ClinVar for Gene (Select 84920) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283983	NM_032834.4(ALG10):c.32C>A (p.Ala11Asp)	ALG10 (A11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283974	NM_032834.4(ALG10):c.31G>A (p.Ala11Thr)	ALG10 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283963	NM_032834.4(ALG10):c.836G>A (p.Arg279Gln)	ALG10 (R279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283952	NM_032834.4(ALG10):c.1360A>C (p.Ile454Leu)	ALG10 (I454L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283943	NM_032834.4(ALG10):c.851C>G (p.Ala284Gly)	ALG10 (A284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110682	NM_032834.4(ALG10):c.682G>C (p.Ala228Pro)	ALG10 (A228P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110679	NM_032834.4(ALG10):c.611A>G (p.Lys204Arg)	ALG10 (K204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110674	NM_032834.4(ALG10):c.580G>C (p.Val194Leu)	ALG10 (V194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110625	NM_032834.4(ALG10):c.1288C>A (p.Pro430Thr)	ALG10 (P430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110614	NM_032834.4(ALG10):c.1130A>G (p.Tyr377Cys)	ALG10 (Y377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110604	NM_032834.4(ALG10):c.104A>G (p.Tyr35Cys)	ALG10 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3057080	NM_032834.4(ALG10):c.354A>G (p.Val118=)	ALG10	Single nucleotide variant (synonymous variant)	ALG10-related disorder	GLikely benign
Select item 3040080	NM_032834.4(ALG10):c.1366C>T (p.Leu456=)	ALG10	Single nucleotide variant (synonymous variant)	ALG10-related disorder	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2612090	NM_032834.4(ALG10):c.1134A>G (p.Ile378Met)	ALG10 (I378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605358	NM_032834.4(ALG10):c.1028C>G (p.Ala343Gly)	ALG10 (A343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562246	NM_032834.4(ALG10):c.272G>A (p.Cys91Tyr)	ALG10 (C91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553008	NM_032834.4(ALG10):c.230A>G (p.Lys77Arg)	ALG10 (K77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543954	NM_032834.4(ALG10):c.845A>C (p.His282Pro)	ALG10 (H282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543733	NM_032834.4(ALG10):c.401C>T (p.Thr134Ile)	ALG10 (T134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516846	NM_032834.4(ALG10):c.268G>T (p.Val90Phe)	ALG10 (V90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492657	NM_032834.4(ALG10):c.445C>G (p.Leu149Val)	ALG10 (L149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492117	NM_032834.4(ALG10):c.543T>G (p.Cys181Trp)	ALG10 (C181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469383	NM_032834.4(ALG10):c.1067T>C (p.Phe356Ser)	ALG10 (F356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459509	NM_032834.4(ALG10):c.1042C>A (p.Leu348Ile)	ALG10 (L348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455431	NM_032834.4(ALG10):c.1101A>T (p.Glu367Asp)	ALG10 (E367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2403382	NM_032834.4(ALG10):c.35C>A (p.Ala12Asp)	ALG10 (A12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380788	NM_032834.4(ALG10):c.557G>A (p.Arg186Gln)	ALG10 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346409	NM_032834.4(ALG10):c.1246C>T (p.Arg416Cys)	ALG10 (R416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346163	NM_032834.4(ALG10):c.617C>T (p.Thr206Met)	ALG10 (T206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339463	NM_032834.4(ALG10):c.278T>A (p.Ile93Asn)	ALG10 (I93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338224	NM_032834.4(ALG10):c.1076G>C (p.Trp359Ser)	ALG10 (W359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331169	NM_032834.4(ALG10):c.1388C>T (p.Pro463Leu)	ALG10 (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321738	NM_032834.4(ALG10):c.1247G>A (p.Arg416His)	ALG10 (R416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291314	NM_032834.4(ALG10):c.217A>G (p.Ile73Val)	ALG10 (I73V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249649	NM_032834.4(ALG10):c.251G>C (p.Gly84Ala)	ALG10 (G84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237478	NM_032834.4(ALG10):c.290G>A (p.Arg97Lys)	ALG10 (R97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225810	NM_032834.4(ALG10):c.373G>A (p.Ala125Thr)	ALG10 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210368	NM_032834.4(ALG10):c.1325G>A (p.Ser442Asn)	ALG10 (S442N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204835	NM_032834.4(ALG10):c.51T>G (p.Phe17Leu)	ALG10 (F17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 973850	GRCh37/hg19 12p11.1(chr12:33526428-34714602)x3	ALG10, SYT10	Copy number gain	Global developmental delay	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 785400	NM_032834.4(ALG10):c.402A>C (p.Thr134=)	ALG10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 776699	NM_032834.4(ALG10):c.729C>T (p.Ser243=)	ALG10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724358	NM_032834.4(ALG10):c.805G>A (p.Val269Ile)	ALG10 (V269I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563974	GRCh37/hg19 12p11.1(chr12:33526428-34835389)x4	SYT10, ALG10	Copy number gain	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 154842	GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3	ALG10, LINC02963 +9 more	Copy number gain	See cases	GLikely benign
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 149502	GRCh38/hg38 12p11.1(chr12:33899474-34603261)x3	ALG10, LINC02963 +7 more	Copy number gain	See cases	GLikely benign
Select item 147489	GRCh38/hg38 12p11.1(chr12:33669250-34603274)x3	ALG10, LINC02963 +7 more	Copy number gain	See cases	GUncertain significance
Select item 147428	GRCh38/hg38 12p11.1(chr12:33870396-34603274)x3	ALG10, LINC02963 +7 more	Copy number gain	See cases	GUncertain significance
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 32828	GRCh38/hg38 12p11.1(chr12:33392214-34603274)x3	ALG10, LINC02963 +9 more	Copy number gain	See cases	GUncertain significance
Select item 6496	NM_032834.4(ALG10):c.1339G>A (p.Val447Ile)	ALG10 (V447I)	Single nucleotide variant (missense variant)	Long QT syndrome 2	GBenign

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Links from Gene

Items: 78