GPAT3[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 2302877	NM_032717.5(GPAT3):c.28A>T (p.Ile10Phe)	GPAT3 (I10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101131	NM_032717.5(GPAT3):c.98G>A (p.Gly33Asp)	GPAT3 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282053	NM_032717.5(GPAT3):c.113A>G (p.Tyr38Cys)	GPAT3 (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262101	NM_032717.5(GPAT3):c.170C>A (p.Thr57Asn)	GPAT3 (T57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784488	NM_032717.5(GPAT3):c.184A>G (p.Ile62Val)	GPAT3 (I62V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2312425	NM_032717.5(GPAT3):c.185T>G (p.Ile62Ser)	GPAT3 (I62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282051	NM_032717.5(GPAT3):c.224A>G (p.Asp75Gly)	GPAT3 (D75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101126	NM_032717.5(GPAT3):c.227A>G (p.Glu76Gly)	GPAT3 (E76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363159	NM_032717.5(GPAT3):c.230C>T (p.Ser77Leu)	GPAT3 (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363385	NM_032717.5(GPAT3):c.407A>T (p.Tyr136Phe)	GPAT3 (Y136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588785	NM_032717.5(GPAT3):c.433T>G (p.Trp145Gly)	GPAT3 (W145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282050	NM_032717.5(GPAT3):c.437T>C (p.Val146Ala)	GPAT3 (V146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515287	NM_032717.5(GPAT3):c.443G>A (p.Gly148Asp)	GPAT3 (G148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101127	NM_032717.5(GPAT3):c.454C>T (p.Arg152Cys)	GPAT3 (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282052	NM_032717.5(GPAT3):c.497T>C (p.Ile166Thr)	GPAT3 (I166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101128	NM_032717.5(GPAT3):c.598C>T (p.Arg200Trp)	GPAT3 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345242	NM_032717.5(GPAT3):c.668G>A (p.Gly223Asp)	GPAT3 (G223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251877	NM_032717.5(GPAT3):c.769A>T (p.Ile257Phe)	GPAT3 (I257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282048	NM_032717.5(GPAT3):c.804T>A (p.His268Gln)	GPAT3 (H268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517508	NM_032717.5(GPAT3):c.880A>C (p.Lys294Gln)	GPAT3 (K294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298557	NM_032717.5(GPAT3):c.884A>G (p.Lys295Arg)	GPAT3 (K295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101129	NM_032717.5(GPAT3):c.904C>T (p.Pro302Ser)	GPAT3 (P302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282049	NM_032717.5(GPAT3):c.985G>A (p.Val329Ile)	GPAT3 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101130	NM_032717.5(GPAT3):c.989C>T (p.Ala330Val)	GPAT3 (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475354	NM_032717.5(GPAT3):c.1153A>G (p.Asn385Asp)	GPAT3 (N385D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490467	NM_032717.5(GPAT3):c.1159G>T (p.Val387Phe)	GPAT3 (V387F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219623	NM_032717.5(GPAT3):c.1174G>C (p.Ala392Pro)	GPAT3 (A392P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366159	NM_032717.5(GPAT3):c.1214G>A (p.Gly405Glu)	GPAT3 (G405E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299862	NM_032717.5(GPAT3):c.1217T>C (p.Leu406Pro)	GPAT3 (L406P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685974	GRCh37/hg19 4q21.22-21.23(chr4:84048378-84973081)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808342	GRCh37/hg19 4q21.23(chr4:84142481-84840424)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708193	GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)x1	HPSE, MRPS18C +4 more	Copy number loss	See cases	GPathogenic
Select item 1527107	GRCh37/hg19 4q21.23(chr4:84317758-85090749)	ABRAXAS1, GPAT3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527106	GRCh37/hg19 4q21.23(chr4:84134525-84984297)	ABRAXAS1, COQ2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929364	GRCh37/hg19 4q21.22-21.23(chr4:84053945-85081980)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 830313	Single allele	CDS1, COPS4 +16 more	Deletion	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 814576	GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	ENOPH1, MRPS18C +17 more	Copy number loss	not provided	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 442552	GRCh37/hg19 4q21.22-21.23(chr4:83954528-85807754)x1	ABRAXAS1, CDS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 67