LOC130006704[gene] - ClinVar - NCBI

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Items: 11

	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	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
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