ClinVar for Gene (Select 10606) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250784	NM_001079524.2(PAICS):c.11C>T (p.Ala4Val)	PAICS (A213V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2654769	NM_001079524.2(PAICS):c.648C>G (p.Leu216=)	PAICS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614731	NM_001079524.2(PAICS):c.788A>G (p.Glu263Gly)	PAICS (E270G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604974	NM_001079524.2(PAICS):c.119C>T (p.Thr40Ile)	PAICS (T249I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593211	NM_001079524.2(PAICS):c.1096C>T (p.Leu366Phe)	PAICS (L755F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2537642	NM_001079524.2(PAICS):c.1055C>T (p.Pro352Leu)	PAICS (P713L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512870	NM_001079524.2(PAICS):c.1208G>A (p.Arg403Gln)	LOC126807060, PAICS (R410Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 2317212	NM_001079524.2(PAICS):c.1120T>A (p.Cys374Ser)	LOC126807060, PAICS (C735S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281461	NM_001079524.2(PAICS):c.965C>T (p.Pro322Leu)	PAICS (P711L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1686821	NM_001079524.2(PAICS):c.158A>G (p.Lys53Arg)	PAICS (K53R +3 more)	Single nucleotide variant (missense variant)	Phosphoribosylaminoimidazole carboxylase deficiency	GPathogenic
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	SPINK2, SRP72 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	CDKL2, LOC110120745 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814558	GRCh37/hg19 4q12(chr4:57067953-57957651)x3	SRP72, SPINK2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 726437	NM_002703.5(PPAT):c.128+10A>T	LOC129992622, PAICS +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	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
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33