"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "INSL6"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328042	NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)	INSL6, JAK2 (G48E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136729	NM_004972.4(JAK2):c.322A>G (p.Thr108Ala)	INSL6, JAK2 (T108A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 134563	NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)	INSL6, JAK2 (L393V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2659043	NM_004972.4(JAK2):c.1337T>G (p.Val446Gly)	INSL6, JAK2 (V297G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152719	NM_004972.4(JAK2):c.1542G>A (p.Thr514=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1028834	NM_004972.4(JAK2):c.1641+6T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	JAK2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 726684	NM_004972.4(JAK2):c.1686C>T (p.Gly562=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631000	NM_004972.4(JAK2):c.1767C>A (p.Asn589Lys)	INSL6, JAK2 (N184K +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related condition +1 more	GUncertain significance
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 3 +6 more	GConflicting classifications of pathogenicity
Select item 2168697	NM_004972.4(JAK2):c.1860C>T (p.Asp620=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 624353	NM_004972.4(JAK2):c.2167T>A (p.Cys723Ser)	JAK2, INSL6 (C723S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659044	NM_004972.4(JAK2):c.2279A>C (p.Gln760Pro)	INSL6, JAK2 (Q355P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 585092	NM_004972.4(JAK2):c.2571+5A>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 367131	NM_004972.4(JAK2):c.2762-10_2762-9del	INSL6, JAK2	Deletion (intron variant)	Budd-Chiari syndrome +1 more	GConflicting classifications of pathogenicity
Select item 738509	NM_004972.4(JAK2):c.2988G>A (p.Gly996=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659045	NM_004972.4(JAK2):c.3060-9020del	INSL6, JAK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2659046	NM_004972.4(JAK2):c.3060-8884G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659047	NM_004972.4(JAK2):c.3060-8746G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659048	NM_004972.4(JAK2):c.3060-8380G>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
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 condition +8 more	GBenign/Likely benign
Select item 134557	NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser)	JAK2, INSL6 (N1108S +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1336052	NM_004972.4(JAK2):c.*4A>C	INSL6, JAK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign

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Items: 22