INSL6[gene] and "single gene"[properties] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2408042	NM_007179.3(INSL6):c.625G>T (p.Val209Leu)	INSL6 (V209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308962	NM_007179.3(INSL6):c.595A>G (p.Lys199Glu)	INSL6 (K199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313393	NM_007179.3(INSL6):c.580C>G (p.Pro194Ala)	INSL6 (P194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318345	NM_007179.3(INSL6):c.571G>T (p.Ala191Ser)	INSL6 (A191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286152	NM_007179.3(INSL6):c.521A>T (p.Tyr174Phe)	INSL6 (Y174F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286155	NM_007179.3(INSL6):c.518G>A (p.Gly173Glu)	INSL6 (G173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286153	NM_007179.3(INSL6):c.517G>A (p.Gly173Arg)	INSL6 (G173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286154	NM_007179.3(INSL6):c.515G>A (p.Arg172Lys)	INSL6 (R172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109916	NM_007179.3(INSL6):c.490G>T (p.Gly164Trp)	INSL6 (G164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490677	NM_007179.3(INSL6):c.470C>G (p.Thr157Ser)	INSL6 (T157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207199	NM_007179.3(INSL6):c.421A>T (p.Ile141Phe)	INSL6 (I141F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286149	NM_007179.3(INSL6):c.407A>T (p.Asn136Ile)	INSL6 (N136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785275	NM_007179.3(INSL6):c.404A>G (p.His135Arg)	INSL6 (H135R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297849	NM_007179.3(INSL6):c.388G>A (p.Glu130Lys)	INSL6 (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516657	NM_007179.3(INSL6):c.314T>C (p.Val105Ala)	INSL6 (V105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711042	NM_007179.3(INSL6):c.290-1G>A	INSL6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2600757	NM_007179.3(INSL6):c.269G>A (p.Arg90Gln)	INSL6 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156524	NM_007179.3(INSL6):c.262_263del (p.Pro88fs)	INSL6 (P88fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2473718	NM_007179.3(INSL6):c.232T>A (p.Tyr78Asn)	INSL6 (Y78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776763	NM_007179.3(INSL6):c.222C>G (p.Ala74=)	INSL6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3286150	NM_007179.3(INSL6):c.221C>T (p.Ala74Val)	INSL6 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109914	NM_007179.3(INSL6):c.217G>A (p.Glu73Lys)	INSL6 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109913	NM_007179.3(INSL6):c.201G>T (p.Gln67His)	INSL6 (Q67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358910	NM_007179.3(INSL6):c.176C>T (p.Thr59Ile)	INSL6 (T59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279611	NM_007179.3(INSL6):c.146A>T (p.Asn49Ile)	INSL6 (N49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726096	NM_007179.3(INSL6):c.105G>A (p.Arg35=)	INSL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218224	NM_007179.3(INSL6):c.56T>A (p.Phe19Tyr)	INSL6 (F19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368785	NM_007179.3(INSL6):c.46C>G (p.Leu16Val)	INSL6 (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109915	NM_007179.3(INSL6):c.31T>C (p.Trp11Arg)	INSL6 (W11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286148	NM_007179.3(INSL6):c.29T>G (p.Leu10Arg)	INSL6 (L10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286151	NM_007179.3(INSL6):c.16C>T (p.Arg6Cys)	INSL6 (R6C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1341072	GRCh37/hg19 9p24.1(chr9:5129394-5216151)x1	INSL6	Copy number loss	not provided	GLikely benign
Select item 980900	GRCh37/hg19 9p24.1(chr9:5129394-5213986)x1	INSL6	Copy number loss	not provided	GUncertain significance
Select item 395073	GRCh37/hg19 9p24.1(chr9:5132122-5164251)x1	INSL6	Copy number loss	See cases	GLikely benign

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Items: 34