ZFYVE27[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 877229	NM_001385875.1(ZFYVE27):c.-1-10A>G	ZFYVE27	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 301827	NM_001385875.1(ZFYVE27):c.-1G>A	ZFYVE27	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 33 +1 more	GBenign
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 301828	NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu)	ZFYVE27 (P11L)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +1 more	GBenign
Select item 877230	NM_001385875.1(ZFYVE27):c.37C>G (p.Leu13Val)	ZFYVE27 (L13V)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 33	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 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 220394	NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val)	ZFYVE27 (A21V)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 301829	NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala)	ZFYVE27 (P27A)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 33 +1 more	GBenign
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 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 238205	NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=)	ZFYVE27	Single nucleotide variant (synonymous variant +3 more)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 851871	NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys)	ZFYVE27 (Y50C)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +2 more	GUncertain significance
Select item 583410	NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser)	ZFYVE27 (P53S)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 878267	NM_001385875.1(ZFYVE27):c.197+8C>T	ZFYVE27	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 33	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 878268	NM_001385875.1(ZFYVE27):c.219C>G (p.Ser73=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 33	GUncertain significance
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 695222	NM_001385875.1(ZFYVE27):c.238C>T (p.Leu80Phe)	ZFYVE27 (L80F +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GBenign
Select item 458217	NM_001385875.1(ZFYVE27):c.242A>G (p.Asn81Ser)	ZFYVE27 (N81S +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 130785	NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile)	ZFYVE27 (V82I +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +1 more	GBenign
Select item 446047	NM_001385875.1(ZFYVE27):c.263_266del (p.Asn88fs)	ZFYVE27 (N88fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1586409	NM_001385875.1(ZFYVE27):c.269-16G>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
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 1990783	NM_001385875.1(ZFYVE27):c.290C>T (p.Ala97Val)	ZFYVE27 (A110V +4 more)	Single nucleotide variant (missense variant +3 more)	Spastic paraplegia +1 more	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 2150490	NM_001385875.1(ZFYVE27):c.315G>C (p.Leu105=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
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 2158432	NM_001385875.1(ZFYVE27):c.341G>A (p.Arg114Gln)	ZFYVE27 (R46Q +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Spastic paraplegia	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 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 130786	NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia +2 more	GBenign
Select item 301830	NM_001385875.1(ZFYVE27):c.386G>A (p.Ser129Asn)	ZFYVE27 (S129N +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 130787	NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val)	ZFYVE27 (G138V +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +3 more	GBenign
Select item 560372	NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys)	ZFYVE27 (R139C +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
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 301831	NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys)	ZFYVE27 (R142C +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33 +1 more	GBenign/Likely benign
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 567893	NM_001385875.1(ZFYVE27):c.436G>A (p.Val146Met)	ZFYVE27 (V146M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1241835	NM_001385875.1(ZFYVE27):c.455+53A>G	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 1267643	NM_001385875.1(ZFYVE27):c.455+257TTCT[4]	ZFYVE27	Microsatellite (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 1295642	NM_001385875.1(ZFYVE27):c.456-157T>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867910	NM_001385875.1(ZFYVE27):c.456-18A>C	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 301832	NM_001385875.1(ZFYVE27):c.456-12C>T	ZFYVE27	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 33 +1 more	GBenign
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 301833	NM_001385875.1(ZFYVE27):c.508G>A (p.Ala170Thr)	ZFYVE27 (A170T +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33 +1 more	GBenign/Likely benign
Select item 301834	NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia +1 more	GBenign
Select item 301835	NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 33 +1 more	GBenign/Likely benign
Select item 961632	NM_001385875.1(ZFYVE27):c.538G>A (p.Val180Ile)	ZFYVE27 (V148I +7 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
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 +1 more	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 880085	NM_001385875.1(ZFYVE27):c.551+14C>T	ZFYVE27	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 33	GBenign
Select item 1246732	NM_001385875.1(ZFYVE27):c.551+21C>T	ZFYVE27	Single nucleotide variant (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 1271592	NM_001385875.1(ZFYVE27):c.551+287C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1617917	NM_001385875.1(ZFYVE27):c.552-13C>A	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 570689	NM_001385875.1(ZFYVE27):c.557A>G (p.Tyr186Cys)	ZFYVE27 (Y186C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1289	NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	ZFYVE27 (G191V +9 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
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 2866910	NM_001385875.1(ZFYVE27):c.661del (p.Arg221fs)	ZFYVE27 (R135fs +9 more)	Deletion (frameshift variant +2 more)	Spastic paraplegia	GUncertain significance
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 1237014	NM_001385875.1(ZFYVE27):c.664+114T>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 1261579	NM_001385875.1(ZFYVE27):c.665-20G>T	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign
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 1582493	NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2907188	NM_001385875.1(ZFYVE27):c.720G>A (p.Glu240=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
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 656867	NM_001385875.1(ZFYVE27):c.727T>C (p.Phe243Leu)	ZFYVE27 (F145L +10 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	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 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 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 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 943179	NM_001385875.1(ZFYVE27):c.764A>G (p.Asp255Gly)	ZFYVE27 (D255G +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 301836	NM_001385875.1(ZFYVE27):c.797C>T (p.Pro266Leu)	ZFYVE27 (P266L +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 33	GUncertain significance
Select item 212641	NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met)	ZFYVE27 (T267M +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 655994	NM_001385875.1(ZFYVE27):c.804+1G>C	ZFYVE27	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GUncertain significance
Select item 1222557	NM_001385875.1(ZFYVE27):c.804+57T>C	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 1236028	NM_001385875.1(ZFYVE27):c.805-186C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721848	NM_001385875.1(ZFYVE27):c.805-27C>T	ZFYVE27	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 243003	NM_001002261.3(ZFYVE27):c.805-2A>G	ZFYVE27	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 880086	NM_001385875.1(ZFYVE27):c.805-5C>T	ZFYVE27 (S272F +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 33 +1 more	GConflicting classifications of pathogenicity
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 863119	NM_001385875.1(ZFYVE27):c.816G>A (p.Pro272=)	ZFYVE27	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
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 301837	NM_001385875.1(ZFYVE27):c.876+15C>T	ZFYVE27	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 33 +1 more	GBenign
Select item 1236715	NM_001385875.1(ZFYVE27):c.876+210C>T	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295647	NM_001385875.1(ZFYVE27):c.877-142T>C	ZFYVE27	Single nucleotide variant (intron variant)	not provided	GBenign
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 2862605	NM_001385875.1(ZFYVE27):c.894G>A (p.Val298=)	ZFYVE27	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 427085	NM_001385875.1(ZFYVE27):c.897+1G>A	ZFYVE27	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic

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