"Ambry Genetics"[submitter] AND "IGLL5"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2336100	NM_001178126.2(IGLL5):c.10A>C (p.Lys4Gln)	IGL, IGLL5 (K4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108767	NM_001178126.2(IGLL5):c.83T>G (p.Leu28Arg)	IGL, IGLL5 (L28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496118	NM_001178126.2(IGLL5):c.104C>T (p.Ala35Val)	IGL, IGLL5 (A35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225079	NM_001178126.2(IGLL5):c.119G>A (p.Arg40His)	IGL, IGLL5 (A5T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515707	NM_001178126.2(IGLL5):c.121C>T (p.Pro41Ser)	IGL, IGLL5 (P41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484652	NM_001178126.2(IGLL5):c.179G>C (p.Arg60Pro)	IGL, IGLL5 (R60P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108759	NM_001178126.2(IGLL5):c.236C>T (p.Ala79Val)	IGL, IGLL5 (A79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543720	NM_001178126.2(IGLL5):c.323T>C (p.Leu108Pro)	IGL, IGLJ1 +1 more (L108P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108761	NM_001178126.2(IGLL5):c.344C>T (p.Pro115Leu)	IGL, IGLC1 +1 more (P40L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108762	NM_001178126.2(IGLL5):c.427C>T (p.Pro143Ser)	IGL, IGLC1 +1 more (P68S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519453	NM_001178126.2(IGLL5):c.445G>A (p.Ala149Thr)	IGL, IGLC1 +1 more (A149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108763	NM_001178126.2(IGLL5):c.469G>A (p.Val157Ile)	IGL, IGLC1 +1 more (V157I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258788	NM_001178126.2(IGLL5):c.494A>C (p.Lys165Thr)	IGL, IGLC1 +1 more (K165T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295918	NM_001178126.2(IGLL5):c.508A>C (p.Ser170Arg)	IGL, IGLC1 +1 more (S95R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331353	NM_001178126.2(IGLL5):c.524C>T (p.Ala175Val)	IGL, IGLC1 +1 more (A100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412076	NM_001178126.2(IGLL5):c.548C>T (p.Thr183Met)	IGL, IGLC1 +1 more (T183M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108764	NM_001178126.2(IGLL5):c.587A>G (p.Gln196Arg)	IGL, IGLC1 +1 more (Q121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532594	NM_001178126.2(IGLL5):c.610G>A (p.Val204Met)	IGL, IGLC1 +1 more (V129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108766	NM_001178126.2(IGLL5):c.637T>C (p.Cys213Arg)	IGL, IGLC1 +1 more (C213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance