"PreventionGenetics, part of Exact Sciences"[submitter] AND "INSL6"[ge - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046234	NM_004972.4(JAK2):c.364C>T (p.Arg122Cys)	INSL6, JAK2 (R122C)	Single nucleotide variant (missense variant +2 more)	JAK2-related disorder	GUncertain significance
Select item 721421	NM_004972.4(JAK2):c.579C>T (p.Asn193=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 724741	NM_004972.4(JAK2):c.731A>G (p.Lys244Arg)	JAK2, INSL6 (K244R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2629226	NM_004972.4(JAK2):c.743G>C (p.Arg248Thr)	INSL6, JAK2 (R248T +1 more)	Single nucleotide variant (missense variant +2 more)	JAK2-related disorder	GUncertain significance
Select item 2629211	NM_004972.4(JAK2):c.827G>C (p.Gly276Ala)	INSL6, JAK2 (G127A +1 more)	Single nucleotide variant (missense variant +2 more)	JAK2-related disorder	GUncertain significance
Select item 2634732	NM_004972.4(JAK2):c.844GAG[1] (p.Glu283del)	INSL6, JAK2 (E134del +1 more)	Microsatellite (inframe_deletion +3 more)	JAK2-related disorder	GUncertain significance
Select item 134562	NM_004972.4(JAK2):c.1009A>G (p.Asn337Asp)	INSL6, JAK2 (N337D +1 more)	Single nucleotide variant (missense variant +2 more)	JAK2-related disorder +1 more	GBenign/Likely benign
Select item 3058705	NM_004972.4(JAK2):c.1014A>G (p.Glu338=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	JAK2-related disorder	GLikely benign
Select item 2634895	NM_004972.4(JAK2):c.1096G>A (p.Val366Met)	INSL6, JAK2 (V217M +1 more)	Single nucleotide variant (missense variant +2 more)	JAK2-related disorder	GUncertain significance
Select item 3030854	NM_004972.4(JAK2):c.1266G>A (p.Leu422=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 3055558	NM_004972.4(JAK2):c.1290G>A (p.Lys430=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 2637003	NM_004972.4(JAK2):c.1407G>T (p.Lys469Asn)	INSL6, JAK2 (K320N +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder +1 more	GUncertain significance
Select item 3058353	NM_004972.4(JAK2):c.1436A>C (p.Asn479Thr)	INSL6, JAK2 (N330T +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 2631885	NM_004972.4(JAK2):c.1471A>G (p.Ile491Val)	INSL6, JAK2 (I342V +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 1028834	NM_004972.4(JAK2):c.1641+6T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	Acquired polycythemia vera +7 more	GConflicting classifications of pathogenicity
Select item 376706	NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)	JAK2, INSL6 (R564L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2631000	NM_004972.4(JAK2):c.1767C>A (p.Asn589Lys)	INSL6, JAK2 (N184K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1256675	NM_004972.4(JAK2):c.1929T>C (p.Asn643=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder +1 more	GBenign
Select item 3035672	NM_004972.4(JAK2):c.2015G>T (p.Gly672Val)	INSL6, JAK2 (G267V +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 2184832	NM_004972.4(JAK2):c.2071A>C (p.Asn691His)	INSL6, JAK2 (N542H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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)	JAK2-related disorder +1 more	GLikely benign
Select item 2635254	NM_004972.4(JAK2):c.2186A>T (p.Asn729Ile)	INSL6, JAK2 (N324I +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3032403	NM_004972.4(JAK2):c.2420G>A (p.Ser807Asn)	INSL6, JAK2 (S402N +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 788275	NM_004972.4(JAK2):c.2488C>T (p.Leu830=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2632841	NM_004972.4(JAK2):c.2557C>T (p.Gln853Ter)	INSL6, JAK2 (Q448* +2 more)	Single nucleotide variant (nonsense +1 more)	JAK2-related disorder	GUncertain significance
Select item 2631224	NM_004972.4(JAK2):c.2582G>A (p.Gly861Glu)	INSL6, JAK2 (G456E +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3046983	NM_004972.4(JAK2):c.2628G>A (p.Gly876=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 2078814	NM_004972.4(JAK2):c.2681A>G (p.Asp894Gly)	INSL6, JAK2 (D894G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2072623	NM_004972.4(JAK2):c.2696T>C (p.Ile899Thr)	INSL6, JAK2 (I750T +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 797867	NM_004972.4(JAK2):c.2712C>A (p.Ser904=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2636010	NM_004972.4(JAK2):c.2768G>A (p.Arg923His)	INSL6, JAK2 (R518H +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 3049436	NM_004972.4(JAK2):c.2803G>A (p.Gly935Arg)	INSL6, JAK2 (G530R +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder	GUncertain significance
Select item 2058254	NM_004972.4(JAK2):c.3177G>A (p.Ala1059=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder +8 more	GBenign/Likely benign
Select item 3036432	NM_004972.4(JAK2):c.3262T>C (p.Leu1088=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	JAK2-related disorder	GLikely benign
Select item 2059333	NM_004972.4(JAK2):c.3291+6A>C	JAK2, INSL6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 735851	NM_004972.4(JAK2):c.3378A>C (p.Ile1126=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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Items: 37