"Ambry Genetics"[submitter] AND "NOA1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200896	NM_032313.4(NOA1):c.2062A>G (p.Asn688Asp)	NOA1 (N688D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568727	NM_032313.4(NOA1):c.2057T>C (p.Met686Thr)	NOA1 (M686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491774	NM_032313.4(NOA1):c.2030A>G (p.Tyr677Cys)	NOA1 (Y677C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200894	NM_032313.4(NOA1):c.1994A>T (p.Asn665Ile)	NOA1 (N665I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491143	NM_032313.4(NOA1):c.1963G>A (p.Val655Ile)	NOA1 (V655I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245341	NM_032313.4(NOA1):c.1947A>T (p.Glu649Asp)	NOA1 (E649D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300196	NM_032313.4(NOA1):c.1937A>G (p.Tyr646Cys)	NOA1 (Y646C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397034	NM_032313.4(NOA1):c.1868T>A (p.Ile623Asn)	NOA1 (I623N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332263	NM_032313.4(NOA1):c.1861G>C (p.Ala621Pro)	NOA1 (A621P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300193	NM_032313.4(NOA1):c.1805C>T (p.Pro602Leu)	NOA1 (P602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411809	NM_032313.4(NOA1):c.1790T>C (p.Met597Thr)	NOA1 (M597T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254278	NM_032313.4(NOA1):c.1726G>A (p.Ala576Thr)	NOA1 (A576T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569290	NM_032313.4(NOA1):c.1675G>A (p.Val559Met)	NOA1 (V559M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538486	NM_032313.4(NOA1):c.1562C>T (p.Thr521Ile)	NOA1 (T521I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223850	NM_032313.4(NOA1):c.1456C>G (p.Gln486Glu)	NOA1 (Q486E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300198	NM_032313.4(NOA1):c.1371T>G (p.Phe457Leu)	NOA1 (F457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200892	NM_032313.4(NOA1):c.1365T>A (p.Phe455Leu)	NOA1 (F455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378905	NM_032313.4(NOA1):c.1306G>A (p.Val436Ile)	NOA1 (V436I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510072	NM_032313.4(NOA1):c.1181A>G (p.Asn394Ser)	NOA1 (N394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264266	NM_032313.4(NOA1):c.1108G>A (p.Glu370Lys)	NOA1 (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200891	NM_032313.4(NOA1):c.1085A>C (p.Asp362Ala)	NOA1 (D362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200908	NM_032313.4(NOA1):c.946A>G (p.Ile316Val)	NOA1 (I316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200907	NM_032313.4(NOA1):c.889G>A (p.Gly297Arg)	NOA1 (G297R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343595	NM_032313.4(NOA1):c.889G>C (p.Gly297Arg)	NOA1 (G297R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315218	NM_032313.4(NOA1):c.878A>T (p.Glu293Val)	NOA1 (E293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200906	NM_032313.4(NOA1):c.857C>T (p.Pro286Leu)	NOA1 (P286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200905	NM_032313.4(NOA1):c.823G>C (p.Ala275Pro)	NOA1 (A275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600917	NM_032313.4(NOA1):c.809A>G (p.Glu270Gly)	NOA1 (E270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372051	NM_032313.4(NOA1):c.775G>C (p.Gly259Arg)	NOA1 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200904	NM_032313.4(NOA1):c.694C>T (p.Pro232Ser)	LOC129992637, NOA1 (P232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295072	NM_032313.4(NOA1):c.676C>G (p.Leu226Val)	NOA1 (L226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200903	NM_032313.4(NOA1):c.637G>C (p.Gly213Arg)	NOA1 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200901	NM_032313.4(NOA1):c.605T>C (p.Leu202Pro)	NOA1 (L202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300200	NM_032313.4(NOA1):c.599A>G (p.Gln200Arg)	NOA1 (Q200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209569	NM_032313.4(NOA1):c.585G>T (p.Gln195His)	NOA1 (Q195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200900	NM_032313.4(NOA1):c.577C>T (p.Arg193Cys)	NOA1 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532563	NM_032313.4(NOA1):c.542G>C (p.Arg181Pro)	NOA1 (R181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300194	NM_032313.4(NOA1):c.537C>G (p.Cys179Trp)	NOA1 (C179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200899	NM_032313.4(NOA1):c.532G>C (p.Val178Leu)	NOA1 (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200898	NM_032313.4(NOA1):c.530C>G (p.Thr177Ser)	NOA1 (T177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615198	NM_032313.4(NOA1):c.515G>A (p.Gly172Asp)	NOA1 (G172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336539	NM_032313.4(NOA1):c.456C>A (p.Asp152Glu)	LOC129992638, NOA1 (D152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300201	NM_032313.4(NOA1):c.410G>T (p.Ser137Ile)	LOC129992638, NOA1 (S137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200897	NM_032313.4(NOA1):c.404C>G (p.Pro135Arg)	NOA1 (P135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300199	NM_032313.4(NOA1):c.379G>C (p.Val127Leu)	NOA1 (V127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277466	NM_032313.4(NOA1):c.370C>T (p.His124Tyr)	NOA1 (H124Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335643	NM_032313.4(NOA1):c.341A>C (p.Gln114Pro)	NOA1 (Q114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300197	NM_032313.4(NOA1):c.226G>A (p.Glu76Lys)	NOA1 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240062	NM_032313.4(NOA1):c.224C>G (p.Pro75Arg)	NOA1 (P75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200895	NM_032313.4(NOA1):c.204G>T (p.Met68Ile)	NOA1 (M68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253493	NM_032313.4(NOA1):c.101G>A (p.Arg34Lys)	NOA1 (R34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592662	NM_032313.4(NOA1):c.94C>G (p.Leu32Val)	NOA1 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264267	NM_032313.4(NOA1):c.14G>C (p.Arg5Pro)	NOA1 (R5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 53