ClinVar for Gene (Select 118813) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334607	NM_001385875.1(ZFYVE27):c.955G>A (p.Gly319Arg)	ZFYVE27 (G101R +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334606	NM_001385875.1(ZFYVE27):c.427C>T (p.Pro143Ser)	ZFYVE27 (P131S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193417	NM_001385875.1(ZFYVE27):c.97C>T (p.Pro33Ser)	ZFYVE27 (P33S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193416	NM_001385875.1(ZFYVE27):c.484C>T (p.Arg162Cys)	ZFYVE27 (R130C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193415	NM_001385875.1(ZFYVE27):c.1025A>G (p.Tyr342Cys)	ZFYVE27 (Y341C +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068909	NM_001385875.1(ZFYVE27):c.1159A>G (p.Met387Val)	ZFYVE27 (M169V +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063165	GRCh37/hg19 10q24.2(chr10:99490651-99552148)x1	SFRP5, ZFYVE27	Copy number loss	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3027061	NM_001385875.1(ZFYVE27):c.3G>T (p.Met1Ile)	ZFYVE27 (M1I)	Single nucleotide variant (missense variant +4 more)	not provided	GUncertain significance
Select item 2984382	NM_001385875.1(ZFYVE27):c.18T>C (p.Arg6=)	ZFYVE27	Single nucleotide variant (synonymous variant +3 more)	Spastic paraplegia	GLikely benign
Select item 2954789	NM_001385875.1(ZFYVE27):c.897+12C>G	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2911031	NM_001385875.1(ZFYVE27):c.1089+11G>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2907188	NM_001385875.1(ZFYVE27):c.720G>A (p.Glu240=)	ZFYVE27	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2885854	NM_001385875.1(ZFYVE27):c.416G>C (p.Arg139Pro)	ZFYVE27 (R127P +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2884500	NM_001385875.1(ZFYVE27):c.1061C>T (p.Ser354Leu)	ZFYVE27 (S273L +21 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2867910	NM_001385875.1(ZFYVE27):c.456-18A>C	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2866910	NM_001385875.1(ZFYVE27):c.661del (p.Arg221fs)	ZFYVE27 (R135fs +9 more)	Deletion (frameshift variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2862605	NM_001385875.1(ZFYVE27):c.894G>A (p.Val298=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2796249	NM_001385875.1(ZFYVE27):c.49G>A (p.Val17Met)	ZFYVE27 (V17M)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2747840	NM_001385875.1(ZFYVE27):c.198-1G>A	ZFYVE27	Single nucleotide variant (splice acceptor variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2722081	NM_001385875.1(ZFYVE27):c.1024T>C (p.Tyr342His)	ZFYVE27 (Y254H +21 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2721848	NM_001385875.1(ZFYVE27):c.805-27C>T	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2720060	NM_001385875.1(ZFYVE27):c.187T>C (p.Tyr63His)	ZFYVE27 (Y63H)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia	GUncertain significance
Select item 2717267	NM_001385875.1(ZFYVE27):c.1019A>G (p.Lys340Arg)	ZFYVE27 (K122R +21 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2714567	NM_001385875.1(ZFYVE27):c.736C>T (p.Pro246Ser)	ZFYVE27 (P160S +10 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640740	NM_001385875.1(ZFYVE27):c.269-2A>G	ZFYVE27	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2637540	NM_001385875.1(ZFYVE27):c.1089+10T>A	ZFYVE27	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2620106	NM_001385875.1(ZFYVE27):c.988A>C (p.Lys330Gln)	ZFYVE27 (K212Q +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593323	NM_001385875.1(ZFYVE27):c.430G>A (p.Glu144Lys)	ZFYVE27 (E132K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2506223	NM_001385875.1(ZFYVE27):c.101C>T (p.Ala34Val)	ZFYVE27 (A34V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2438651	NM_001385875.1(ZFYVE27):c.310G>A (p.Ala104Thr)	ZFYVE27 (A104T +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 2438650	NM_001385875.1(ZFYVE27):c.815C>T (p.Pro272Leu)	ZFYVE27 (P154L +15 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2411721	NM_001385875.1(ZFYVE27):c.911G>A (p.Gly304Asp)	ZFYVE27 (G186D +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410597	NM_001385875.1(ZFYVE27):c.722A>G (p.His241Arg)	ZFYVE27 (H241R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399364	NM_001385875.1(ZFYVE27):c.1142A>G (p.Lys381Arg)	ZFYVE27 (K256R +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339703	NM_001385875.1(ZFYVE27):c.923C>T (p.Pro308Leu)	ZFYVE27 (P190L +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329296	NM_001385875.1(ZFYVE27):c.1012C>T (p.Leu338Phe)	ZFYVE27 (L120F +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312198	NM_001385875.1(ZFYVE27):c.755G>C (p.Gly252Ala)	ZFYVE27 (G134A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296744	NM_001385875.1(ZFYVE27):c.1160T>A (p.Met387Lys)	ZFYVE27 (M169K +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296657	NM_001385875.1(ZFYVE27):c.878A>G (p.Glu293Gly)	ZFYVE27 (E293G +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285798	NM_001385875.1(ZFYVE27):c.755G>T (p.Gly252Val)	ZFYVE27 (G184V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270721	NM_001385875.1(ZFYVE27):c.851A>G (p.Asp284Gly)	ZFYVE27 (D191G +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257737	NM_001385875.1(ZFYVE27):c.735T>A (p.Ser245Arg)	ZFYVE27 (S177R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2158733	NM_001385875.1(ZFYVE27):c.953A>G (p.Asn318Ser)	ZFYVE27 (N218S +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2158432	NM_001385875.1(ZFYVE27):c.341G>A (p.Arg114Gln)	ZFYVE27 (R46Q +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2157804	NM_001385875.1(ZFYVE27):c.1211C>T (p.Ser404Leu)	ZFYVE27 (S186L +21 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2150490	NM_001385875.1(ZFYVE27):c.315G>C (p.Leu105=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2137808	NM_001385875.1(ZFYVE27):c.1042+11G>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2082254	NM_001385875.1(ZFYVE27):c.662G>A (p.Arg221Gln)	ZFYVE27 (R123Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2079839	NM_001385875.1(ZFYVE27):c.360C>G (p.Ser120=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2027648	NM_001385875.1(ZFYVE27):c.234G>C (p.Leu78=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 1990783	NM_001385875.1(ZFYVE27):c.290C>T (p.Ala97Val)	ZFYVE27 (A110V +4 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1986868	NM_001385875.1(ZFYVE27):c.897+19G>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 1957985	NM_001385875.1(ZFYVE27):c.1171+9T>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1809629	NM_001385875.1(ZFYVE27):c.551+1G>A	ZFYVE27	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1720393	NM_001385875.1(ZFYVE27):c.367A>T (p.Met123Leu)	ZFYVE27 (M111L +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 1709552	NM_001385875.1(ZFYVE27):c.1078C>G (p.Leu360Val)	ZFYVE27 (L142V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 1646224	NM_001385875.1(ZFYVE27):c.340C>T (p.Arg114Trp)	ZFYVE27 (R102W +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GLikely benign
Select item 1622092	NM_001385875.1(ZFYVE27):c.1172-20A>G	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1617917	NM_001385875.1(ZFYVE27):c.552-13C>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1590208	NM_001385875.1(ZFYVE27):c.1038C>T (p.Asn346=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1586409	NM_001385875.1(ZFYVE27):c.269-16G>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 1582493	NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1490876	NM_001385875.1(ZFYVE27):c.680G>A (p.Arg227Lys)	ZFYVE27 (R116K +10 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1448482	NM_001385875.1(ZFYVE27):c.787G>A (p.Ala263Thr)	ZFYVE27 (A184T +10 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1384345	NM_001385875.1(ZFYVE27):c.1022G>A (p.Arg341His)	ZFYVE27 (R123H +21 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1380150	NM_001385875.1(ZFYVE27):c.53T>C (p.Met18Thr)	ZFYVE27 (M18T)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia	GUncertain significance
Select item 1319382	NM_001385875.1(ZFYVE27):c.897+18T>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1295647	NM_001385875.1(ZFYVE27):c.877-142T>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295646	NM_001385875.1(ZFYVE27):c.1172-119G>A	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295643	NM_001385875.1(ZFYVE27):c.804+104A>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295642	NM_001385875.1(ZFYVE27):c.456-157T>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271592	NM_001385875.1(ZFYVE27):c.551+287C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270002	NM_001385875.1(ZFYVE27):c.456-220T>A	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267643	NM_001385875.1(ZFYVE27):c.455+257TTCT[4]	ZFYVE27	Microsatellite (intron variant)	not provided	GBenign
Select item 1267235	NM_001385875.1(ZFYVE27):c.551+236A>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266069	NM_001385875.1(ZFYVE27):c.665-119T>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262634	NM_001385875.1(ZFYVE27):c.455+109C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262503	NM_001385875.1(ZFYVE27):c.1090-44A>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261579	NM_001385875.1(ZFYVE27):c.665-20G>T	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign
Select item 1251862	NM_001385875.1(ZFYVE27):c.1172-183C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246732	NM_001385875.1(ZFYVE27):c.551+21C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244710	NM_001385875.1(ZFYVE27):c.1171+136C>A	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241835	NM_001385875.1(ZFYVE27):c.455+53A>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237014	NM_001385875.1(ZFYVE27):c.664+114T>G	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236715	NM_001385875.1(ZFYVE27):c.876+210C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236028	NM_001385875.1(ZFYVE27):c.805-186C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229074	NM_001385875.1(ZFYVE27):c.1043-67G>A	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227471	NM_001385875.1(ZFYVE27):c.1172-92G>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222557	NM_001385875.1(ZFYVE27):c.804+57T>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1137941	NM_001385875.1(ZFYVE27):c.1074A>G (p.Ser358=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1135062	NM_001385875.1(ZFYVE27):c.909G>A (p.Glu303=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1122600	NM_001385875.1(ZFYVE27):c.639T>C (p.Phe213=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 1081471	NM_001385875.1(ZFYVE27):c.541G>A (p.Val181Met)	ZFYVE27 (V102M +7 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GLikely benign

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