28213[HGNC] - ClinVar

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Items: 43

	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 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 2654941	NM_001042616.3(PIGY):c.162T>C (p.Tyr54=)	PIGY, PYURF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1031009	NM_001042616.3(PIGY):c.151A>G (p.Ile51Val)	PIGY, PYURF (I51V)	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6 +1 more	GUncertain significance
Select item 791982	NM_001042616.3(PIGY):c.143C>T (p.Pro48Leu)	PIGY, PYURF (P48L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 222024	NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro)	PIGY, PYURF (L46P)	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6	GPathogenic
Select item 1478406	NM_001042616.3(PIGY):c.110C>G (p.Thr37Arg)	PIGY, PYURF (T37R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2974851	NM_001042616.3(PIGY):c.108C>G (p.Ser36Arg)	PIGY, PYURF (S36R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1033241	NM_001042616.3(PIGY):c.101G>A (p.Cys34Tyr)	PIGY, PYURF (C34Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6	GUncertain significance
Select item 2725042	NM_001042616.3(PIGY):c.46T>C (p.Ser16Pro)	PIGY, PYURF (S16P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2966209	NM_001042616.3(PIGY):c.21G>A (p.Thr7=)	PIGY, PYURF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 425334	NM_001042616.3(PIGY):c.17C>G (p.Pro6Arg)	PYURF, PIGY (P6R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2000496	NM_001042616.3(PIGY):c.16C>T (p.Pro6Ser)	PIGY, PYURF (P6S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1493887	NM_001042616.3(PIGY):c.1A>G (p.Met1Val)	PIGY, PYURF (M1V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 993284	NM_032906.5(PYURF):c.289_290dup (p.Gln97fs)	PIGY, PYURF (Q97fs)	Microsatellite (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 1283753	NM_032906.5(PYURF):c.222C>T (p.Asn74=)	PIGY, PYURF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2374521	NM_032906.5(PYURF):c.113A>C (p.Asp38Ala)	PIGY, PYURF (D38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1033242	NM_032906.5(PYURF):c.110C>T (p.Ala37Val)	PYURF, PIGY (A37V)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6	GUncertain significance
Select item 1321146	NC_000004.12:g.88523787C>T	PIGY	Single nucleotide variant	not provided	GBenign
Select item 222025	NM_001042616.2(PIGY):c.-540G>A	PIGY	Single nucleotide variant	Hyperphosphatasia with intellectual disability syndrome 6	GPathogenic
Select item 1290155	NM_001375482.1(HERC3):c.-135C>T	HERC3, PIGY +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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	CAMK2D, GIMD1 +537 more	Copy number gain	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 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 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

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Items: 43