25397[HGNC] - ClinVar

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Search results

Items: 63

	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 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
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 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
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 59457	GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59458	GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 3118931	NM_194282.4(LIN54):c.2183G>A (p.Arg728Gln)	LIN54 (R507Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311190	NM_194282.4(LIN54):c.2152G>T (p.Ala718Ser)	LIN54 (A718S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333338	NM_194282.4(LIN54):c.2119C>A (p.Gln707Lys)	LIN54 (Q707K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118930	NM_194282.4(LIN54):c.2065G>T (p.Val689Leu)	LIN54 (V600L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622296	NM_194282.4(LIN54):c.1908G>A (p.Pro636=)	LIN54	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2366923	NM_194282.4(LIN54):c.1857G>A (p.Met619Ile)	LIN54 (M398I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293346	NM_194282.4(LIN54):c.1558C>T (p.Arg520Trp)	LIN54 (R520W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325910	NM_194282.4(LIN54):c.1459G>A (p.Val487Ile)	LIN54 (V266I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539265	NM_194282.4(LIN54):c.1457A>T (p.Tyr486Phe)	LIN54 (Y397F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262068	NM_194282.4(LIN54):c.1396G>C (p.Gly466Arg)	LIN54 (G377R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481434	NM_194282.4(LIN54):c.1346A>G (p.Asn449Ser)	LIN54 (N228S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314150	NM_194282.4(LIN54):c.1172A>G (p.Lys391Arg)	LIN54 (K170R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314672	NM_194282.4(LIN54):c.908C>G (p.Thr303Arg)	LIN54 (T303R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118935	NM_194282.4(LIN54):c.886A>G (p.Thr296Ala)	LIN54 (T296A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290169	NM_194282.4(LIN54):c.647C>T (p.Pro216Leu)	LIN54 (P216L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359697	NM_194282.4(LIN54):c.586C>A (p.Pro196Thr)	LIN54 (P196T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283039	NM_194282.4(LIN54):c.286C>T (p.Pro96Ser)	LIN54 (P96S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118932	NM_194282.4(LIN54):c.277C>A (p.Pro93Thr)	LIN54 (P93T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273656	NM_194282.4(LIN54):c.112A>G (p.Ile38Val)	LIN54 (I38V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290768	NM_194282.4(LIN54):c.95T>C (p.Val32Ala)	LIN54 (V32A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546795	NM_194282.4(LIN54):c.82A>C (p.Ser28Arg)	LIN54 (S28R)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 2268170	NM_194282.4(LIN54):c.43G>A (p.Glu15Lys)	LIN54 (E15K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118933	NM_194282.4(LIN54):c.40G>C (p.Glu14Gln)	LIN54 (E14Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385952	NM_194282.4(LIN54):c.29G>A (p.Ser10Asn)	LIN54 (S10N)	Single nucleotide variant (missense variant +2 more)	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 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 1340143	GRCh37/hg19 4q21.22(chr4:83402855-83847970)x3	LIN54, SCD5 +3 more	Copy number gain	not provided	GUncertain significance
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 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 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 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 442797	GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1	COPS4, ENOPH1 +9 more	Copy number loss	See cases	GLikely pathogenic
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
Select item 524181	t(4;14)(q11;p11)dn	LIN54	Translocation	not specified	GUncertain significance

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Items: 63