ClinVar for Gene (Select 7368) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330895	NM_001128174.3(UGT8):c.190C>T (p.Pro64Ser)	UGT8 (P64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330894	NM_001128174.3(UGT8):c.1272G>C (p.Gln424His)	UGT8 (Q424H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186257	NM_001128174.3(UGT8):c.601C>T (p.Leu201Phe)	UGT8 (L201F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186256	NM_001128174.3(UGT8):c.319C>G (p.Leu107Val)	UGT8 (L107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186255	NM_001128174.3(UGT8):c.128C>T (p.Ser43Leu)	UGT8 (S43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186254	NM_001128174.3(UGT8):c.1261A>T (p.Ser421Cys)	UGT8 (S421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186253	NM_001128174.3(UGT8):c.1225C>T (p.Leu409Phe)	UGT8 (L409F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186252	NM_001128174.3(UGT8):c.1102A>G (p.Ile368Val)	UGT8 (I368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	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 2655047	NM_001128174.3(UGT8):c.1260C>T (p.Pro420=)	UGT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655046	NM_001128174.3(UGT8):c.18A>G (p.Pro6=)	UGT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613968	NM_001128174.3(UGT8):c.139G>C (p.Glu47Gln)	UGT8 (E47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606766	NM_001128174.3(UGT8):c.704A>T (p.His235Leu)	UGT8 (H235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588434	NM_001128174.3(UGT8):c.53C>T (p.Ala18Val)	UGT8 (A18V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555124	NM_001128174.3(UGT8):c.76G>T (p.Val26Leu)	UGT8 (V26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546292	NM_001128174.3(UGT8):c.178A>G (p.Arg60Gly)	UGT8 (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532714	NM_001128174.3(UGT8):c.365C>A (p.Ala122Asp)	UGT8 (A122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524632	NM_001128174.3(UGT8):c.1335C>G (p.Ile445Met)	UGT8 (I445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466914	NM_001128174.3(UGT8):c.1543G>A (p.Val515Ile)	UGT8 (V515I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372229	NM_001128174.3(UGT8):c.1381C>T (p.Arg461Cys)	UGT8 (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327604	NM_001128174.3(UGT8):c.583A>G (p.Lys195Glu)	UGT8 (K195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308815	NM_001128174.3(UGT8):c.913G>T (p.Ala305Ser)	UGT8 (A305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297577	NM_001128174.3(UGT8):c.145G>T (p.Gly49Cys)	UGT8 (G49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264024	NM_001128174.3(UGT8):c.1480T>G (p.Trp494Gly)	UGT8 (W494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252057	NM_001128174.3(UGT8):c.1601T>G (p.Ile534Ser)	UGT8 (I534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252056	NM_001128174.3(UGT8):c.1087A>G (p.Ser363Gly)	UGT8 (S363G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226610	NM_001128174.3(UGT8):c.76G>A (p.Val26Met)	UGT8 (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221550	NM_001128174.3(UGT8):c.396T>G (p.Phe132Leu)	UGT8 (F132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	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 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 783140	NM_001128174.3(UGT8):c.1104= (p.Ile368=)	UGT8	Variation (no sequence alteration)	not provided	GBenign
Select item 776011	NM_001128174.3(UGT8):c.454G>A (p.Gly152Arg)	UGT8 (G152R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774616	NM_001128174.3(UGT8):c.678= (p.Pro226=)	UGT8	Variation (no sequence alteration)	not provided	GBenign
Select item 769293	NM_001128174.3(UGT8):c.618G>T (p.Gly206=)	UGT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752044	NM_001128174.3(UGT8):c.1005T>C (p.Thr335=)	UGT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738464	NM_001128174.3(UGT8):c.1242G>A (p.Val414=)	UGT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733343	NM_001128174.3(UGT8):c.1337A>G (p.Tyr446Cys)	UGT8 (Y446C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731077	NM_001128174.3(UGT8):c.615A>G (p.Leu205=)	UGT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730117	NM_001128174.3(UGT8):c.1364A>G (p.Asn455Ser)	UGT8 (N455S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685838	GRCh37/hg19 4q26(chr4:114579245-115640604)x3	ARSJ, CAMK2D +1 more	Copy number gain	not provided	GUncertain significance
Select item 562958	GRCh37/hg19 4q26(chr4:115565977-115890735)x3	NDST4, UGT8	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	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 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 392480	NM_001128174.3(UGT8):c.811C>T (p.Pro271Ser)	UGT8 (P271S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51