ClinVar for Gene (Select 81609) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167256	NM_001330723.2(SNX27):c.74G>T (p.Gly25Val)	LOC129931442, SNX27 (G25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167255	NM_001330723.2(SNX27):c.59G>T (p.Gly20Val)	LOC129931442, SNX27 (G20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167254	NM_001330723.2(SNX27):c.1447G>C (p.Gly483Arg)	SNX27 (G483R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167253	NM_001330723.2(SNX27):c.139G>A (p.Val47Ile)	LOC129931442, SNX27 (V47I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167252	NM_001330723.2(SNX27):c.1027A>G (p.Ile343Val)	SNX27 (I343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3060478	NM_001330723.2(SNX27):c.1240-5_1240-3del	SNX27	Deletion (intron variant)	SNX27-related condition	GBenign
Select item 3058829	NM_001330723.2(SNX27):c.1240-10_1240-3dup	SNX27	Duplication (intron variant)	SNX27-related condition	GLikely benign
Select item 3037200	NM_001330723.2(SNX27):c.1240-4_1240-3dup	SNX27	Duplication (intron variant)	SNX27-related condition	GBenign
Select item 3034008	NM_001330723.2(SNX27):c.1240-9_1240-3dup	SNX27	Duplication (intron variant)	SNX27-related condition	GLikely benign
Select item 3017429	NM_001330723.2(SNX27):c.1167G>A (p.Lys389=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2994336	NM_001330723.2(SNX27):c.87C>T (p.His29=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2983825	NM_001330723.2(SNX27):c.864A>G (p.Thr288=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2981159	NM_001330723.2(SNX27):c.129C>T (p.Val43=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2980820	NM_001330723.2(SNX27):c.954T>C (p.Phe318=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2968069	NM_001330723.2(SNX27):c.933C>T (p.Asp311=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2956443	NM_001330723.2(SNX27):c.858G>A (p.Thr286=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2919755	NM_001330723.2(SNX27):c.840A>G (p.Ala280=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2914478	NM_001330723.2(SNX27):c.1240-14T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2909784	NM_001330723.2(SNX27):c.1240-18_1240-3del	SNX27	Deletion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2899525	NM_001330723.2(SNX27):c.544-5A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2864831	NM_001330723.2(SNX27):c.1578+100G>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2856805	NM_001330723.2(SNX27):c.1518+14G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2853362	NM_001330723.2(SNX27):c.312-14C>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2849407	NM_001330723.2(SNX27):c.1512G>A (p.Thr504=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2847753	NM_001330723.2(SNX27):c.975T>C (p.Ser325=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2839270	NM_001330723.2(SNX27):c.360G>C (p.Leu120=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2834654	NM_001330723.2(SNX27):c.312-9T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2831666	NM_001330723.2(SNX27):c.1063T>C (p.Leu355=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2830515	NM_001330723.2(SNX27):c.219G>A (p.Glu73=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2828828	NM_001330723.2(SNX27):c.727C>T (p.Leu243=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2825035	NM_001330723.2(SNX27):c.615G>A (p.Gln205=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2823252	NM_001330723.2(SNX27):c.1176C>T (p.Tyr392=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2820851	NM_001330723.2(SNX27):c.174G>C (p.Arg58=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2810832	NM_001330723.2(SNX27):c.573G>A (p.Gln191=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2809384	NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)	SNX27 (R492*)	Single nucleotide variant (nonsense)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2809156	NM_001330723.2(SNX27):c.1362T>C (p.His454=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2803642	NM_001330723.2(SNX27):c.1240-12_1240-11insCTT	SNX27	Insertion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2801366	NM_001330723.2(SNX27):c.1518+17G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2790206	NM_001330723.2(SNX27):c.311+15T>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2780344	NM_001330723.2(SNX27):c.907-6C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2780135	NM_001330723.2(SNX27):c.543+20G>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2766005	NM_001330723.2(SNX27):c.516T>C (p.His172=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2759549	NM_001330723.2(SNX27):c.1164G>T (p.Val388=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2756304	NM_001330723.2(SNX27):c.618C>T (p.Asn206=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2748539	NM_001330723.2(SNX27):c.311+20G>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2740666	NM_001330723.2(SNX27):c.1149+20T>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2726922	NM_001330723.2(SNX27):c.543+16A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2725553	NM_001330723.2(SNX27):c.93C>T (p.Ala31=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2719192	NM_001330723.2(SNX27):c.858G>T (p.Thr286=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2717709	NM_001330723.2(SNX27):c.311+13G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2714875	NM_001330723.2(SNX27):c.985+15C>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2714081	NM_001330723.2(SNX27):c.1390-15G>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2710701	NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)	SNX27 (R358*)	Single nucleotide variant (nonsense)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2704765	NM_001330723.2(SNX27):c.1390-20C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2704694	NM_001330723.2(SNX27):c.981C>T (p.Ser327=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2632546	NM_001330723.2(SNX27):c.464A>G (p.Tyr155Cys)	SNX27 (Y155C)	Single nucleotide variant (missense variant)	SNX27-related condition	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2553382	NM_001330723.2(SNX27):c.31C>T (p.Pro11Ser)	LOC129931442, SNX27 (P11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318787	NM_001330723.2(SNX27):c.347A>G (p.Gln116Arg)	SNX27 (Q116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313011	NM_001330723.2(SNX27):c.1073G>A (p.Arg358Gln)	SNX27 (R358Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273018	NM_001330723.2(SNX27):c.45C>G (p.His15Gln)	LOC129931442, SNX27 (H15Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242632	NM_001330723.2(SNX27):c.895C>G (p.Gln299Glu)	SNX27 (Q299E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194502	NM_001330723.2(SNX27):c.1390-12T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2192164	NM_001330723.2(SNX27):c.1149+18_1149+20del	SNX27	Microsatellite (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2187268	NM_001330723.2(SNX27):c.1216T>C (p.Tyr406His)	SNX27 (Y406H)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2172477	NM_001330723.2(SNX27):c.1578+94A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2171780	NM_001330723.2(SNX27):c.737-15_737-10del	SNX27	Deletion (intron variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2170018	NM_001330723.2(SNX27):c.1145A>T (p.His382Leu)	SNX27 (H382L)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2159874	NM_001330723.2(SNX27):c.217G>A (p.Glu73Lys)	SNX27 (E73K)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2153646	NM_001330723.2(SNX27):c.543+19C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2145089	NM_001330723.2(SNX27):c.906+17C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2144076	NM_001330723.2(SNX27):c.1560G>A (p.Glu520=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2142059	NM_001330723.2(SNX27):c.1240-17_1240-3del	SNX27	Deletion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2139247	NM_001330723.2(SNX27):c.1240-16_1240-3del	SNX27	Deletion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2133543	NM_001330723.2(SNX27):c.1096G>A (p.Glu366Lys)	SNX27 (E366K)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2126961	NM_001330723.2(SNX27):c.1227A>G (p.Arg409=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2123668	NM_001330723.2(SNX27):c.1290C>G (p.Pro430=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2122544	NM_001330723.2(SNX27):c.232C>T (p.Leu78=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2122069	NM_001330723.2(SNX27):c.870G>A (p.Arg290=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2109530	NM_001330723.2(SNX27):c.1389+16A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2106127	NM_001330723.2(SNX27):c.1486A>C (p.Lys496Gln)	SNX27 (K496Q)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2103838	NM_001330723.2(SNX27):c.737-4A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2103225	NM_001330723.2(SNX27):c.103G>A (p.Gly35Ser)	LOC129931442, SNX27 (G35S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2100974	NM_001330723.2(SNX27):c.1209G>A (p.Gln403=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2093419	NM_001330723.2(SNX27):c.997G>C (p.Ala333Pro)	SNX27 (A333P)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2082182	NM_001330723.2(SNX27):c.988C>T (p.Arg330Cys)	SNX27 (R330C)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2070573	NM_001330723.2(SNX27):c.986-3T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2070220	NM_001330723.2(SNX27):c.70G>C (p.Gly24Arg)	LOC129931442, SNX27 (G24R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2065486	NM_001330723.2(SNX27):c.1240-14_1240-3del	SNX27	Deletion (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2064354	NM_001330723.2(SNX27):c.844_846dup (p.Pro282_Asp283insPro)	SNX27	Duplication (inframe_insertion)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2061676	NM_001330723.2(SNX27):c.701C>T (p.Ala234Val)	SNX27 (A234V)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2059774	NM_001330723.2(SNX27):c.1313G>A (p.Arg438Lys)	SNX27 (R438K)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2058420	NM_001330723.2(SNX27):c.1150-13G>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2055997	NM_001330723.2(SNX27):c.795C>T (p.Ser265=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2049604	NM_001330723.2(SNX27):c.1135T>C (p.Tyr379His)	SNX27 (Y379H)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2039242	NM_001330723.2(SNX27):c.908C>G (p.Ala303Gly)	SNX27 (A303G)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 2027526	NM_001330723.2(SNX27):c.657C>T (p.Leu219=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2024177	NM_001330723.2(SNX27):c.369A>G (p.Ala123=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign

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