GALNTL6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 151702	GRCh38/hg38 4q33-34.1(chr4:170477367-173073936)x1	GALNTL6, GALNTL6-AS1 +16 more	Copy number loss	See cases	GLikely benign
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 59508	GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1	ADAM29, AGA +85 more	Copy number loss	See cases	GPathogenic
Select item 154457	GRCh38/hg38 4q34.1(chr4:171909804-172200287)x1	GALNTL6, LOC123493240	Copy number loss	See cases	GLikely benign
Select item 154649	GRCh38/hg38 4q34.1(chr4:172200228-172684931)x1	GALNTL6, GALNTL6-AS1	Copy number loss	See cases	GLikely benign
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 2208959	NM_001034845.3(GALNTL6):c.212A>T (p.Asp71Val)	GALNTL6 (D71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368191	NM_001034845.3(GALNTL6):c.293A>G (p.His98Arg)	GALNTL6 (H98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280665	NM_001034845.3(GALNTL6):c.298G>A (p.Asp100Asn)	GALNTL6 (D100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353679	NM_001034845.3(GALNTL6):c.376C>T (p.Arg126Cys)	GALNTL6 (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352843	NM_001034845.3(GALNTL6):c.394C>T (p.His132Tyr)	GALNTL6 (H132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098253	NM_001034845.3(GALNTL6):c.451G>C (p.Glu151Gln)	GALNTL6 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 3098254	NM_001034845.3(GALNTL6):c.590G>A (p.Arg197Gln)	GALNTL6 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098255	NM_001034845.3(GALNTL6):c.641G>A (p.Arg214Gln)	GALNTL6 (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098256	NM_001034845.3(GALNTL6):c.647G>A (p.Arg216His)	GALNTL6 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410141	NM_001034845.3(GALNTL6):c.800A>G (p.Asn267Ser)	GALNTL6 (N267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467704	NM_001034845.3(GALNTL6):c.844G>A (p.Ala282Thr)	GALNTL6 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590036	NM_001034845.3(GALNTL6):c.901G>A (p.Ala301Thr)	GALNTL6 (A301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343633	NM_001034845.3(GALNTL6):c.962G>A (p.Arg321Gln)	GALNTL6 (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463846	NM_001034845.3(GALNTL6):c.964A>G (p.Lys322Glu)	GALNTL6 (K322E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227153	NM_001034845.3(GALNTL6):c.1111G>A (p.Val371Ile)	GALNTL6 (V371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320170	NM_001034845.3(GALNTL6):c.1284G>T (p.Lys428Asn)	GALNTL6 (K428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214524	NM_001034845.3(GALNTL6):c.1333T>C (p.Tyr445His)	GALNTL6 (Y445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098251	NM_001034845.3(GALNTL6):c.1342G>A (p.Val448Met)	GALNTL6 (V448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590746	NM_001034845.3(GALNTL6):c.1352C>T (p.Pro451Leu)	GALNTL6 (P451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259878	NM_001034845.3(GALNTL6):c.1423G>A (p.Gly475Arg)	GALNTL6 (G475R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235864	NM_001034845.3(GALNTL6):c.1450G>A (p.Val484Ile)	GALNTL6 (V484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280664	NM_001034845.3(GALNTL6):c.1471A>T (p.Thr491Ser)	GALNTL6 (T491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515229	NM_001034845.3(GALNTL6):c.1520G>A (p.Arg507Gln)	GALNTL6 (R507Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098252	NM_001034845.3(GALNTL6):c.1582G>A (p.Val528Ile)	GALNTL6 (V528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239528	NM_001034845.3(GALNTL6):c.1685A>G (p.Asn562Ser)	GALNTL6 (N562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339605	NM_001034845.3(GALNTL6):c.1697A>G (p.Lys566Arg)	GALNTL6 (K566R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259204	NM_001034845.3(GALNTL6):c.1700A>T (p.Lys567Met)	GALNTL6 (K567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466842	NM_001034845.3(GALNTL6):c.1709T>C (p.Met570Thr)	GALNTL6 (M570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466785	NM_001034845.3(GALNTL6):c.1712C>A (p.Ala571Asp)	GALNTL6 (A571D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246756	NC_000004.11:g.(?_171788098)_(175916898_?)del	ADAM29, CEP44 +9 more	Deletion	not provided	GUncertain significance
Select item 3148912	GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3	ADAM29, AGA +17 more	Copy number gain	not provided	GPathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062763	GRCh37/hg19 4q34.1(chr4:173734510-173842451)x3	GALNTL6	Copy number gain	not specified	GUncertain significance
Select item 3062758	GRCh37/hg19 4q34.1(chr4:173092167-173663830)x1	GALNTL6	Copy number loss	not specified	GUncertain significance
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527135	GRCh37/hg19 4q34.1(chr4:172523893-173316244)	GALNTL6	Copy number loss	not specified	GUncertain significance
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340038	GRCh37/hg19 4q34.1(chr4:172720330-172781635)x1	GALNTL6	Copy number loss	not provided	GUncertain significance
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	AADAT, ADAM29 +35 more	Copy number loss	See cases	GPathogenic
Select item 980709	GRCh37/hg19 4q34.1(chr4:173092167-173482496)x3	GALNTL6	Copy number gain	not provided	GUncertain significance
Select item 814632	GRCh37/hg19 4q34.1(chr4:173710282-173948102)x3	GALNTL6	Copy number gain	not provided	GUncertain significance
Select item 814630	GRCh37/hg19 4q33-34.1(chr4:171505226-173149981)x3	GALNTL6	Copy number gain	not provided	GUncertain significance
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 686396	GRCh37/hg19 4q33-34.1(chr4:171508788-173150022)x3	GALNTL6	Copy number gain	not provided	GUncertain significance
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	CPE, DDX60 +36 more	Copy number gain	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 635933	Single allele	SCRG1, SPATA4 +17 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 562998	GRCh37/hg19 4q34.1(chr4:173761915-174501054)x3	HAND2, HMGB2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562997	GRCh37/hg19 4q34.1(chr4:173665386-173945068)x1	GALNTL6	Copy number loss	not provided	GUncertain significance
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 560098	Single allele	CBR4, CLCN3 +23 more	Deletion	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443403	GRCh37/hg19 4q34.1-34.2(chr4:173907396-176305880)x4	ADAM29, CEP44 +9 more	Copy number gain	See cases	GUncertain significance
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 442649	GRCh37/hg19 4q34.1(chr4:172360849-172832692)x1	GALNTL6	Copy number loss	See cases	GUncertain significance
Select item 442543	GRCh37/hg19 4q34.1(chr4:172259270-172781635)x3	GALNTL6	Copy number gain	See cases	GUncertain significance
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic

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