NEU4[gene] - ClinVar - NCBI

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	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 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 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 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 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 144757	GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	ATG4B, BOK +44 more	Copy number loss	See cases	GUncertain significance
Select item 144361	GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3	ATG4B, BOK +39 more	Copy number gain	See cases	GUncertain significance
Select item 153126	GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1	ATG4B, BOK +32 more	Copy number loss	See cases	GUncertain significance
Select item 57280	GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1	ATG4B, D2HGDH +29 more	Copy number loss	See cases	GUncertain significance
Select item 144276	GRCh38/hg38 2q37.3(chr2:241770998-241996090)x1	FAM240C, GAL3ST2 +9 more	Copy number loss	See cases	GBenign
Select item 3194694	NM_001167600.3(NEU4):c.14G>A (p.Arg5His)	NEU4 (R17H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615695	NM_001167600.3(NEU4):c.67C>T (p.Arg23Cys)	NEU4 (R35C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374678	NM_001167600.3(NEU4):c.70G>A (p.Val24Met)	NEU4 (V36M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366749	NM_001167600.3(NEU4):c.77C>T (p.Ser26Leu)	NEU4 (S39L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230184	NM_001167600.3(NEU4):c.103A>C (p.Thr35Pro)	NEU4 (T35P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194667	NM_001167600.3(NEU4):c.125A>G (p.Gln42Arg)	NEU4 (Q42R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370009	NM_001167600.3(NEU4):c.217G>A (p.Val73Met)	NEU4 (V73M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352945	NM_001167600.3(NEU4):c.265C>T (p.Pro89Ser)	NEU4 (P102S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552637	NM_001167600.3(NEU4):c.350C>T (p.Thr117Met)	NEU4 (T130M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253938	NM_001167600.3(NEU4):c.368G>A (p.Arg123His)	NEU4 (R136H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540819	NM_001167600.3(NEU4):c.376T>C (p.Cys126Arg)	NEU4 (C126R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224590	NM_001167600.3(NEU4):c.397G>A (p.Gly133Ser)	NEU4 (G133S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194684	NM_001167600.3(NEU4):c.415G>T (p.Ala139Ser)	NEU4 (A152S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210089	NM_001167600.3(NEU4):c.418C>T (p.Arg140Trp)	NEU4 (R152W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207918	NM_001167600.3(NEU4):c.419G>A (p.Arg140Gln)	NEU4 (R152Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652118	NM_001167600.3(NEU4):c.430G>A (p.Glu144Lys)	NEU4 (E144K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652119	NM_001167600.3(NEU4):c.450C>T (p.Ala150=)	NEU4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3194691	NM_001167600.3(NEU4):c.472G>A (p.Ala158Thr)	NEU4 (A170T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566452	NM_001167600.3(NEU4):c.511C>T (p.Arg171Cys)	NEU4 (R184C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298345	NM_001167600.3(NEU4):c.514C>G (p.Leu172Val)	NEU4 (L172V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263148	NM_001167600.3(NEU4):c.526G>A (p.Ala176Thr)	NEU4 (A189T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194707	NM_001167600.3(NEU4):c.551G>A (p.Arg184Gln)	NEU4 (R184Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342027	NM_001167600.3(NEU4):c.575G>A (p.Arg192Gln)	NEU4 (R192Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513888	NM_001167600.3(NEU4):c.580A>G (p.Ser194Gly)	NEU4 (S194G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463035	NM_001167600.3(NEU4):c.628C>T (p.Arg210Cys)	NEU4 (R222C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194716	NM_001167600.3(NEU4):c.637G>A (p.Gly213Ser)	NEU4 (G226S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558314	NM_001167600.3(NEU4):c.656G>A (p.Arg219His)	NEU4 (R232H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194720	NM_001167600.3(NEU4):c.700G>A (p.Gly234Ser)	NEU4 (G246S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194721	NM_001167600.3(NEU4):c.707T>C (p.Phe236Ser)	NEU4 (F248S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194726	NM_001167600.3(NEU4):c.773C>G (p.Thr258Ser)	NEU4 (T271S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603657	NM_001167600.3(NEU4):c.794G>A (p.Arg265His)	NEU4 (R278H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652120	NM_001167600.3(NEU4):c.840C>T (p.Ile280=)	NEU4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3194735	NM_001167600.3(NEU4):c.859G>A (p.Ala287Thr)	NEU4 (A287T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356245	NM_001167600.3(NEU4):c.875G>A (p.Arg292Gln)	NEU4 (R305Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588703	NM_001167600.3(NEU4):c.962C>T (p.Ala321Val)	NEU4 (A321V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194580	NM_001167600.3(NEU4):c.991G>A (p.Gly331Ser)	NEU4 (G344S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368597	NM_001167600.3(NEU4):c.1003A>G (p.Ser335Gly)	NEU4 (S335G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274965	NM_001167600.3(NEU4):c.1046C>T (p.Pro349Leu)	NEU4 (P362L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194601	NM_001167600.3(NEU4):c.1146C>G (p.His382Gln)	NEU4 (H382Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331024	NM_001167600.3(NEU4):c.1157G>A (p.Arg386His)	NEU4 (R386H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367683	NM_001167600.3(NEU4):c.1199C>T (p.Pro400Leu)	NEU4 (P413L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603916	NM_001167600.3(NEU4):c.1208C>T (p.Pro403Leu)	NEU4 (P416L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194614	NM_001167600.3(NEU4):c.1236C>G (p.Ile412Met)	NEU4 (I425M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209707	NM_001167600.3(NEU4):c.1261G>A (p.Asp421Asn)	NEU4 (D421N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410535	NM_001167600.3(NEU4):c.1276G>A (p.Gly426Arg)	NEU4 (G439R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375045	NM_001167600.3(NEU4):c.1279C>T (p.Pro427Ser)	NEU4 (P427S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194629	NM_001167600.3(NEU4):c.1280C>T (p.Pro427Leu)	NEU4 (P440L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194634	NM_001167600.3(NEU4):c.1283C>T (p.Ala428Val)	NEU4 (A428V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194636	NM_001167600.3(NEU4):c.1291G>T (p.Gly431Trp)	NEU4 (G443W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345633	NM_001167600.3(NEU4):c.1318G>C (p.Glu440Gln)	NEU4 (E440Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411791	NM_001167600.3(NEU4):c.1357T>C (p.Cys453Arg)	NEU4 (C453R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510394	NM_001167600.3(NEU4):c.1372C>A (p.Arg458Ser)	NEU4 (R458S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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