9219[HGNC] - ClinVar

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Search results

Items: 57

	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	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 2511112	NM_004575.3(POU4F2):c.37A>G (p.Ser13Gly)	POU4F2 (S13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216955	NM_004575.3(POU4F2):c.52G>C (p.Gly18Arg)	POU4F2 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471395	NM_004575.3(POU4F2):c.120C>G (p.Ile40Met)	POU4F2 (I40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364790	NM_004575.3(POU4F2):c.136T>A (p.Ser46Thr)	POU4F2 (S46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216951	NM_004575.3(POU4F2):c.137C>A (p.Ser46Tyr)	POU4F2 (S46Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599615	NM_004575.3(POU4F2):c.158C>T (p.Ala53Val)	POU4F2 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557138	NM_004575.3(POU4F2):c.230G>A (p.Gly77Asp)	POU4F2 (G77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655112	NM_004575.3(POU4F2):c.265A>C (p.Arg89=)	POU4F2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216952	NM_004575.3(POU4F2):c.266G>A (p.Arg89Lys)	POU4F2 (R89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216953	NM_004575.3(POU4F2):c.284C>T (p.Pro95Leu)	POU4F2 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513811	NM_004575.3(POU4F2):c.320T>C (p.Leu107Pro)	POU4F2 (L107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320599	NM_004575.3(POU4F2):c.384C>A (p.His128Gln)	POU4F2 (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316488	NM_004575.3(POU4F2):c.392C>T (p.Pro131Leu)	POU4F2 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790312	NM_004575.3(POU4F2):c.417C>A (p.Asp139Glu)	POU4F2 (D139E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296796	NM_004575.3(POU4F2):c.455C>T (p.Ser152Leu)	POU4F2 (S152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290529	NM_004575.3(POU4F2):c.460G>A (p.Ala154Thr)	POU4F2 (A154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216956	NM_004575.3(POU4F2):c.634G>T (p.Val212Leu)	POU4F2 (V212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379106	NM_004575.3(POU4F2):c.644C>T (p.Thr215Met)	POU4F2 (T215M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487617	NM_004575.3(POU4F2):c.701G>C (p.Ser234Thr)	POU4F2 (S234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252171	NM_004575.3(POU4F2):c.779C>T (p.Ala260Val)	POU4F2 (A260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473639	NM_004575.3(POU4F2):c.790C>T (p.Arg264Cys)	POU4F2 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219521	NM_004575.3(POU4F2):c.850G>C (p.Ala284Pro)	POU4F2 (A284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529539	NM_004575.3(POU4F2):c.859A>C (p.Lys287Gln)	POU4F2 (K287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529868	NM_004575.3(POU4F2):c.875G>T (p.Gly292Val)	POU4F2 (G292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475826	NM_004575.3(POU4F2):c.907G>A (p.Glu303Lys)	POU4F2 (E303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781733	NM_004575.3(POU4F2):c.942G>T (p.Ala314=)	POU4F2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477712	NM_004575.3(POU4F2):c.1040G>A (p.Arg347His)	POU4F2 (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326503	NM_004575.3(POU4F2):c.1043A>G (p.Lys348Arg)	POU4F2 (K348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216949	NM_004575.3(POU4F2):c.1093G>T (p.Ala365Ser)	POU4F2 (A365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216950	NM_004575.3(POU4F2):c.1219G>A (p.Ala407Thr)	POU4F2 (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	ARHGAP10, C4orf51 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1340592	GRCh37/hg19 4q31.22(chr4:147319707-147970747)x3	POU4F2, SLC10A7 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980696	GRCh37/hg19 4q31.22-31.23(chr4:147148581-149042791)x3	EDNRA, PRMT9 +6 more	Copy number gain	not provided	GUncertain significance
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 687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	ARHGAP10, C4orf51 +11 more	Copy number loss	not provided	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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 57