ClinVar for Gene (Select 1040) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141733	NM_001263.4(CDS1):c.53C>G (p.Ser18Trp)	CDS1 (S18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141732	NM_001263.4(CDS1):c.370C>A (p.His124Asn)	CDS1 (H124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141731	NM_001263.4(CDS1):c.352A>G (p.Ile118Val)	CDS1 (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141730	NM_001263.4(CDS1):c.20G>A (p.Arg7Gln)	CDS1 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141729	NM_001263.4(CDS1):c.1284G>T (p.Gln428His)	CDS1 (Q428H)	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 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057394	NM_001263.4(CDS1):c.1303C>G (p.Pro435Ala)	CDS1 (P435A)	Single nucleotide variant (missense variant)	CDS1-related condition	GLikely benign
Select item 3051171	NM_001263.4(CDS1):c.811-5_811-3dup	CDS1	Duplication (intron variant)	CDS1-related condition	GLikely benign
Select item 3050570	NM_001263.4(CDS1):c.1257-8A>G	CDS1	Single nucleotide variant (intron variant)	CDS1-related condition	GLikely benign
Select item 3049585	NM_001263.4(CDS1):c.723-9T>A	CDS1	Single nucleotide variant (intron variant)	CDS1-related condition	GBenign
Select item 3045809	NM_001263.4(CDS1):c.1271G>A (p.Ser424Asn)	CDS1 (S424N)	Single nucleotide variant (missense variant)	CDS1-related condition	GBenign
Select item 3043841	NM_001263.4(CDS1):c.723-4dup	CDS1	Duplication (intron variant)	CDS1-related condition	GLikely benign
Select item 3043745	NM_001263.4(CDS1):c.951C>T (p.Phe317=)	CDS1	Single nucleotide variant (synonymous variant)	CDS1-related condition	GBenign
Select item 3041961	NM_001263.4(CDS1):c.143G>C (p.Gly48Ala)	CDS1 (G48A)	Single nucleotide variant (missense variant)	CDS1-related condition	GLikely benign
Select item 3039410	NM_001263.4(CDS1):c.-8A>G	CDS1	Single nucleotide variant (5 prime UTR variant)	CDS1-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685975	GRCh37/hg19 4q21.23(chr4:85213849-85679628)x3	CDS1, NKX6-1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2631602	NM_001263.4(CDS1):c.1219G>T (p.Ala407Ser)	CDS1 (A407S)	Single nucleotide variant (missense variant)	CDS1-related condition	GUncertain significance
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 2548403	NM_001263.4(CDS1):c.56C>T (p.Pro19Leu)	CDS1 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533610	NM_001263.4(CDS1):c.164A>G (p.Asp55Gly)	CDS1 (D55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530840	NM_001263.4(CDS1):c.1190T>C (p.Met397Thr)	CDS1 (M397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457198	NM_001263.4(CDS1):c.419C>T (p.Pro140Leu)	CDS1 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397363	NM_001263.4(CDS1):c.704T>C (p.Leu235Pro)	CDS1 (L235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351910	NM_001263.4(CDS1):c.188C>T (p.Pro63Leu)	CDS1 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347977	NM_001263.4(CDS1):c.1006C>G (p.Pro336Ala)	CDS1 (P336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218424	NM_001263.4(CDS1):c.310A>G (p.Ile104Val)	CDS1 (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211296	NM_001263.4(CDS1):c.1066A>G (p.Ser356Gly)	CDS1 (S356G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 830313	Single allele	ABRAXAS1, CDS1 +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 775994	NM_001263.4(CDS1):c.723-8A>T	CDS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 442256	GRCh37/hg19 4q21.23(chr4:84780467-85971501)x1	CDS1, NKX6-1 +1 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	SCRG1, SDAD1 +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	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	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 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	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 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	ABRAXAS1, ANTXR2 +137 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 146118	GRCh38/hg38 4q21.23-21.3(chr4:84577519-86077547)x3	ARHGAP24, CDS1 +17 more	Copy number gain	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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 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: 58