8056[HGNC] - ClinVar

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Items: 48

	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 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 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 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 3202837	NM_024047.5(NUDT9):c.41C>G (p.Ser14Cys)	NUDT9 (S14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371238	NM_024047.5(NUDT9):c.121T>A (p.Ser41Thr)	NUDT9 (S41T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202833	NM_024047.5(NUDT9):c.136C>T (p.Leu46Phe)	NUDT9 (L46F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202834	NM_024047.5(NUDT9):c.146A>G (p.Asn49Ser)	NUDT9 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319871	NM_024047.5(NUDT9):c.170C>A (p.Ser57Tyr)	NUDT9 (S57Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202835	NM_024047.5(NUDT9):c.196C>T (p.Arg66Trp)	NUDT9 (R66W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280382	NM_024047.5(NUDT9):c.205C>A (p.Pro69Thr)	NUDT9 (P19T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202836	NM_024047.5(NUDT9):c.251A>G (p.Lys84Arg)	NUDT9 (K34R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602535	NM_024047.5(NUDT9):c.348T>C (p.Ser116=)	NUDT9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3301417	NM_024047.5(NUDT9):c.523A>G (p.Ile175Val)	NUDT9 (I143V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319004	NM_024047.5(NUDT9):c.581A>G (p.Lys194Arg)	NUDT9 (K162R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202839	NM_024047.5(NUDT9):c.601G>T (p.Ala201Ser)	NUDT9 (A151S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301416	NM_024047.5(NUDT9):c.649G>A (p.Val217Met)	NUDT9 (V167M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618109	NM_024047.5(NUDT9):c.752A>G (p.Glu251Gly)	NUDT9 (E219G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202840	NM_024047.5(NUDT9):c.824C>A (p.Thr275Asn)	NUDT9 (T243N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543110	NM_024047.5(NUDT9):c.910G>C (p.Asp304His)	NUDT9 (D304H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269036	NM_024047.5(NUDT9):c.934G>A (p.Val312Met)	NUDT9 (V262M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202841	NM_024047.5(NUDT9):c.958C>T (p.Leu320Phe)	NUDT9 (L288F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214006	NM_024047.5(NUDT9):c.974C>G (p.Ser325Cys)	NUDT9 (S293C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459417	NM_024047.5(NUDT9):c.1004G>A (p.Arg335Gln)	NUDT9 (R285Q +2 more)	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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2498966	GRCh37/hg19 4q22.1(chr4:88344058-89061168)x1	ABCG2, DMP1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	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 1340508	GRCh37/hg19 4q22.1(chr4:88063686-88517522)x3	HSD17B11, HSD17B13 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	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 562942	GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3	AFF1, PPM1K +12 more	Copy number gain	not provided	GUncertain significance
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 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

ClinVar

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Items: 48