"ITMI"[submitter] AND "INSL6"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134559	NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)	JAK2, INSL6 (G127D)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 134558	NM_004972.4(JAK2):c.406A>T (p.Ile136Leu)	INSL6, JAK2 (I136L)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134561	NM_004972.4(JAK2):c.718T>C (p.Phe240Leu)	INSL6, JAK2 (F240L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134560	NM_004972.4(JAK2):c.721A>C (p.Ser241Arg)	INSL6, JAK2 (S241R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134562	NM_004972.4(JAK2):c.1009A>G (p.Asn337Asp)	INSL6, JAK2 (N337D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 134564	NM_004972.4(JAK2):c.1174G>A (p.Val392Met)	JAK2, INSL6 (V392M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 134563	NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)	JAK2, INSL6 (L393V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 134550	NM_004972.4(JAK2):c.1700T>C (p.Val567Ala)	INSL6, JAK2 (V567A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 134551	NM_004972.4(JAK2):c.2011C>T (p.His671Tyr)	INSL6, JAK2 (H671Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 134552	NM_004972.4(JAK2):c.2171T>C (p.Ile724Thr)	INSL6, JAK2 (I724T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 134553	NM_004972.4(JAK2):c.2538G>C (p.Glu846Asp)	INSL6, JAK2 (E846D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 134554	NM_004972.4(JAK2):c.2882G>C (p.Cys961Ser)	INSL6, JAK2 (C961S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 134556	NM_004972.4(JAK2):c.3288T>A (p.Asp1096Glu)	INSL6, JAK2 (D1096E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 134557	NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser)	INSL6, JAK2 (N1108S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity