Related gene-specific medical variations for Gene (Select 81609) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321306	NM_001330723.2(SNX27):c.20A>G (p.Glu7Gly)	LOC129931442, SNX27 (E7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 2013226	NM_001330723.2(SNX27):c.27T>G (p.Ile9Met)	LOC129931442, SNX27 (I9M)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1928993	NM_001330723.2(SNX27):c.16G>C (p.Gly6Arg)	LOC129931442, SNX27 (G6R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 1632436	NM_001330723.2(SNX27):c.84C>T (p.Leu28=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1616083	NM_001330723.2(SNX27):c.33C>T (p.Pro11=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1546626	NM_001330723.2(SNX27):c.198A>G (p.Gln66=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1539625	NM_001330723.2(SNX27):c.81G>A (p.Gly27=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1525964	NM_001330723.2(SNX27):c.70G>A (p.Gly24Arg)	LOC129931442, SNX27 (G24R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1506035	NM_001330723.2(SNX27):c.1_2insAGGGACATAGTAATTTCCGTTGTTTCATGTTCTAATCTGTATATGGAAGTTTCATTGACAAGCTCATAAAATGGCAGTTCCACACAACTTTGGGAAGCAATAATTTACATTATTAAAATTATCCTGAAAA (p.Met1delinsLysGlyHisSerAsnPheArgCysPheMetPheTer)	LOC129931442, SNX27	Insertion (nonsense +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1469123	NM_001330723.2(SNX27):c.14A>C (p.Asp5Ala)	LOC129931442, SNX27 (D5A)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1464331	NM_001330723.2(SNX27):c.130G>T (p.Val44Leu)	LOC129931442, SNX27 (V44L)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1433783	NM_001330723.2(SNX27):c.88_99del (p.Cys30_Asn33del)	LOC129931442, SNX27	Deletion (inframe_deletion)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1387654	NM_001330723.2(SNX27):c.105C>T (p.Gly35=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1362637	NM_001330723.2(SNX27):c.179A>C (p.Gln60Pro)	LOC129931442, SNX27 (Q60P)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1350094	NM_001330723.2(SNX27):c.56G>A (p.Gly19Asp)	LOC129931442, SNX27 (G19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1145075	NM_001330723.2(SNX27):c.75G>A (p.Gly25=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1124691	NM_001330723.2(SNX27):c.199C>T (p.Leu67=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1115743	NM_001330723.2(SNX27):c.99C>T (p.Asn33=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1112223	NM_001330723.2(SNX27):c.189G>A (p.Glu63=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1104206	NM_001330723.2(SNX27):c.6G>T (p.Ala2=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1079176	NM_001330723.2(SNX27):c.141C>T (p.Val47=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1077315	NM_001330723.2(SNX27):c.138C>T (p.Ile46=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1061117	NM_001330723.2(SNX27):c.19G>A (p.Glu7Lys)	LOC129931442, SNX27 (E7K)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1059758	NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)	LOC129931442, SNX27 (D5E)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 1058737	NM_001330723.2(SNX27):c.70G>T (p.Gly24Trp)	LOC129931442, SNX27 (G24W)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1035029	NM_001330723.2(SNX27):c.160G>A (p.Gly54Ser)	SNX27, LOC129931442 (G54S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1026063	NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)	LOC129931442, SNX27 (G6V)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +2 more	GUncertain significance
Select item 1018332	NM_001330723.2(SNX27):c.53G>C (p.Gly18Ala)	LOC129931442, SNX27 (G18A)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 999664	NM_001330723.2(SNX27):c.130G>C (p.Val44Leu)	LOC129931442, SNX27 (V44L)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 969071	NM_001330723.2(SNX27):c.110G>A (p.Gly37Glu)	LOC129931442, SNX27 (G37E)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 955764	NM_001330723.2(SNX27):c.49A>C (p.Asn17His)	LOC129931442, SNX27 (N17H)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 949698	NM_001330723.2(SNX27):c.40C>A (p.Pro14Thr)	LOC129931442, SNX27 (P14T)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 948018	NM_001330723.2(SNX27):c.17G>A (p.Gly6Glu)	LOC129931442, SNX27 (G6E)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 853884	NM_001330723.2(SNX27):c.106_120del (p.Gly36_Gly40del)	LOC129931442, SNX27	Deletion (inframe_deletion)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 850501	NM_001330723.2(SNX27):c.120C>T (p.Gly40=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 849829	NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)	LOC129931442, SNX27 (P14S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 837148	NM_001330723.2(SNX27):c.92C>T (p.Ala31Val)	LOC129931442, SNX27 (A31V)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 759447	NM_001330723.2(SNX27):c.72G>A (p.Gly24=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 752794	NM_001330723.2(SNX27):c.147C>T (p.Ser49=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 733723	NM_001330723.2(SNX27):c.15C>T (p.Asp5=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 650341	NM_001330723.2(SNX27):c.69C>T (p.Gly23=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 566242	NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp)	LOC129931442, SNX27 (G25W)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 531726	NM_001330723.2(SNX27):c.18G>A (p.Gly6=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GBenign
Select item 531717	NM_001330723.2(SNX27):c.60CGG[6] (p.Gly24_Gly25dup)	LOC129931442, SNX27	Microsatellite (inframe_insertion)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 462816	NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup)	LOC129931442, SNX27	Microsatellite (inframe_insertion)	Severe myoclonic epilepsy in infancy	GBenign
Select item 462814	NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu)	LOC129931442, SNX27 (P14L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 462805	NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)	LOC129931442, SNX27 (G40S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance

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Links from Gene

Items: 58