ClinVar for Gene (Select 27163) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171921	NM_014435.4(NAAA):c.898C>T (p.Arg300Trp)	NAAA (R300W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171912	NM_014435.4(NAAA):c.871T>G (p.Trp291Gly)	NAAA (W291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171879	NM_014435.4(NAAA):c.761C>T (p.Ser254Phe)	NAAA (S254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2654827	NM_014435.4(NAAA):c.114G>C (p.Val38=)	LOC129992686, NAAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600949	NM_014435.4(NAAA):c.721C>T (p.Pro241Ser)	NAAA (P241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599833	NM_014435.4(NAAA):c.761C>G (p.Ser254Cys)	NAAA (S254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562304	NM_014435.4(NAAA):c.976T>C (p.Ser326Pro)	NAAA (S326P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530074	NM_014435.4(NAAA):c.1039G>A (p.Asp347Asn)	NAAA (D347N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523744	NM_014435.4(NAAA):c.926A>G (p.Asn309Ser)	NAAA (N309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517244	NM_014435.4(NAAA):c.803C>T (p.Pro268Leu)	NAAA (P268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495453	NM_014435.4(NAAA):c.172G>A (p.Asp58Asn)	LOC129992686, NAAA (D58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475523	NM_014435.4(NAAA):c.17G>C (p.Arg6Pro)	LOC129992686, NAAA (R6P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456677	NM_014435.4(NAAA):c.735T>A (p.Asp245Glu)	NAAA (D245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454616	NM_014435.4(NAAA):c.766C>T (p.Arg256Trp)	NAAA (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364356	NM_014435.4(NAAA):c.292G>A (p.Glu98Lys)	NAAA (E98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336877	NM_014435.4(NAAA):c.486A>T (p.Leu162Phe)	NAAA (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336834	NM_014435.4(NAAA):c.217C>G (p.Pro73Ala)	NAAA (P73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323376	NM_014435.4(NAAA):c.825T>A (p.Asp275Glu)	NAAA (D275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304340	NM_014435.4(NAAA):c.812T>A (p.Ile271Asn)	NAAA (I271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287004	NM_014435.4(NAAA):c.595G>A (p.Gly199Ser)	NAAA (G199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283582	NM_014435.4(NAAA):c.281C>A (p.Pro94His)	NAAA (P94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242083	NM_014435.4(NAAA):c.23C>T (p.Ala8Val)	LOC129992686, NAAA (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206967	NM_014435.4(NAAA):c.532G>A (p.Val178Ile)	NAAA (V178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980097	GRCh37/hg19 4q21.1(chr4:76714825-76978984)x3	ART3, USO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 785097	NM_014435.4(NAAA):c.667-7C>T	NAAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785096	NM_014435.4(NAAA):c.786G>A (p.Thr262=)	NAAA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749140	NM_014435.4(NAAA):c.663C>T (p.Arg221=)	NAAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727829	NM_014435.4(NAAA):c.221A>G (p.Lys74Arg)	NAAA (K74R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717150	NM_014435.4(NAAA):c.240C>T (p.Ile80=)	NAAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562934	GRCh37/hg19 4q21.1(chr4:76770579-76998151)x3	ART3, CXCL9 +5 more	Copy number gain	not provided	GLikely benign
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56