ClinVar for Gene (Select 122830) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684727	GRCh37/hg19 14q22.3(chr14:57618531-58064442)x3	AP5M1, CCDC198 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2620976	NM_001011713.3(NAA30):c.485C>A (p.Pro162His)	NAA30 (P162H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602381	NM_001011713.3(NAA30):c.488C>T (p.Ala163Val)	NAA30 (A163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	DAAM1, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2549168	NM_001011713.3(NAA30):c.208C>T (p.Pro70Ser)	NAA30 (P70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534299	NM_001011713.3(NAA30):c.68T>C (p.Val23Ala)	NAA30 (V23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534298	NM_001011713.3(NAA30):c.58C>T (p.Pro20Ser)	NAA30 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508123	NM_001011713.3(NAA30):c.388G>T (p.Ala130Ser)	NAA30 (A130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487813	NM_001011713.3(NAA30):c.290C>T (p.Ala97Val)	NAA30 (A97V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466276	NM_001011713.3(NAA30):c.569C>T (p.Ser190Phe)	NAA30 (S190F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363727	NM_001011713.3(NAA30):c.577G>T (p.Ala193Ser)	NAA30 (A193S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332798	NM_001011713.3(NAA30):c.508G>A (p.Ala170Thr)	NAA30 (A170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299333	NM_001011713.3(NAA30):c.292G>C (p.Ala98Pro)	NAA30 (A98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274617	NM_001011713.3(NAA30):c.129G>C (p.Glu43Asp)	NAA30 (E43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242933	NM_001011713.3(NAA30):c.837C>G (p.Phe279Leu)	NAA30 (F279L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209675	NM_001011713.3(NAA30):c.448G>A (p.Val150Ile)	NAA30 (V150I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 984533	NM_001011713.3(NAA30):c.452C>A (p.Pro151His)	NAA30 (P151H)	Single nucleotide variant (missense variant)	Lethal multiystemic syndrome	GLikely pathogenic
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
Select item 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394770	GRCh37/hg19 14q22.3(chr14:56559797-58063452)x1	AP5M1, CCDC198 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 155334	GRCh38/hg38 14q22.3-23.1(chr14:57121531-58028799)x1	AP5M1, ARMH4 +9 more	Copy number loss	See cases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 32