"Ambry Genetics"[submitter] AND "ARTN"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2330213	NM_057091.3(ARTN):c.13C>G (p.Leu5Val)	ARTN (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316819	NM_057091.3(ARTN):c.29C>A (p.Thr10Lys)	ARTN (T10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316818	NM_057091.3(ARTN):c.29C>T (p.Thr10Met)	ARTN (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316821	NM_057091.3(ARTN):c.43C>T (p.Pro15Ser)	ARTN (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316823	NM_057091.3(ARTN):c.137G>A (p.Arg46His)	ARTN (R46H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343464	NM_057091.3(ARTN):c.215G>A (p.Arg72His)	ARTN (R80H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129967	NM_057091.3(ARTN):c.283C>T (p.Pro95Ser)	ARTN (P103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457660	NM_057091.3(ARTN):c.298C>A (p.Pro100Thr)	ARTN (P100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129968	NM_057091.3(ARTN):c.328G>A (p.Gly110Ser)	ARTN (G118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298597	NM_057091.3(ARTN):c.346C>G (p.Arg116Gly)	ARTN (R116G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458994	NM_057091.3(ARTN):c.419G>A (p.Arg140His)	ARTN (R140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350295	NM_057091.3(ARTN):c.429G>C (p.Glu143Asp)	ARTN (E151D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129969	NM_057091.3(ARTN):c.469G>T (p.Ala157Ser)	ARTN (A157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316820	NM_057091.3(ARTN):c.472C>T (p.Arg158Cys)	ARTN (R166C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129970	NM_057091.3(ARTN):c.485A>G (p.Asp162Gly)	ARTN (D162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129971	NM_057091.3(ARTN):c.560G>A (p.Cys187Tyr)	ARTN, LOC129930396 (C187Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129972	NM_057091.3(ARTN):c.586G>A (p.Val196Ile)	ARTN, LOC129930396 (V196I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129973	NM_057091.3(ARTN):c.602T>A (p.Val201Asp)	ARTN, LOC129930396 (V209D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478398	NM_057091.3(ARTN):c.611C>T (p.Thr204Ile)	ARTN, LOC129930396 (T204I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129974	NM_057091.3(ARTN):c.617G>A (p.Arg206Lys)	ARTN, LOC129930396 (R206K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20