NAA60[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2537274	NM_001083601.3(NAA60):c.14T>C (p.Val5Ala)	NAA60 (V5A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379675	NM_001083601.3(NAA60):c.32G>A (p.Ser11Asn)	NAA60 (S11N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076209	NM_001083601.3(NAA60):c.50T>G (p.Leu17Arg)	NAA60 (L17R)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 9, autosomal recessive	GPathogenic
Select item 2283857	NM_001083601.3(NAA60):c.109G>A (p.Glu37Lys)	NAA60 (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076208	NM_001083601.3(NAA60):c.130C>T (p.Arg44Cys)	NAA60 (R44C +1 more)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 9, autosomal recessive	GPathogenic
Select item 2358009	NM_001083601.3(NAA60):c.181G>A (p.Gly61Ser)	NAA60 (G68S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 871515	NM_001083601.3(NAA60):c.267C>T (p.Phe89=)	NAA60	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3076205	NM_001083601.3(NAA60):c.323_329del (p.Arg108fs)	NAA60 (R43fs +2 more)	Deletion (frameshift variant +1 more)	Basal ganglia calcification, idiopathic, 9, autosomal recessive	GPathogenic
Select item 3076206	NM_001083601.3(NAA60):c.338-1G>C	NAA60	Single nucleotide variant (splice acceptor variant +1 more)	Basal ganglia calcification, idiopathic, 9, autosomal recessive	GPathogenic
Select item 3171740	NM_001083601.3(NAA60):c.352G>A (p.Glu118Lys)	NAA60 (E118K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261832	NM_001083601.3(NAA60):c.352G>C (p.Glu118Gln)	NAA60 (E118Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171752	NM_001083601.3(NAA60):c.382G>A (p.Ala128Thr)	NAA60 (A128T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076207	NM_001083601.3(NAA60):c.391C>T (p.His131Tyr)	NAA60 (H131Y +2 more)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 9, autosomal recessive	GPathogenic
Select item 3076210	NM_001083601.3(NAA60):c.428A>C (p.Asn143Thr)	NAA60 (N143T +2 more)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 9, autosomal recessive	GPathogenic
Select item 2524358	NM_001083601.3(NAA60):c.515A>G (p.Lys172Arg)	NAA60 (K107R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171755	NM_001083601.3(NAA60):c.527C>G (p.Thr176Ser)	NAA60 (T111S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 807967	NM_001083601.3(NAA60):c.567G>A (p.Thr189=)	NAA60	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3298283	NM_001083601.3(NAA60):c.580A>C (p.Ile194Leu)	NAA60 (H118P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219954	NM_001083601.3(NAA60):c.637G>A (p.Val213Ile)	NAA60 (S137N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 780018	NM_001083601.3(NAA60):c.654C>G (p.His218Gln)	NAA60 (H110Q +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3171761	NM_001083601.3(NAA60):c.655A>G (p.Ser219Gly)	NAA60 (Q143R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 688768	GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3	ADCY9, C16orf90 +10 more	Copy number gain	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564260	GRCh37/hg19 16p13.3(chr16:3519135-3651271)x1	CLUAP1, SLX4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 67