7367[geneid] - ClinVar

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Items: 86

	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 145379	GRCh38/hg38 4q13.2(chr4:68410654-68727128)x3	TMPRSS11E, UGT2B15 +1 more	Copy number gain	See cases	GBenign
Select item 150066	GRCh38/hg38 4q13.2(chr4:68471568-68617567)x3	TMPRSS11E, UGT2B17	Copy number gain	See cases	GLikely benign
Select item 155511	GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3	LOC105377267, LOC111589210 +11 more	Copy number gain	See cases	GUncertain significance
Select item 150679	GRCh38/hg38 4q13.2(chr4:68508935-68617567)x3	UGT2B17	Copy number gain	See cases	GLikely benign
Select item 150483	GRCh38/hg38 4q13.2(chr4:68508935-68626378)x3	UGT2B17	Copy number gain	See cases	GLikely benign
Select item 149782	GRCh38/hg38 4q13.2(chr4:68508935-68647669)x3	UGT2B15, UGT2B17	Copy number gain	See cases	GLikely benign
Select item 147117	GRCh38/hg38 4q13.2(chr4:68509451-68568203)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 147116	GRCh38/hg38 4q13.2(chr4:68509451-68568203)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147032	GRCh38/hg38 4q13.2(chr4:68509451-68596407)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 147031	GRCh38/hg38 4q13.2(chr4:68509451-68596407)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147015	GRCh38/hg38 4q13.2(chr4:68509451-68617530)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 147014	GRCh38/hg38 4q13.2(chr4:68509451-68617530)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 146955	GRCh38/hg38 4q13.2(chr4:68509452-68617530)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 146954	GRCh38/hg38 4q13.2(chr4:68509452-68617530)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147245	GRCh38/hg38 4q13.2(chr4:68526857-68596407)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 149437	GRCh38/hg38 4q13.2(chr4:68526912-68617567)x1	UGT2B17	Copy number loss	See cases	GLikely benign
Select item 149436	GRCh38/hg38 4q13.2(chr4:68526912-68617567)x3	UGT2B17	Copy number gain	See cases	GLikely benign
Select item 147894	GRCh38/hg38 4q13.2-13.3(chr4:68537073-69610311)x3	LOC105377267, LOC111589210 +18 more	Copy number gain	See cases	GBenign
Select item 3186204	NM_001077.4(UGT2B17):c.1479T>A (p.Asp493Glu)	UGT2B17 (D493E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186203	NM_001077.4(UGT2B17):c.1409G>A (p.Arg470His)	UGT2B17 (R470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264820	NM_001077.4(UGT2B17):c.1363G>T (p.Val455Leu)	UGT2B17 (V455L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036282	NM_001077.4(UGT2B17):c.1362G>A (p.Pro454=)	UGT2B17	Single nucleotide variant (synonymous variant)	UGT2B17-related disorder	GLikely benign
Select item 789998	NM_001077.4(UGT2B17):c.1348C>T (p.His450Tyr)	UGT2B17 (H450Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3186202	NM_001077.4(UGT2B17):c.1278G>C (p.Leu426Phe)	UGT2B17 (L426F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490828	NM_001077.4(UGT2B17):c.1269T>A (p.Ser423Arg)	UGT2B17 (S423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610233	NM_001077.4(UGT2B17):c.1238C>A (p.Ala413Asp)	UGT2B17 (A413D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361297	NM_001077.4(UGT2B17):c.1193C>A (p.Ala398Glu)	UGT2B17 (A398E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059332	NM_001077.4(UGT2B17):c.1152A>G (p.Ala384=)	UGT2B17	Single nucleotide variant (synonymous variant)	UGT2B17-related disorder	GBenign
Select item 3186201	NM_001077.4(UGT2B17):c.1150G>A (p.Ala384Thr)	UGT2B17 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719410	NM_001077.4(UGT2B17):c.1139G>A (p.Gly380Asp)	UGT2B17 (G380D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2379175	NM_001077.4(UGT2B17):c.1132A>G (p.Thr378Ala)	UGT2B17 (T378A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059019	NM_001077.4(UGT2B17):c.1065T>C (p.Tyr355=)	UGT2B17	Single nucleotide variant (synonymous variant)	UGT2B17-related disorder	GBenign
Select item 2310286	NM_001077.4(UGT2B17):c.1063T>C (p.Tyr355His)	UGT2B17 (Y355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330866	NM_001077.4(UGT2B17):c.950T>A (p.Met317Lys)	UGT2B17 (M317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709197	NM_001077.4(UGT2B17):c.865T>C (p.Leu289=)	UGT2B17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246919	NM_001077.4(UGT2B17):c.826G>T (p.Asp276Tyr)	UGT2B17 (D276Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186207	NM_001077.4(UGT2B17):c.806G>A (p.Arg269His)	UGT2B17 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379225	NM_001077.4(UGT2B17):c.773T>C (p.Leu258Pro)	UGT2B17 (L258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239048	NM_001077.4(UGT2B17):c.655C>T (p.Leu219Phe)	UGT2B17 (L219F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787028	NM_001077.4(UGT2B17):c.541G>A (p.Val181Ile)	UGT2B17 (V181I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2613715	NM_001077.4(UGT2B17):c.538A>G (p.Thr180Ala)	UGT2B17 (T180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306131	NM_001077.4(UGT2B17):c.521G>A (p.Arg174His)	UGT2B17 (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186205	NM_001077.4(UGT2B17):c.500T>C (p.Ile167Thr)	UGT2B17 (I167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059548	NM_001077.4(UGT2B17):c.489G>A (p.Glu163=)	UGT2B17	Single nucleotide variant (synonymous variant)	UGT2B17-related disorder	GBenign
Select item 741275	NM_001077.4(UGT2B17):c.459C>T (p.Ala153=)	UGT2B17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039549	NM_001077.4(UGT2B17):c.440A>T (p.Asp147Val)	UGT2B17 (D147V)	Single nucleotide variant (missense variant)	UGT2B17-related disorder	GBenign
Select item 3052845	NM_001077.4(UGT2B17):c.326A>C (p.Tyr109Ser)	UGT2B17 (Y109S)	Single nucleotide variant (missense variant)	UGT2B17-related disorder	GBenign
Select item 2331372	NM_001077.4(UGT2B17):c.317T>G (p.Phe106Cys)	UGT2B17 (F106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713076	NM_001077.4(UGT2B17):c.311dup (p.Asn104fs)	UGT2B17 (N104fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3044257	NM_001077.4(UGT2B17):c.297T>C (p.Tyr99=)	UGT2B17	Single nucleotide variant (synonymous variant)	UGT2B17-related disorder	GLikely benign
Select item 2271563	NM_001077.4(UGT2B17):c.270T>A (p.Phe90Leu)	UGT2B17 (F90L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042364	NM_001077.4(UGT2B17):c.265T>G (p.Phe89Val)	UGT2B17 (F89V)	Single nucleotide variant (missense variant)	UGT2B17-related disorder	GBenign
Select item 713093	NM_001077.4(UGT2B17):c.253G>T (p.Asp85Tyr)	UGT2B17 (D85Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2404299	NM_001077.4(UGT2B17):c.202A>C (p.Lys68Gln)	UGT2B17 (K68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356588	NM_001077.4(UGT2B17):c.179C>T (p.Ala60Val)	UGT2B17 (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591285	NM_001077.4(UGT2B17):c.133G>C (p.Glu45Gln)	UGT2B17 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330868	NM_001077.4(UGT2B17):c.122C>T (p.Thr41Ile)	UGT2B17 (T41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186206	NM_001077.4(UGT2B17):c.75G>T (p.Lys25Asn)	UGT2B17 (K25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304425	NM_001077.4(UGT2B17):c.17T>A (p.Met6Lys)	UGT2B17 (M6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049182	NM_001077.4(UGT2B17):c.2T>C (p.Met1Thr)	UGT2B17 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1291450	NM_001077.4(UGT2B17):c.-64-91A>G	UGT2B17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	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 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
Select item 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	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 441639	GRCh37/hg19 4q13.2(chr4:69256219-69908707)x3	TMPRSS11E, UGT2A3 +3 more	Copy number gain	See cases	GUncertain significance
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 7631	NC_000004.12:g.(68323330_?)_(?_68725531)del	UGT2B17	Deletion	Bone mineral density quantitative trait locus 12	Gassociation

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Items: 86