ClinVar for Gene (Select 84779) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298249	NM_032693.3(NAA11):c.370A>G (p.Asn124Asp)	NAA11 (N124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298248	NM_032693.3(NAA11):c.596C>T (p.Thr199Ile)	NAA11 (T199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298247	NM_032693.3(NAA11):c.36G>A (p.Met12Ile)	NAA11 (M12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298246	NM_032693.3(NAA11):c.340A>C (p.Ser114Arg)	NAA11 (S114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171184	NM_032693.3(NAA11):c.607G>A (p.Gly203Ser)	NAA11 (G203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171178	NM_032693.3(NAA11):c.556T>A (p.Ser186Thr)	NAA11 (S186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171161	NM_032693.3(NAA11):c.289G>A (p.Ala97Thr)	NAA11 (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062791	GRCh37/hg19 4q21.21(chr4:79086702-80588739)x1	ANXA3, BMP2K +4 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 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2597256	NM_032693.3(NAA11):c.664T>C (p.Ser222Pro)	NAA11 (S222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2549572	NM_032693.3(NAA11):c.104G>T (p.Gly35Val)	NAA11 (G35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535898	NM_032693.3(NAA11):c.328C>T (p.His110Tyr)	NAA11 (H110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529274	NM_032693.3(NAA11):c.449A>G (p.Asp150Gly)	NAA11 (D150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484490	NM_032693.3(NAA11):c.460A>G (p.Met154Val)	NAA11 (M154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476885	NM_032693.3(NAA11):c.236G>A (p.Arg79His)	NAA11 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407941	NM_032693.3(NAA11):c.570G>T (p.Glu190Asp)	NAA11 (E190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406617	NM_032693.3(NAA11):c.109T>G (p.Ser37Ala)	NAA11 (S37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398898	NM_032693.3(NAA11):c.374C>A (p.Thr125Asn)	NAA11 (T125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314341	NM_032693.3(NAA11):c.557C>A (p.Ser186Tyr)	NAA11 (S186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306167	NM_032693.3(NAA11):c.245G>A (p.Arg82Gln)	NAA11 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287186	NM_032693.3(NAA11):c.418G>A (p.Asp140Asn)	NAA11 (D140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260469	NM_032693.3(NAA11):c.250C>T (p.Leu84Phe)	NAA11 (L84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	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 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	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 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 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 562935	GRCh37/hg19 4q21.21(chr4:79256988-81081299)x1	BMP2K, ANXA3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 442547	GRCh37/hg19 4q21.21(chr4:80212923-80518968)x1	GK2, NAA11	Copy number loss	See cases	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 221805	GRCh37/hg19 4q21.21(chr4:80179372-80566060)x3	GK2, NAA11	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 156922	NM_033214.2(GK2):c.-269359_*167228dup	GK2, LINC00989 +2 more	Duplication	Normal pregnancy	Gnot provided
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 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 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 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: 44