"GeneDx"[submitter] AND "UGT1A7"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 440385	NM_019076.5(UGT1A8):c.855+63408C>A	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 440386	NM_019076.5(UGT1A8):c.855+63762T>G	UGT1A8, UGT1A9 +3 more (N129K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 440387	NM_019076.5(UGT1A8):c.855+63766C>A	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 440388	NM_019076.5(UGT1A8):c.855+63767G>A	UGT1A10, UGT1A7 +3 more (R131Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 440389	NM_019076.5(UGT1A8):c.855+63997T>C	UGT1A, UGT1A10 +3 more (W208R)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 440390	NM_019076.5(UGT1A8):c.855+64131G>A	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 440382	NM_019076.5(UGT1A8):c.856-73403G>T	UGT1A7, UGT1A8 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770346	NM_019076.5(UGT1A8):c.856-53268G>C	UGT1A, UGT1A10 +5 more (G259R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1265916	NM_019076.5(UGT1A8):c.856-6852T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A3, UGT1A4 +8 more	Microsatellite (intron variant)	Irinotecan response +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 549830	UGT1A1*36	UGT1A5, UGT1A6 +8 more	Microsatellite (intron variant)	not provided +1 more	GBenign; drug response
Select item 12280	UGT1A1*6	UGT1A6, UGT1A7 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Irinotecan response +5 more	GConflicting classifications of pathogenicity; drug response
Select item 1276109	NM_019076.5(UGT1A8):c.856-5794C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293940	NM_019076.5(UGT1A8):c.856-113C>T	UGT1A3, UGT1A4 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993392	NM_000463.3(UGT1A1):c.996+18C>T	UGT1A1, UGT1A +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293898	NM_019076.5(UGT1A8):c.987+307A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251180	NM_019076.5(UGT1A8):c.988-100_988-99dup	UGT1A, UGT1A1 +8 more	Duplication (intron variant)	not provided	GBenign
Select item 1277976	NM_019076.5(UGT1A8):c.988-83C>T	UGT1A7, UGT1A8 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277377	NM_019076.5(UGT1A8):c.988-82T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261103	NM_019076.5(UGT1A8):c.988-37T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420162	NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)	UGT1A, UGT1A1 +8 more (G362S +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1293905	NM_019076.5(UGT1A8):c.1076-79G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A7, UGT1A8 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity; other
Select item 1271686	NM_019076.5(UGT1A8):c.1296-229A>C	UGT1A7, UGT1A8 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 286999	NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	UGT1A3, UGT1A4 +8 more (R442C +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +6 more	GUncertain significance
Select item 335084	NM_000463.3(UGT1A1):c.*211T>C	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (3 prime UTR variant)	Crigler-Najjar syndrome +3 more	GBenign/Likely benign

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Items: 31