ClinVar for Gene (Select 129807) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 182

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299355	NM_001167600.3(NEU4):c.811G>A (p.Glu271Lys)	NEU4 (E271K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299354	NM_001167600.3(NEU4):c.259C>G (p.Pro87Ala)	NEU4 (P100A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299353	NM_001167600.3(NEU4):c.382G>T (p.Ala128Ser)	NEU4 (A128S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299352	NM_001167600.3(NEU4):c.88G>A (p.Val30Met)	NEU4 (V30M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299351	NM_001167600.3(NEU4):c.893T>C (p.Val298Ala)	NEU4 (V298A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299350	NM_001167600.3(NEU4):c.619C>T (p.Arg207Cys)	NEU4 (R219C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299349	NM_001167600.3(NEU4):c.50G>A (p.Arg17Lys)	NEU4 (R17K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062657	GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685891	GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3	ATG4B, D2HGDH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652120	NM_001167600.3(NEU4):c.840C>T (p.Ile280=)	NEU4	Single nucleotide variant (synonymous 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 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 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 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 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 2590942	NM_001167600.3(NEU4):c.1409C>T (p.Pro470Leu)	NEU4 (P470L +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 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 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 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 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 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 2512529	NM_001167600.3(NEU4):c.1445G>T (p.Trp482Leu)	NEU4 (W482L +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
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 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
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 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 2381965	NM_001167600.3(NEU4):c.1372C>T (p.Arg458Cys)	NEU4 (R471C +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 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 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 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 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 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 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 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 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 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 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 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 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 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 2260470	NM_001167600.3(NEU4):c.1433G>A (p.Arg478Gln)	NEU4 (R478Q +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 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 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 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 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 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 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1808495	GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1	ATG4B, BOK +8 more	Copy number loss	not provided	GUncertain significance
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1807573	GRCh37/hg19 2q37.3(chr2:242533423-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	AGXT, ANKMY1 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 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 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	ANKMY1, ATG4B +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340707	GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1	AGXT, ANKMY1 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	PASK, RAB17 +53 more	Copy number loss	not provided	GPathogenic
Select item 1340472	GRCh37/hg19 2q37.3(chr2:242580355-242783384)x1	ATG4B, D2HGDH +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340021	GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3	LOC100128563, MAB21L4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980017	GRCh37/hg19 2q37.3(chr2:242471243-242760670)x3	DTYMK, ING5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 929402	GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3	AGXT, ANO7 +19 more	Copy number gain	See cases	GUncertain significance
Select item 929352	GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3	AGXT, ANO7 +19 more	Copy number gain	See cases	GUncertain significance
Select item 929330	GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3	AGXT, ANKMY1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2