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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2612496	NM_023018.5(NADK):c.1304A>G (p.His435Arg)	NADK (H580R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521759	NM_023018.5(NADK):c.1285G>A (p.Val429Ile)	NADK (V429I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273100	NM_023018.5(NADK):c.1268A>G (p.Gln423Arg)	NADK (Q336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173102	NM_023018.5(NADK):c.1231C>T (p.Arg411Trp)	NADK (R324W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546776	NM_023018.5(NADK):c.1220C>T (p.Ser407Phe)	NADK (S552F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382937	NM_023018.5(NADK):c.1015A>C (p.Asn339His)	NADK (N307H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377149	NM_023018.5(NADK):c.1003A>G (p.Met335Val)	NADK (M248V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402886	NM_023018.5(NADK):c.880T>C (p.Ser294Pro)	NADK (S262P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173085	NM_023018.5(NADK):c.874C>T (p.Pro292Ser)	NADK (P260S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615196	NM_023018.5(NADK):c.749G>A (p.Gly250Glu)	NADK (G218E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173151	NM_023018.5(NADK):c.494G>A (p.Arg165Gln)	NADK (R165Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284660	NM_023018.5(NADK):c.394-12C>T	NADK (L273F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298362	NM_023018.5(NADK):c.394-35C>T	NADK (A265V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173147	NM_023018.5(NADK):c.394-48A>T	NADK (R261W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595213	NM_023018.5(NADK):c.393+61C>T	NADK (H256Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356976	NM_023018.5(NADK):c.393+60C>G	NADK (I255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356514	NM_023018.5(NADK):c.393+47G>A	NADK (G251E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298064	NM_023018.5(NADK):c.393+38A>T	NADK (H248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472525	NM_023018.5(NADK):c.393+7G>A	NADK (G238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173143	NM_023018.5(NADK):c.296C>T (p.Thr99Met)	NADK (T12M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607844	NM_023018.5(NADK):c.264-1794C>T	NADK (T191I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345529	NM_023018.5(NADK):c.264-1858G>A	NADK (A170T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173141	NM_023018.5(NADK):c.264-1860C>G	NADK (A169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173139	NM_023018.5(NADK):c.264-1861G>A	NADK (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350314	NM_023018.5(NADK):c.264-1869T>C	NADK (V166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595135	NM_023018.5(NADK):c.264-1915G>A	NADK (E151K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173133	NM_023018.5(NADK):c.263+2205C>A	NADK (P140Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2357352	NM_023018.5(NADK):c.263+2165G>A	NADK (V127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173124	NM_023018.5(NADK):c.263+2126G>A	NADK (G114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517686	NM_023018.5(NADK):c.191C>G (p.Ser64Cys)	NADK (S64C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173115	NM_023018.5(NADK):c.187C>T (p.Arg63Cys)	NADK (R63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537538	NM_023018.5(NADK):c.109C>A (p.Pro37Thr)	NADK (P37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173149	NM_023018.5(NADK):c.82G>A (p.Gly28Ser)	NADK (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394779	NM_023018.5(NADK):c.51C>A (p.Asp17Glu)	NADK (D17E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621428	NM_023018.5(NADK):c.31A>T (p.Asn11Tyr)	NADK (N11Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173119	NM_023018.5(NADK):c.28A>G (p.Met10Val)	NADK (M10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 36