NEU2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 2599890	NM_005383.2(NEU2):c.62G>A (p.Arg21Lys)	NEU2 (R21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349313	NM_005383.2(NEU2):c.121C>T (p.Arg41Trp)	NEU2 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194379	NM_005383.2(NEU2):c.167G>A (p.Arg56Lys)	NEU2 (R56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194383	NM_005383.2(NEU2):c.170G>A (p.Gly57Glu)	NEU2 (G57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194386	NM_005383.2(NEU2):c.181G>A (p.Ala61Thr)	NEU2 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194392	NM_005383.2(NEU2):c.284C>T (p.Thr95Met)	NEU2 (T95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550067	NM_005383.2(NEU2):c.449C>T (p.Ala150Val)	NEU2 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194397	NM_005383.2(NEU2):c.505G>A (p.Asp169Asn)	NEU2 (D169N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454747	NM_005383.2(NEU2):c.515G>A (p.Arg172Gln)	NEU2 (R172Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194404	NM_005383.2(NEU2):c.555C>A (p.His185Gln)	NEU2 (H185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296383	NM_005383.2(NEU2):c.698C>A (p.Thr233Asn)	NEU2 (T233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194417	NM_005383.2(NEU2):c.719T>G (p.Leu240Arg)	NEU2 (L240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300266	NM_005383.2(NEU2):c.794T>A (p.Val265Glu)	NEU2 (V265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194425	NM_005383.2(NEU2):c.845C>T (p.Pro282Leu)	NEU2 (P282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194429	NM_005383.2(NEU2):c.848G>T (p.Arg283Leu)	NEU2 (R283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405210	NM_005383.2(NEU2):c.911G>C (p.Arg304Thr)	NEU2 (R304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194438	NM_005383.2(NEU2):c.992G>T (p.Ser331Ile)	NEU2 (S331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335456	NM_005383.2(NEU2):c.1035T>G (p.Asp345Glu)	NEU2 (D345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253241	NM_005383.2(NEU2):c.1078G>A (p.Glu360Lys)	NEU2 (E360K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 more	Copy number loss	Chromosome 2q37 deletion syndrome	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 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1450036	NC_000002.11:g.(?_233164730)_(234250992_?)dup	CHRND, CHRNG +16 more	Duplication	not provided	GUncertain significance
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance
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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 393907	GRCh37/hg19 2q37.1(chr2:233899687-233999652)x1	NEU2	Copy number loss	See cases	GUncertain significance

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Items: 56