ClinVar for Gene (Select 51809) - ClinVar

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Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280652	NM_017423.3(GALNT7):c.1267A>T (p.Ile423Leu)	GALNT7 (I296L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280650	NM_017423.3(GALNT7):c.940C>T (p.Leu314Phe)	GALNT7 (L314F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280649	NM_017423.3(GALNT7):c.1559A>G (p.Asp520Gly)	GALNT7 (D393G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280648	NM_017423.3(GALNT7):c.1091G>A (p.Arg364Gln)	GALNT7 (R364Q)	Single nucleotide variant (missense variant +1 more)	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 3098231	NM_017423.3(GALNT7):c.989T>C (p.Ile330Thr)	GALNT7 (I330T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098229	NM_017423.3(GALNT7):c.580C>G (p.Gln194Glu)	GALNT7 (Q194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098227	NM_017423.3(GALNT7):c.1451G>A (p.Arg484His)	GALNT7 (R484H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +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 2603551	NM_017423.3(GALNT7):c.233T>C (p.Val78Ala)	GALNT7 (V78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551661	NM_017423.3(GALNT7):c.277A>T (p.Asn93Tyr)	GALNT7 (N93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516015	NM_017423.3(GALNT7):c.397G>A (p.Gly133Ser)	GALNT7 (G133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478862	NM_017423.3(GALNT7):c.1138G>C (p.Glu380Gln)	GALNT7 (E380Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379198	NM_017423.3(GALNT7):c.1628C>G (p.Ala543Gly)	GALNT7 (A416G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358102	NM_017423.3(GALNT7):c.631G>A (p.Val211Ile)	GALNT7 (V211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338976	NM_017423.3(GALNT7):c.796A>C (p.Asn266His)	GALNT7 (N266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333230	NM_017423.3(GALNT7):c.1934C>T (p.Thr645Met)	GALNT7 (T518M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327510	NM_017423.3(GALNT7):c.565G>A (p.Val189Ile)	GALNT7 (V189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310841	NM_017423.3(GALNT7):c.1505G>A (p.Arg502Gln)	GALNT7 (R375Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301931	NM_017423.3(GALNT7):c.1799G>T (p.Cys600Phe)	GALNT7 (C567F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275978	NM_017423.3(GALNT7):c.585A>C (p.Glu195Asp)	GALNT7 (E195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265606	NM_017423.3(GALNT7):c.1471C>A (p.Pro491Thr)	GALNT7 (P364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263803	NM_017423.3(GALNT7):c.762A>T (p.Leu254Phe)	GALNT7 (L254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245389	NM_017423.3(GALNT7):c.703C>G (p.Pro235Ala)	GALNT7 (P235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243398	NM_017423.3(GALNT7):c.242A>G (p.Asp81Gly)	GALNT7 (D81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217137	NM_017423.3(GALNT7):c.292C>T (p.His98Tyr)	GALNT7 (H98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213337	NM_017423.3(GALNT7):c.1487C>T (p.Ser496Leu)	GALNT7 (S369L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
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 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 791990	NM_017423.3(GALNT7):c.1233T>C (p.Ile411=)	GALNT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767983	NM_017423.3(GALNT7):c.1461G>T (p.Ser487=)	GALNT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 562999	GRCh37/hg19 4q34.1(chr4:174106348-174175781)x1	GALNT7	Copy number loss	not provided	GUncertain significance
Select item 562998	GRCh37/hg19 4q34.1(chr4:173761915-174501054)x3	HAND2, HMGB2 +4 more	Copy number gain	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 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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	AADAT, ADAM29 +46 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	AADAT, ADAM29 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 221441	GRCh37/hg19 4q34.1(chr4:173873299-174090050)x4	GALNT7, GALNTL6	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 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 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 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 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	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 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 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 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	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 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	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 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 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 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 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 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 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 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 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 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

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Links from Gene

Items: 92