Ala73=)	GPATCH4, NAXE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2639457	NM_001396855.1(GPATCH4):c.297T>C (p.His99=)	GPATCH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639456	NM_015590.4(GPATCH4):c.348+115G>A	GPATCH4, NAXE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2615092	NM_001396855.1(GPATCH4):c.656C>T (p.Ala219Val)	GPATCH4 (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2558602	NM_001396855.1(GPATCH4):c.733A>T (p.Arg245Trp)	GPATCH4 (R245W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554066	NM_001396855.1(GPATCH4):c.266G>A (p.Ser89Asn)	GPATCH4 (S89N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511883	NM_001396855.1(GPATCH4):c.63G>T (p.Lys21Asn)	GPATCH4 (K21N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509870	NM_001396855.1(GPATCH4):c.550C>T (p.Arg184Cys)	GPATCH4 (R189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485176	NM_001396855.1(GPATCH4):c.947C>T (p.Ala316Val)	GPATCH4 (A316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427315	NC_000001.10:g.(?_156554669)_(156568838_?)del	GPATCH4, NAXE +1 more	Deletion	not provided	GPathogenic
Select item 2391653	NM_001396855.1(GPATCH4):c.1007G>T (p.Arg336Ile)	GPATCH4 (R341I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350987	NM_001396855.1(GPATCH4):c.-79G>C	GPATCH4 (R4P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321217	NM_001396855.1(GPATCH4):c.572G>A (p.Gly191Glu)	GPATCH4 (G196E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316524	NM_001396855.1(GPATCH4):c.596G>T (p.Ser199Ile)	GPATCH4 (S204I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306580	NM_001396855.1(GPATCH4):c.597C>A (p.Ser199Arg)	GPATCH4 (S199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299687	NM_001396855.1(GPATCH4):c.1034A>G (p.Glu345Gly)	GPATCH4 (E350G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296472	NM_001396855.1(GPATCH4):c.238A>G (p.Thr80Ala)	GPATCH4 (T80A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289262	NM_001396855.1(GPATCH4):c.-65A>C	GPATCH4 (N9H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270454	NM_001396855.1(GPATCH4):c.500T>A (p.Met167Lys)	GPATCH4 (M167K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264445	NM_001396855.1(GPATCH4):c.356G>C (p.Gly119Ala)	GPATCH4 (G124A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232333	NM_001396855.1(GPATCH4):c.64C>T (p.His22Tyr)	GPATCH4 (H27Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215842	NM_001396855.1(GPATCH4):c.994C>G (p.Pro332Ala)	GPATCH4 (P332A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215556	NM_001396855.1(GPATCH4):c.862A>G (p.Arg288Gly)	GPATCH4 (R293G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207496	NM_001396855.1(GPATCH4):c.-74G>C	GPATCH4 (G6R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	LCE2C, S100A2 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 57814	GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3	BCAN, BCAN-AS1 +6 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 54