LOC105377267[gene] - ClinVar

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Items: 71

	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 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	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 155511	GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3	LOC105377267, LOC111589210 +11 more	Copy number gain	See cases	GUncertain significance
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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152287	GRCh38/hg38 4q13.2-13.3(chr4:68796335-69850009)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 155054	GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 160854	GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3	LOC105377267, LOC111589210 +21 more	Copy number gain	See cases	GUncertain significance
Select item 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 150984	GRCh38/hg38 4q13.2-13.3(chr4:69148377-69464746)x1	LOC105377267, LOC129389215 +3 more	Copy number loss	See cases	GLikely benign
Select item 3186176	NM_001073.3(UGT2B11):c.1451C>G (p.Thr484Ser)	LOC105377267, UGT2B11 (T484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186175	NM_001073.3(UGT2B11):c.1415G>T (p.Gly472Val)	LOC105377267, UGT2B11 (G472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388345	NM_001073.3(UGT2B11):c.1388G>C (p.Trp463Ser)	LOC105377267, UGT2B11 (W463S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233140	NM_001073.3(UGT2B11):c.1376G>A (p.Arg459Gln)	LOC105377267, UGT2B11 (R459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681634	NM_001073.3(UGT2B11):c.1324A>G (p.Ile442Val)	LOC105377267, UGT2B11 (I442V)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2254722	NM_001073.3(UGT2B11):c.1286T>C (p.Leu429Pro)	LOC105377267, UGT2B11 (L429P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186174	NM_001073.3(UGT2B11):c.1271A>G (p.Asp424Gly)	LOC105377267, UGT2B11 (D424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210716	NM_001073.3(UGT2B11):c.1252A>C (p.Asn418His)	LOC105377267, UGT2B11 (N418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468209	NM_001073.3(UGT2B11):c.1198C>T (p.Pro400Ser)	LOC105377267, UGT2B11 (P400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186173	NM_001073.3(UGT2B11):c.1190T>C (p.Phe397Ser)	LOC105377267, UGT2B11 (F397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186172	NM_001073.3(UGT2B11):c.1189T>G (p.Phe397Val)	LOC105377267, UGT2B11 (F397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479007	NM_001073.3(UGT2B11):c.1156C>T (p.His386Tyr)	LOC105377267, UGT2B11 (H386Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654783	NM_001073.3(UGT2B11):c.1091G>A (p.Gly364Asp)	LOC105377267, UGT2B11 (G364D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2476215	NM_001073.3(UGT2B11):c.1068G>T (p.Trp356Cys)	LOC105377267, UGT2B11 (W356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550694	NM_001073.3(UGT2B11):c.1049A>G (p.Asn350Ser)	LOC105377267, UGT2B11 (N350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611909	NM_001073.3(UGT2B11):c.1045C>A (p.Leu349Ile)	LOC105377267, UGT2B11 (L349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467199	NM_001073.3(UGT2B11):c.970A>G (p.Ile324Val)	LOC105377267, UGT2B11 (I324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471354	NM_001073.3(UGT2B11):c.841C>T (p.His281Tyr)	LOC105377267, UGT2B11 (H281Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555024	NM_001073.3(UGT2B11):c.829G>A (p.Val277Ile)	LOC105377267, UGT2B11 (V277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272925	NM_001073.3(UGT2B11):c.828T>G (p.Phe276Leu)	LOC105377267, UGT2B11 (F276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387677	NM_001073.3(UGT2B11):c.820G>A (p.Val274Ile)	LOC105377267, UGT2B11 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319332	NM_001073.3(UGT2B11):c.790T>A (p.Phe264Ile)	LOC105377267, UGT2B11 (F264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330860	NM_001073.3(UGT2B11):c.740T>C (p.Phe247Ser)	LOC105377267, UGT2B11 (F247S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555023	NM_001073.3(UGT2B11):c.727C>T (p.Pro243Ser)	LOC105377267, UGT2B11 (P243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186183	NM_001073.3(UGT2B11):c.697G>A (p.Asp233Asn)	LOC105377267, UGT2B11 (D233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526268	NM_001073.3(UGT2B11):c.684T>A (p.Asp228Glu)	LOC105377267, UGT2B11 (D228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304777	NM_001073.3(UGT2B11):c.652C>A (p.Leu218Ile)	LOC105377267, UGT2B11 (L218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333321	NM_001073.3(UGT2B11):c.646T>C (p.Tyr216His)	LOC105377267, UGT2B11 (Y216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330858	NM_001073.3(UGT2B11):c.639T>A (p.Asn213Lys)	LOC105377267, UGT2B11 (N213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303309	NM_001073.3(UGT2B11):c.571C>T (p.Pro191Ser)	LOC105377267, UGT2B11 (P191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186182	NM_001073.3(UGT2B11):c.550A>T (p.Ser184Cys)	LOC105377267, UGT2B11 (S184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522629	NM_001073.3(UGT2B11):c.538A>G (p.Ile180Val)	LOC105377267, UGT2B11 (I180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186181	NM_001073.3(UGT2B11):c.500G>C (p.Arg167Pro)	LOC105377267, UGT2B11 (R167P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410311	NM_001073.3(UGT2B11):c.485C>T (p.Ala162Val)	LOC105377267, UGT2B11 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186180	NM_001073.3(UGT2B11):c.467G>A (p.Cys156Tyr)	LOC105377267, UGT2B11 (C156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614892	NM_001073.3(UGT2B11):c.431G>T (p.Arg144Ile)	LOC105377267, UGT2B11 (R144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482895	NM_001073.3(UGT2B11):c.422A>T (p.Gln141Leu)	LOC105377267, UGT2B11 (Q141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186179	NM_001073.3(UGT2B11):c.368T>C (p.Phe123Ser)	LOC105377267, UGT2B11 (F123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330857	NM_001073.3(UGT2B11):c.362A>G (p.Asp121Gly)	LOC105377267, UGT2B11 (D121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381330	NM_001073.3(UGT2B11):c.358T>C (p.Tyr120His)	LOC105377267, UGT2B11 (Y120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381329	NM_001073.3(UGT2B11):c.357A>T (p.Leu119Phe)	LOC105377267, UGT2B11 (L119F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523483	NM_001073.3(UGT2B11):c.325T>A (p.Phe109Ile)	LOC105377267, UGT2B11 (F109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186177	NM_001073.3(UGT2B11):c.268A>G (p.Ile90Val)	LOC105377267, UGT2B11 (I90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204347	NM_001073.3(UGT2B11):c.265A>G (p.Ile89Val)	LOC105377267, UGT2B11 (I89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620310	NM_001073.3(UGT2B11):c.263A>G (p.Asn88Ser)	LOC105377267, UGT2B11 (N88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333612	NM_001073.3(UGT2B11):c.260A>G (p.Glu87Gly)	LOC105377267, UGT2B11 (E87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326843	NM_001073.3(UGT2B11):c.220T>C (p.Phe74Leu)	LOC105377267, UGT2B11 (F74L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387730	NM_001073.3(UGT2B11):c.219A>C (p.Lys73Asn)	LOC105377267, UGT2B11 (K73N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560809	NM_001073.3(UGT2B11):c.181T>A (p.Ser61Thr)	LOC105377267, UGT2B11 (S61T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2654784	NM_001073.3(UGT2B11):c.144G>A (p.Gln48=)	LOC105377267, UGT2B11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3330859	NM_001073.3(UGT2B11):c.103C>T (p.His35Tyr)	LOC105377267, UGT2B11 (H35Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323517	NM_001073.3(UGT2B11):c.95A>T (p.Glu32Val)	LOC105377267, UGT2B11 (E32V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3186184	NM_001073.3(UGT2B11):c.91G>A (p.Ala31Thr)	LOC105377267, UGT2B11 (A31T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2312922	NM_001073.3(UGT2B11):c.62G>C (p.Gly21Ala)	LOC105377267, UGT2B11 (G21A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3186178	NM_001073.3(UGT2B11):c.35T>C (p.Ile12Thr)	LOC105377267, UGT2B11 (I12T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469186	NM_001073.3(UGT2B11):c.23T>C (p.Val8Ala)	LOC105377267, UGT2B11 (V8A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 71