7626[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3298321	NM_005966.4(NAB1):c.310C>T (p.Pro104Ser)	NAB1 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616259	NM_005966.4(NAB1):c.316T>C (p.Trp106Arg)	NAB1 (W106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527355	NM_005966.4(NAB1):c.395C>T (p.Ala132Val)	NAB1 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467247	NM_005966.4(NAB1):c.413G>C (p.Ser138Thr)	NAB1 (S138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272015	NM_005966.4(NAB1):c.464T>C (p.Val155Ala)	NAB1 (V155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172404	NM_005966.4(NAB1):c.544G>A (p.Ala182Thr)	NAB1 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298323	NM_005966.4(NAB1):c.546G>A (p.Ala182=)	NAB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2326249	NM_005966.4(NAB1):c.611A>G (p.Glu204Gly)	NAB1 (E204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172413	NM_005966.4(NAB1):c.614G>A (p.Arg205Gln)	NAB1 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276266	NM_005966.4(NAB1):c.622C>T (p.Pro208Ser)	NAB1 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240942	NM_005966.4(NAB1):c.642C>A (p.Asp214Glu)	NAB1 (D214E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172424	NM_005966.4(NAB1):c.703A>G (p.Ile235Val)	NAB1 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298327	NM_005966.4(NAB1):c.710A>C (p.Glu237Ala)	NAB1 (E237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298326	NM_005966.4(NAB1):c.842C>T (p.Ala281Val)	NAB1 (A281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342925	NM_005966.4(NAB1):c.853G>A (p.Val285Met)	NAB1 (V285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524183	NM_005966.4(NAB1):c.874A>T (p.Thr292Ser)	NAB1 (T292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591704	NM_005966.4(NAB1):c.961T>C (p.Cys321Arg)	NAB1 (C321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172344	NM_005966.4(NAB1):c.1000G>A (p.Val334Met)	NAB1 (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315216	NM_005966.4(NAB1):c.1042C>G (p.Leu348Val)	NAB1 (L348V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248708	NM_005966.4(NAB1):c.1063A>G (p.Lys355Glu)	NAB1 (K355E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151083	GRCh38/hg38 2q32.2(chr2:190683978-190768165)x3	LOC126806448, LOC129935264 +2 more	Copy number gain	See cases	GUncertain significance
Select item 3172352	NM_005966.4(NAB1):c.1142A>G (p.Gln381Arg)	NAB1 (Q351R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284786	NM_005966.4(NAB1):c.1158A>T (p.Arg386Ser)	NAB1 (R356S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255907	NM_005966.4(NAB1):c.1165C>G (p.His389Asp)	NAB1 (H388D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172360	NM_005966.4(NAB1):c.1171G>A (p.Glu391Lys)	NAB1 (E391K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298324	NM_005966.4(NAB1):c.1177A>G (p.Arg393Gly)	NAB1 (R363G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298325	NM_005966.4(NAB1):c.1199G>C (p.Arg400Thr)	NAB1 (R399T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172365	NM_005966.4(NAB1):c.1210G>A (p.Glu404Lys)	NAB1 (E404K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376373	NM_005966.4(NAB1):c.1237T>G (p.Ser413Ala)	NAB1 (S413A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172376	NM_005966.4(NAB1):c.1241A>G (p.Asp414Gly)	NAB1 (D413G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318813	NM_005966.4(NAB1):c.1252G>A (p.Gly418Arg)	NAB1 (G388R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172385	NM_005966.4(NAB1):c.1267C>A (p.Pro423Thr)	NAB1 (P422T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477201	NM_005966.4(NAB1):c.1342C>A (p.Leu448Ile)	NAB1 (L447I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316330	NM_005966.4(NAB1):c.1431A>C (p.Lys477Asn)	NAB1 (K476N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562502	GRCh37/hg19 2q32.2(chr2:191541843-191620797)x1	NAB1	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 63