POGLUT3[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 3308253	NM_153705.5(POGLUT3):c.1511G>C (p.Arg504Thr)	POGLUT3 (R366T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216255	NM_153705.5(POGLUT3):c.1493A>T (p.His498Leu)	POGLUT3 (H463L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216254	NM_153705.5(POGLUT3):c.1456C>T (p.Pro486Ser)	POGLUT3 (P348S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216253	NM_153705.5(POGLUT3):c.1435C>T (p.Arg479Cys)	POGLUT3 (R444C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488381	NM_153705.5(POGLUT3):c.1420A>T (p.Ser474Cys)	POGLUT3 (S336C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308251	NM_153705.5(POGLUT3):c.1285T>C (p.Trp429Arg)	POGLUT3 (W291R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618149	NM_153705.5(POGLUT3):c.1184A>C (p.Gln395Pro)	POGLUT3 (Q257P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551850	NM_153705.5(POGLUT3):c.1162G>C (p.Gly388Arg)	POGLUT3 (G250R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308252	NM_153705.5(POGLUT3):c.1150T>C (p.Tyr384His)	POGLUT3 (Y246H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216252	NM_153705.5(POGLUT3):c.1129G>T (p.Val377Leu)	POGLUT3 (V239L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216251	NM_153705.5(POGLUT3):c.1051A>G (p.Lys351Glu)	POGLUT3 (K351E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216276	NM_153705.5(POGLUT3):c.989A>C (p.Lys330Thr)	POGLUT3 (K330T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520842	NM_153705.5(POGLUT3):c.976G>A (p.Val326Ile)	POGLUT3 (V326I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216274	NM_153705.5(POGLUT3):c.886A>C (p.Ile296Leu)	POGLUT3 (I296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611064	NM_153705.5(POGLUT3):c.862G>T (p.Gly288Cys)	POGLUT3 (G288C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308250	NM_153705.5(POGLUT3):c.824C>T (p.Thr275Met)	POGLUT3 (T275M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216270	NM_153705.5(POGLUT3):c.629A>C (p.Lys210Thr)	POGLUT3 (K210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216269	NM_153705.5(POGLUT3):c.618A>T (p.Arg206Ser)	POGLUT3 (R206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216268	NM_153705.5(POGLUT3):c.613C>T (p.Arg205Trp)	POGLUT3 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216267	NM_153705.5(POGLUT3):c.590C>T (p.Thr197Met)	POGLUT3 (T197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216266	NM_153705.5(POGLUT3):c.577A>G (p.Ile193Val)	POGLUT3 (I193V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216265	NM_153705.5(POGLUT3):c.566A>G (p.Glu189Gly)	POGLUT3 (E189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308254	NM_153705.5(POGLUT3):c.559G>A (p.Gly187Arg)	POGLUT3 (G187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216264	NM_153705.5(POGLUT3):c.544G>T (p.Val182Phe)	POGLUT3 (V182F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308255	NM_153705.5(POGLUT3):c.473C>T (p.Thr158Ile)	POGLUT3 (T158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495990	NM_153705.5(POGLUT3):c.443A>G (p.Gln148Arg)	POGLUT3 (Q148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216262	NM_153705.5(POGLUT3):c.433G>A (p.Glu145Lys)	POGLUT3 (E145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216261	NM_153705.5(POGLUT3):c.388T>C (p.Tyr130His)	POGLUT3 (Y130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216260	NM_153705.5(POGLUT3):c.345G>T (p.Lys115Asn)	POGLUT3 (K115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216259	NM_153705.5(POGLUT3):c.292G>A (p.Gly98Arg)	POGLUT3 (G98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538979	NM_153705.5(POGLUT3):c.257G>A (p.Arg86Gln)	POGLUT3 (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216258	NM_153705.5(POGLUT3):c.248A>T (p.Glu83Val)	POGLUT3 (E83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216257	NM_153705.5(POGLUT3):c.247G>A (p.Glu83Lys)	POGLUT3 (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216256	NM_153705.5(POGLUT3):c.152A>G (p.Tyr51Cys)	LOC130006704, POGLUT3 (Y51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520144	NM_153705.5(POGLUT3):c.143G>A (p.Arg48His)	LOC130006704, POGLUT3 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216250	NM_153705.5(POGLUT3):c.104G>C (p.Trp35Ser)	LOC130006704, POGLUT3 (W35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216275	NM_153705.5(POGLUT3):c.92G>A (p.Arg31Gln)	LOC130006704, POGLUT3 (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459305	NM_153705.5(POGLUT3):c.85G>T (p.Ala29Ser)	LOC130006704, POGLUT3 (A29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216272	NM_153705.5(POGLUT3):c.68C>G (p.Pro23Arg)	LOC130006704, POGLUT3 (P23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216271	NM_153705.5(POGLUT3):c.64G>A (p.Ala22Thr)	LOC130006704, POGLUT3 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216263	NM_153705.5(POGLUT3):c.46C>A (p.Leu16Met)	LOC130006704, POGLUT3 (L16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216273	NM_153705.5(POGLUT3):c.7C>T (p.Arg3Cys)	LOC130006704, POGLUT3 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244501	NC_000011.9:g.(?_108206552)_(108369093_?)dup	ATM, C11orf65 +1 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1371903	NC_000011.9:g.(?_107992334)_(108464263_?)dup	ACAT1, ATM +4 more	Duplication	Deficiency of acetyl-CoA acetyltransferase +1 more	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563859	GRCh37/hg19 11q22.3(chr11:108067009-108861566)x3	C11orf65, EXPH5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 61