"Ambry Genetics"[submitter] AND "IGSF6"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285670	NM_005849.4(IGSF6):c.717A>T (p.Glu239Asp)	IGSF6, METTL9 (E239D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333170	NM_005849.4(IGSF6):c.698G>T (p.Arg233Ile)	IGSF6, METTL9 (R233I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556039	NM_005849.4(IGSF6):c.635A>G (p.His212Arg)	IGSF6, METTL9 (H212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219992	NM_005849.4(IGSF6):c.602G>A (p.Arg201His)	IGSF6, METTL9 (R201H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108929	NM_005849.4(IGSF6):c.588G>C (p.Lys196Asn)	IGSF6, METTL9 (K196N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108928	NM_005849.4(IGSF6):c.550C>A (p.Leu184Ile)	IGSF6, METTL9 (L184I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561251	NM_005849.4(IGSF6):c.548C>T (p.Pro183Leu)	IGSF6, METTL9 (P183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108927	NM_005849.4(IGSF6):c.532A>G (p.Lys178Glu)	IGSF6, METTL9 (K178E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108926	NM_005849.4(IGSF6):c.511G>A (p.Val171Met)	IGSF6, METTL9 (V171M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217298	NM_005849.4(IGSF6):c.497T>C (p.Val166Ala)	IGSF6, METTL9 (V166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285669	NM_005849.4(IGSF6):c.470C>T (p.Ala157Val)	IGSF6, METTL9 (A157V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489988	NM_005849.4(IGSF6):c.392A>G (p.Lys131Arg)	IGSF6, METTL9 (K131R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285671	NM_005849.4(IGSF6):c.263A>C (p.Asp88Ala)	IGSF6, METTL9 (D88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108925	NM_005849.4(IGSF6):c.214G>T (p.Ala72Ser)	IGSF6, METTL9 (A72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108924	NM_005849.4(IGSF6):c.143C>T (p.Thr48Ile)	IGSF6, METTL9 (T48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285672	NM_005849.4(IGSF6):c.115G>C (p.Glu39Gln)	IGSF6, METTL9 (E39Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238043	NM_005849.4(IGSF6):c.104C>T (p.Pro35Leu)	IGSF6, METTL9 (P35L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546269	NM_005849.4(IGSF6):c.71C>T (p.Ala24Val)	IGSF6, METTL9 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370780	NM_005849.4(IGSF6):c.62G>A (p.Cys21Tyr)	IGSF6, METTL9 (C21Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2614616	NM_005849.4(IGSF6):c.28G>A (p.Ala10Thr)	IGSF6, METTL9 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614615	NM_005849.4(IGSF6):c.21C>A (p.Ser7Arg)	IGSF6, METTL9 (S7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602634	NM_005849.4(IGSF6):c.5G>A (p.Gly2Glu)	IGSF6, METTL9 (G2E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 22