C0751122[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 688

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1059758	NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)	SNX27, LOC129931442 (D5E)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
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 1928993	NM_001330723.2(SNX27):c.16G>C (p.Gly6Arg)	LOC129931442, SNX27 (G6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 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 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 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 849829	NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)	LOC129931442, SNX27 (P14S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 462814	NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu)	SNX27, LOC129931442 (P14L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 1465205	NM_001330723.2(SNX27):c.211A>C (p.Asn71His)	SNX27 (N71H)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 957017	NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp)	SNX27 (N71D)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 850142	NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys)	SNX27 (N71K)	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 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 1123900	NM_001330723.2(SNX27):c.231G>A (p.Pro77=)	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 462813	NM_001330723.2(SNX27):c.234G>A (p.Leu78=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 654736	NM_001330723.2(SNX27):c.238C>G (p.His80Asp)	SNX27 (H80D)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1378775	NM_001330723.2(SNX27):c.239A>T (p.His80Leu)	SNX27 (H80L)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1099693	NM_001330723.2(SNX27):c.240T>C (p.His80=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1508285	NM_001330723.2(SNX27):c.247_248delinsTT (p.Ala83Phe)	SNX27 (A83F)	Indel (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 793587	NM_001330723.2(SNX27):c.249C>T (p.Ala83=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1583624	NM_001330723.2(SNX27):c.252G>C (p.Val84=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 644220	NM_001330723.2(SNX27):c.265dup (p.Ala89fs)	SNX27 (A89fs)	Duplication (frameshift variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1399959	NM_001330723.2(SNX27):c.259G>A (p.Gly87Arg)	SNX27 (G87R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1399302	NM_001330723.2(SNX27):c.259G>C (p.Gly87Arg)	SNX27 (G87R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 650451	NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp)	SNX27 (G87W)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 943024	NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala)	SNX27 (G87A)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1020699	NM_001330723.2(SNX27):c.261G>T (p.Gly87=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 849184	NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala)	SNX27 (G88A)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 840081	NM_001330723.2(SNX27):c.264G>T (p.Gly88=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1365797	NM_001330723.2(SNX27):c.271G>T (p.Asp91Tyr)	SNX27 (D91Y)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 855606	NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu)	SNX27 (R92L)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1133339	NM_001330723.2(SNX27):c.279C>A (p.Ala93=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 946263	NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)	SNX27 (G98R)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1472117	NM_001330723.2(SNX27):c.298C>A (p.Arg100Ser)	SNX27 (R100S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1977199	NM_001330723.2(SNX27):c.304C>T (p.Leu102=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1147040	NM_001330723.2(SNX27):c.306G>C (p.Leu102=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1158536	NM_001330723.2(SNX27):c.311+9C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2007427	NM_001330723.2(SNX27):c.311+11G>A	SNX27	Single nucleotide variant (intron 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 2790206	NM_001330723.2(SNX27):c.311+15T>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1529630	NM_001330723.2(SNX27):c.311+22_311+38dup	SNX27	Duplication (intron 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 1969879	NM_001330723.2(SNX27):c.311+20G>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1579090	NM_001330723.2(SNX27):c.312-16C>G	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 2834654	NM_001330723.2(SNX27):c.312-9T>C	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 860592	NM_001330723.2(SNX27):c.317A>C (p.His106Pro)	SNX27 (H106P)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 760095	NM_001330723.2(SNX27):c.318C>T (p.His106=)	SNX27	Single nucleotide variant (synonymous variant)	SNX27-related condition +1 more	GLikely benign
Select item 972299	NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)	SNX27 (N108S)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1610620	NM_001330723.2(SNX27):c.336G>A (p.Ala112=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1083324	NM_001330723.2(SNX27):c.336G>C (p.Ala112=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 531723	NM_001330723.2(SNX27):c.342C>T (p.His114=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1087814	NM_001330723.2(SNX27):c.345G>A (p.Lys115=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 1955922	NM_001330723.2(SNX27):c.351G>C (p.Val117=)	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

<< First< Prev

Page of 7