EXTL2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091298	NM_001033025.3(EXTL2):c.895A>C (p.Lys299Gln)	EXTL2 (K299Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363865	NM_001033025.3(EXTL2):c.834T>A (p.Ser278Arg)	EXTL2 (S277R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332560	NM_001033025.3(EXTL2):c.704C>T (p.Ala235Val)	EXTL2 (A243V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091297	NM_001033025.3(EXTL2):c.493T>G (p.Ser165Ala)	EXTL2 (S165A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091296	NM_001033025.3(EXTL2):c.473C>T (p.Pro158Leu)	EXTL2 (P158L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524127	NM_001033025.3(EXTL2):c.356T>C (p.Ile119Thr)	EXTL2 (I119T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569948	NM_001033025.3(EXTL2):c.320C>A (p.Pro107Gln)	EXTL2 (P107Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484101	NM_001033025.3(EXTL2):c.268C>T (p.Pro90Ser)	EXTL2 (P90S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091295	NM_001033025.3(EXTL2):c.265G>A (p.Val89Ile)	EXTL2 (V97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3276873	NM_001033025.3(EXTL2):c.187A>T (p.Met63Leu)	EXTL2 (M63L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2230642	NM_001033025.3(EXTL2):c.113C>T (p.Ala38Val)	EXTL2 (A38V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276872	NM_001033025.3(EXTL2):c.89T>C (p.Leu30Ser)	EXTL2 (L38S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338084	NM_001033025.3(EXTL2):c.32G>A (p.Gly11Glu)	EXTL2 (G11E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205120	NM_001033025.3(EXTL2):c.16A>G (p.Ile6Val)	EXTL2 (I14V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance