ClinVar for Gene (Select 23503) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 2950

<< First< Prev

Page of 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193414	NM_015346.4(ZFYVE26):c.88G>A (p.Glu30Lys)	ZFYVE26 (E30K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193413	NM_015346.4(ZFYVE26):c.809G>T (p.Gly270Val)	ZFYVE26 (G270V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193412	NM_015346.4(ZFYVE26):c.7237T>A (p.Leu2413Met)	ZFYVE26 (L2413M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193411	NM_015346.4(ZFYVE26):c.68G>C (p.Cys23Ser)	ZFYVE26 (C23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193410	NM_015346.4(ZFYVE26):c.6596C>T (p.Pro2199Leu)	ZFYVE26 (P2199L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193409	NM_015346.4(ZFYVE26):c.6455G>A (p.Gly2152Glu)	ZFYVE26 (G2152E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193406	NM_015346.4(ZFYVE26):c.5327C>T (p.Ser1776Phe)	ZFYVE26 (S1776F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193405	NM_015346.4(ZFYVE26):c.4896C>G (p.Asn1632Lys)	ZFYVE26 (N1632K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193404	NM_015346.4(ZFYVE26):c.457G>C (p.Ala153Pro)	ZFYVE26 (A153P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193403	NM_015346.4(ZFYVE26):c.4297A>G (p.Thr1433Ala)	ZFYVE26 (T1433A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193401	NM_015346.4(ZFYVE26):c.3676G>A (p.Val1226Ile)	ZFYVE26 (V1226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193400	NM_015346.4(ZFYVE26):c.3098G>A (p.Ser1033Asn)	ZFYVE26 (S1033N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193399	NM_015346.4(ZFYVE26):c.2447G>T (p.Arg816Ile)	ZFYVE26 (R816I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193398	NM_015346.4(ZFYVE26):c.2144G>C (p.Cys715Ser)	ZFYVE26 (C715S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193397	NM_015346.4(ZFYVE26):c.1714C>A (p.Leu572Met)	ZFYVE26 (L572M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068641	NM_015346.4(ZFYVE26):c.3304+1G>A	ZFYVE26	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 3067974	NM_152443.3(RDH12):c.917T>G (p.Val306Gly)	GPHN, RDH12 +1 more (V306G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3065528	NM_015346.4(ZFYVE26):c.6589-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 3061175	NM_015346.4(ZFYVE26):c.3331C>T (p.Leu1111=)	ZFYVE26	Single nucleotide variant (synonymous variant)	ZFYVE26-related condition	GLikely benign
Select item 3037009	NM_152443.3(RDH12):c.699C>A (p.Val233=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	RDH12-related condition	GLikely benign
Select item 3028282	NM_152443.3(RDH12):c.761_762insA (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Insertion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028281	NM_152443.3(RDH12):c.668T>A (p.Val223Asp)	GPHN, RDH12 +1 more (V223D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3023827	NM_015346.4(ZFYVE26):c.327del (p.Asp110fs)	ZFYVE26 (D110fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 3023000	NM_015346.4(ZFYVE26):c.7342C>T (p.Leu2448=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3022926	NM_015346.4(ZFYVE26):c.2756-18C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3022495	NM_015346.4(ZFYVE26):c.4569+13G>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3021310	NM_015346.4(ZFYVE26):c.4373-17T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3021084	NM_015346.4(ZFYVE26):c.309G>A (p.Glu103=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021069	NM_015346.4(ZFYVE26):c.426G>A (p.Arg142=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021059	NM_015346.4(ZFYVE26):c.4263G>A (p.Leu1421=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3021042	NM_015346.4(ZFYVE26):c.6011+12T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3020958	NM_015346.4(ZFYVE26):c.2316A>G (p.Thr772=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3020618	NM_015346.4(ZFYVE26):c.3140-15A>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3020011	NM_015346.4(ZFYVE26):c.2553+17C>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019866	NM_015346.4(ZFYVE26):c.6589-15C>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3019751	NM_015346.4(ZFYVE26):c.6787-20C>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3018873	NM_015346.4(ZFYVE26):c.2685T>C (p.Gly895=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3018868	NM_015346.4(ZFYVE26):c.5221+11G>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3018782	NM_015346.4(ZFYVE26):c.2248+10G>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3017547	NM_015346.4(ZFYVE26):c.7371+15G>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3017537	NM_015346.4(ZFYVE26):c.5222-10C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3016814	NM_015346.4(ZFYVE26):c.1640-20T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3016561	NM_015346.4(ZFYVE26):c.1152G>A (p.Lys384=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3016102	NM_152443.3(RDH12):c.659-20T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3015997	NM_015346.4(ZFYVE26):c.5654-16G>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3015688	NM_015346.4(ZFYVE26):c.6986+11G>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3014629	NM_015346.4(ZFYVE26):c.567G>A (p.Leu189=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3014275	NM_015346.4(ZFYVE26):c.91C>T (p.Leu31=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3014036	NM_015346.4(ZFYVE26):c.2332+1G>C	ZFYVE26	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 3013752	NM_015346.4(ZFYVE26):c.4675-14G>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3013604	NM_015346.4(ZFYVE26):c.887-19C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3013538	NM_015346.4(ZFYVE26):c.6690C>T (p.Thr2230=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3013482	NM_015346.4(ZFYVE26):c.2554-19A>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3013447	NM_015346.4(ZFYVE26):c.4705C>T (p.Leu1569=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3011855	NM_015346.4(ZFYVE26):c.2475C>T (p.Leu825=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3007907	NM_015346.4(ZFYVE26):c.5526G>T (p.Val1842=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3006448	NM_015346.4(ZFYVE26):c.6796C>A (p.Arg2266=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3005565	NM_015346.4(ZFYVE26):c.4975-16T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3005486	NM_152443.3(RDH12):c.849-16T>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3005079	NM_015346.4(ZFYVE26):c.189G>A (p.Leu63=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3004013	NM_015346.4(ZFYVE26):c.4569+2_4569+6dup	ZFYVE26	Duplication (splice donor variant)	Spastic paraplegia	GLikely benign
Select item 3002874	NM_015346.4(ZFYVE26):c.6525C>T (p.Ala2175=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3001359	NM_015346.4(ZFYVE26):c.2449T>C (p.Leu817=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3001347	NM_015346.4(ZFYVE26):c.1465C>T (p.Leu489=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3000963	NM_015346.4(ZFYVE26):c.7218C>T (p.Tyr2406=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3000121	NM_015346.4(ZFYVE26):c.1542C>T (p.Asn514=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3000081	NM_015346.4(ZFYVE26):c.315T>C (p.Leu105=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2999748	NM_015346.4(ZFYVE26):c.4989G>A (p.Leu1663=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2999275	NM_015346.4(ZFYVE26):c.192G>A (p.Leu64=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2998389	NM_015346.4(ZFYVE26):c.7176C>T (p.Phe2392=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2998215	NM_015346.4(ZFYVE26):c.2333-10A>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2998114	NM_015346.4(ZFYVE26):c.5727A>G (p.Glu1909=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2998028	NM_015346.4(ZFYVE26):c.6986+14C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2997716	NM_015346.4(ZFYVE26):c.1656C>T (p.Phe552=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2996983	NM_152443.3(RDH12):c.848+17C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2996183	NM_015346.4(ZFYVE26):c.5485-18C>T	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2995554	NM_015346.4(ZFYVE26):c.5374C>T (p.Gln1792Ter)	ZFYVE26 (Q1792*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2995183	NM_015346.4(ZFYVE26):c.6072A>G (p.Pro2024=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2995053	NM_015346.4(ZFYVE26):c.6589G>T (p.Glu2197Ter)	ZFYVE26 (E2197*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2994846	NM_015346.4(ZFYVE26):c.6370-20C>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2992807	NM_015346.4(ZFYVE26):c.4977T>C (p.Ile1659=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2991518	NM_015346.4(ZFYVE26):c.5745A>G (p.Lys1915=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2991351	NM_015346.4(ZFYVE26):c.54A>G (p.Gly18=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2991262	NM_015346.4(ZFYVE26):c.6717T>C (p.Ile2239=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2990434	NM_015346.4(ZFYVE26):c.6015C>T (p.Tyr2005=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2989310	NM_015346.4(ZFYVE26):c.3019+10C>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2989309	NM_015346.4(ZFYVE26):c.3019+11del	ZFYVE26	Deletion (intron variant)	Spastic paraplegia	GLikely benign
Select item 2987351	NM_015346.4(ZFYVE26):c.393A>T (p.Ala131=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2985505	NM_015346.4(ZFYVE26):c.3304+20G>A	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2985393	NM_015346.4(ZFYVE26):c.1797T>G (p.Tyr599Ter)	ZFYVE26 (Y599*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2982163	NM_015346.4(ZFYVE26):c.3304+17T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2982065	NM_015346.4(ZFYVE26):c.168A>C (p.Ala56=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2981715	NM_015346.4(ZFYVE26):c.5514T>C (p.Cys1838=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2980097	NM_015346.4(ZFYVE26):c.6204T>C (p.Ala2068=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2977290	NM_015346.4(ZFYVE26):c.831T>C (p.His277=)	ZFYVE26	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2976781	NM_015346.4(ZFYVE26):c.385C>T (p.Gln129Ter)	ZFYVE26 (Q129*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2975888	NM_015346.4(ZFYVE26):c.3523+7A>G	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2974766	NM_015346.4(ZFYVE26):c.7371+17A>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2973378	NM_015346.4(ZFYVE26):c.4975-17A>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2973289	NM_015346.4(ZFYVE26):c.3139+14T>C	ZFYVE26	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign

<< First< Prev

Page of 30