"Ambry Genetics"[submitter] AND "NKX2-4"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2389990	NM_033176.2(NKX2-4):c.1010G>T (p.Gly337Val)	NKX2-4 (G337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200368	NM_033176.2(NKX2-4):c.958C>T (p.Pro320Ser)	NKX2-4 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588975	NM_033176.2(NKX2-4):c.917C>G (p.Pro306Arg)	NKX2-4 (P306R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3299913	NM_033176.2(NKX2-4):c.902C>T (p.Pro301Leu)	NKX2-4 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299914	NM_033176.2(NKX2-4):c.884C>T (p.Thr295Ile)	NKX2-4 (T295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607238	NM_033176.2(NKX2-4):c.851G>A (p.Gly284Asp)	NKX2-4 (G284D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200367	NM_033176.2(NKX2-4):c.821G>T (p.Arg274Leu)	NKX2-4 (R274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299915	NM_033176.2(NKX2-4):c.778G>A (p.Gly260Ser)	NKX2-4 (G260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200366	NM_033176.2(NKX2-4):c.718C>T (p.His240Tyr)	NKX2-4 (H240Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299919	NM_033176.2(NKX2-4):c.702G>C (p.Lys234Asn)	NKX2-4 (K234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200365	NM_033176.2(NKX2-4):c.677T>G (p.Ile226Ser)	NKX2-4 (I226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200364	NM_033176.2(NKX2-4):c.596C>A (p.Ala199Glu)	NKX2-4 (A199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200363	NM_033176.2(NKX2-4):c.563C>G (p.Pro188Arg)	NKX2-4 (P188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221334	NM_033176.2(NKX2-4):c.563C>T (p.Pro188Leu)	NKX2-4 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299916	NM_033176.2(NKX2-4):c.545C>T (p.Ala182Val)	NKX2-4 (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364478	NM_033176.2(NKX2-4):c.507C>G (p.Ile169Met)	NKX2-4 (I169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523711	NM_033176.2(NKX2-4):c.482C>T (p.Ala161Val)	NKX2-4 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299917	NM_033176.2(NKX2-4):c.456G>A (p.Met152Ile)	NKX2-4 (M152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200361	NM_033176.2(NKX2-4):c.388G>A (p.Gly130Ser)	NKX2-4 (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605097	NM_033176.2(NKX2-4):c.344T>C (p.Leu115Pro)	NKX2-4 (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352671	NM_033176.2(NKX2-4):c.326G>C (p.Ser109Thr)	NKX2-4 (S109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534338	NM_033176.2(NKX2-4):c.325A>G (p.Ser109Gly)	NKX2-4 (S109G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340144	NM_033176.2(NKX2-4):c.268G>A (p.Ala90Thr)	NKX2-4 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615735	NM_033176.2(NKX2-4):c.238G>C (p.Ala80Pro)	NKX2-4 (A80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200359	NM_033176.2(NKX2-4):c.218G>A (p.Gly73Asp)	NKX2-4 (G73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283247	NM_033176.2(NKX2-4):c.205C>T (p.His69Tyr)	NKX2-4 (H69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348565	NM_033176.2(NKX2-4):c.125T>C (p.Leu42Pro)	NKX2-4 (L42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551122	NM_033176.2(NKX2-4):c.103C>T (p.Pro35Ser)	NKX2-4 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200360	NM_033176.2(NKX2-4):c.23C>G (p.Thr8Arg)	NKX2-4 (T8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 29