23443[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 146798	GRCh38/hg38 1p21.2(chr1:99515860-100031916)x3	AGL, FRRS1 +13 more	Copy number gain	See cases	GLikely benign
Select item 1287332	NM_012243.3(SLC35A3):c.-57C>T	LOC129931010, SLC35A3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1185185	NM_012243.3(SLC35A3):c.-19+415A>G	SLC35A3 (D14G)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome +1 more	GBenign
Select item 1218622	NM_012243.3(SLC35A3):c.-19+551T>A	SLC35A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280104	NM_012243.3(SLC35A3):c.-19+697T>C	SLC35A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189507	NM_012243.3(SLC35A3):c.-18-299G>A	SLC35A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234806	NM_012243.3(SLC35A3):c.-18-72C>T	SLC35A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686985	NM_012243.3(SLC35A3):c.-18-1G>T	SLC35A3	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 784918	NM_012243.3(SLC35A3):c.6C>T (p.Phe2=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GBenign
Select item 864612	NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr)	SLC35A3 (N46T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1652504	NM_012243.3(SLC35A3):c.12C>T (p.Asn4=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1433891	NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)	SLC35A3 (Y49* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1114294	NM_012243.3(SLC35A3):c.21C>T (p.Tyr7=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 474760	NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile)	SLC35A3 (V8I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2176187	NM_012243.3(SLC35A3):c.28C>T (p.Leu10=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1456292	NM_012243.3(SLC35A3):c.38del (p.Leu13fs)	SLC35A3 (L13fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 569299	NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile)	SLC35A3 (V14I +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2736278	NM_012243.3(SLC35A3):c.42C>A (p.Val14=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 707164	NM_012243.3(SLC35A3):c.42C>G (p.Val14=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1996483	NM_012243.3(SLC35A3):c.45del (p.Gln16fs)	SLC35A3 (Q58fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 839178	NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser)	SLC35A3 (F15S +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1519481	NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala)	SLC35A3 (T17A +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1115191	NM_012243.3(SLC35A3):c.54C>G (p.Thr18=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1099744	NM_012243.3(SLC35A3):c.63T>A (p.Val21=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 474763	NM_012243.3(SLC35A3):c.63T>G (p.Val21=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2747801	NM_012243.3(SLC35A3):c.69A>T (p.Thr23=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1686983	NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)	SLC35A3 (R25C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1686982	NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu)	SLC35A3 (R67L)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 661077	NM_012243.3(SLC35A3):c.74G>A (p.Arg25His)	SLC35A3 (R67H +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1967395	NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn)	SLC35A3 (Y26N +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2071158	NM_012243.3(SLC35A3):c.81C>G (p.Ser27=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2181451	NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)	SLC35A3 (E33del +1 more)	Microsatellite (inframe_deletion)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2125837	NM_012243.3(SLC35A3):c.96A>G (p.Glu32=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 936811	NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr)	SLC35A3 (P35T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2472182	NM_012243.3(SLC35A3):c.104C>G (p.Pro35Arg)	SLC35A3 (P35R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 956734	NM_012243.3(SLC35A3):c.107G>A (p.Arg36His)	SLC35A3 (R78H +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 541616	NM_012243.3(SLC35A3):c.114A>G (p.Leu38=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2843677	NM_012243.3(SLC35A3):c.120T>A (p.Ser40=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2694181	NM_012243.3(SLC35A3):c.123A>G (p.Thr41=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2106276	NM_012243.3(SLC35A3):c.126A>C (p.Ala42=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2983583	NM_012243.3(SLC35A3):c.147G>A (p.Leu49=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1614959	NM_012243.3(SLC35A3):c.150G>A (p.Lys50=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2741483	NM_012243.3(SLC35A3):c.168A>G (p.Leu56=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1520205	NM_012243.3(SLC35A3):c.174C>T (p.Val58=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1118450	NM_012243.3(SLC35A3):c.174C>G (p.Val58=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2244309	NM_012243.3(SLC35A3):c.175T>C (p.Tyr59His)	SLC35A3 (Y101H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752705	NM_012243.3(SLC35A3):c.177C>T (p.Tyr59=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2855115	NM_012243.3(SLC35A3):c.183C>T (p.Asp61=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 541612	NM_012243.3(SLC35A3):c.187+5G>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2803647	NM_012243.3(SLC35A3):c.187+9C>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1615803	NM_012243.3(SLC35A3):c.187+10T>C	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2823008	NM_012243.3(SLC35A3):c.187+18_187+19dup	SLC35A3	Duplication (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1621236	NM_012243.3(SLC35A3):c.187+13G>A	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2862393	NM_012243.3(SLC35A3):c.187+20G>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1229353	NM_012243.3(SLC35A3):c.187+79A>G	SLC35A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238382	NM_012243.3(SLC35A3):c.187+168_187+172dup	SLC35A3	Duplication (intron variant)	not provided	GBenign
Select item 1282845	NM_012243.3(SLC35A3):c.188-189T>C	SLC35A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277897	NM_012243.3(SLC35A3):c.188-179C>T	SLC35A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2882923	NM_012243.3(SLC35A3):c.188-14A>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2856710	NM_012243.3(SLC35A3):c.188-12_188-11del	SLC35A3	Microsatellite (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 541617	NM_012243.3(SLC35A3):c.188-10T>C	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2807529	NM_012243.3(SLC35A3):c.188-1G>T	SLC35A3	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely pathogenic
Select item 2095930	NM_012243.3(SLC35A3):c.189A>G (p.Lys63=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 951995	NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr)	SLC35A3 (C106Y +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1436372	NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile)	SLC35A3 (S65I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1115930	NM_012243.3(SLC35A3):c.198A>G (p.Leu66=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1098045	NM_012243.3(SLC35A3):c.201A>G (p.Arg67=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2767724	NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)	SLC35A3	Deletion (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 1126971	NM_012243.3(SLC35A3):c.210T>C (p.Asn70=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1071574	NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)	SLC35A3 (R113* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 1069535	NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs)	SLC35A3 (N121fs +1 more)	Insertion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 1906741	NM_012243.3(SLC35A3):c.231T>C (p.Ile77=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2964260	NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2181034	NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)	SLC35A3 (E83A +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 793818	NM_012243.3(SLC35A3):c.252A>C (p.Thr84=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 798816	NM_012243.3(SLC35A3):c.264T>C (p.Ala88=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1619837	NM_012243.3(SLC35A3):c.267T>A (p.Ile89=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2201065	NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)	SLC35A3 (P132L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 934617	NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr)	SLC35A3 (I93T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1564600	NM_012243.3(SLC35A3):c.282T>C (p.Tyr94=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 3011882	NM_012243.3(SLC35A3):c.285T>C (p.Thr95=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2996209	NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)	SLC35A3 (L138fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 1146689	NM_012243.3(SLC35A3):c.300A>G (p.Leu100=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1086536	NM_012243.3(SLC35A3):c.301C>T (p.Leu101=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1149631	NM_012243.3(SLC35A3):c.303G>A (p.Leu101=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2731881	NM_012243.3(SLC35A3):c.313C>T (p.Leu105=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 1121141	NM_012243.3(SLC35A3):c.327T>C (p.Asp109=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 990723	NM_012243.3(SLC35A3):c.328G>A (p.Ala110Thr)	SLC35A3 (A110T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 935709	NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly)	SLC35A3 (A110G +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 1570056	NM_012243.3(SLC35A3):c.330A>G (p.Ala110=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2153562	NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)	SLC35A3	Single nucleotide variant (synonymous variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2107218	NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)	SLC35A3 (Q114* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GPathogenic
Select item 541613	NM_012243.3(SLC35A3):c.342+1G>A	SLC35A3	Single nucleotide variant (splice donor variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely pathogenic
Select item 1005911	NM_012243.3(SLC35A3):c.342+4C>T	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GUncertain significance
Select item 2972226	NM_012243.3(SLC35A3):c.342+12A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 3015770	NM_012243.3(SLC35A3):c.342+14A>G	SLC35A3	Single nucleotide variant (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign
Select item 2883771	NM_012243.3(SLC35A3):c.342+22_342+25del	SLC35A3	Microsatellite (intron variant)	Autism spectrum disorder - epilepsy - arthrogryposis syndrome	GLikely benign

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