ClinVar for Gene (Select 353322) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297589	NM_181726.4(ANKRD37):c.4C>G (p.Leu2Val)	ANKRD37, LRP2BP (L2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3126284	NM_181726.4(ANKRD37):c.5T>A (p.Leu2Gln)	ANKRD37, LRP2BP (L2Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126261	NM_181726.4(ANKRD37):c.118G>A (p.Gly40Arg)	ANKRD37, LRP2BP (G40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065681	NM_018359.5(UFSP2):c.1333G>A (p.Gly445Arg)	ANKRD37, UFSP2 (G445R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
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 2684402	GRCh37/hg19 4q35.1(chr4:185978584-186403683)x3	ANKRD37, CCDC110 +6 more	Copy number gain	not provided	GUncertain significance
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 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2523961	NM_181726.4(ANKRD37):c.314G>C (p.Trp105Ser)	ANKRD37, UFSP2 (W105S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521401	NM_181726.4(ANKRD37):c.123C>A (p.Ser41Arg)	ANKRD37, LRP2BP (S41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389732	NM_181726.4(ANKRD37):c.289G>A (p.Gly97Arg)	ANKRD37, UFSP2 (G97R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350405	NM_181726.4(ANKRD37):c.130G>A (p.Ala44Thr)	ANKRD37, LRP2BP (A44T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328497	NM_181726.4(ANKRD37):c.364A>G (p.Met122Val)	ANKRD37, UFSP2 (M122V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272848	NM_181726.4(ANKRD37):c.415G>A (p.Val139Met)	ANKRD37, UFSP2 (V139M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230707	NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)	ANKRD37, UFSP2 (K447T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809662	NM_018359.5(UFSP2):c.1376A>C (p.Asn459Thr)	ANKRD37, UFSP2 (N459T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808446	GRCh37/hg19 4q35.1(chr4:186160654-186422579)x1	ANKRD37, CCDC110 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807774	GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	ANKRD37, CCDC110 +16 more	Copy number loss	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 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527144	GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)	KLKB1, LRP2BP +15 more	Copy number gain	not specified	GUncertain significance
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	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 1374349	NC_000004.11:g.(?_186064527)_(187630981_?)del	ANKRD37, CCDC110 +15 more	Deletion	not provided	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 814644	GRCh37/hg19 4q35.1(chr4:186210279-186578562)x3	PDLIM3, SNX25 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814641	GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3	ANKRD37, CCDC110 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	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 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688997	GRCh37/hg19 4q35.1(chr4:186031029-186490645)x3	ANKRD37, CCDC110 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688649	GRCh37/hg19 4q35.1(chr4:186260521-186402695)x3	ANKRD37, CCDC110 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688505	GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3	ACSL1, ANKRD37 +13 more	Copy number gain	not provided	GUncertain significance
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 686744	GRCh37/hg19 4q35.1(chr4:186156239-186787416)x3	ANKRD37, CCDC110 +6 more	Copy number gain	not provided	GUncertain significance
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 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	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 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 563009	GRCh37/hg19 4q35.1(chr4:186137605-186403683)x3	ANKRD37, CCDC110 +4 more	Copy number gain	not provided	GLikely benign
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
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 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	ANKRD37, CCDC110 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 454473	NC_000004.11:g.(?_186064507)_(186436064_?)dup	ANKRD37, CCDC110 +7 more	Duplication	Primary dilated cardiomyopathy +1 more	GUncertain significance
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 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 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 441943	GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	ACSL1, ANKRD37 +16 more	Copy number gain	See cases	GLikely benign
Select item 441917	GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3	ANKRD37, CCDC110 +18 more	Copy number gain	See cases	GUncertain significance
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 441597	GRCh37/hg19 4q35.1(chr4:185979169-186790163)x3	ANKRD37, CCDC110 +8 more	Copy number gain	See cases	GUncertain significance
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 395430	GRCh37/hg19 4q35.1-35.2(chr4:186252440-190713591)x1	ANKRD37, CCDC110 +16 more	Copy number loss	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 394376	GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1	LRP2BP, TRIML1 +24 more	Copy number loss	See cases	GPathogenic
Select item 394092	GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	ACSL1, ANKRD37 +23 more	Copy number gain	See cases	GUncertain significance
Select item 394000	GRCh37/hg19 4q35.1(chr4:185787209-186451149)x3	ANKRD37, CCDC110 +8 more	Copy number gain	See cases	GLikely benign
Select item 393762	GRCh37/hg19 4q35.1(chr4:186315908-186392061)x3	ANKRD37, CCDC110 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253676	GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1	ANKRD37, CCDC110 +19 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 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic
Select item 224821	NM_018359.5(UFSP2):c.1373A>G (p.Tyr458Cys)	ANKRD37, UFSP2 (Y458C)	Single nucleotide variant (missense variant +1 more)	Cerebral visual impairment and intellectual disability	GLikely pathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
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 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 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 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic

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