ClinVar for Gene (Select 9870) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644370	NM_001039479.2(AREL1):c.1206G>A (p.Val402=)	AREL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609691	NM_001039479.2(AREL1):c.622G>A (p.Glu208Lys)	AREL1 (E198K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598944	NM_001039479.2(AREL1):c.209A>G (p.Tyr70Cys)	AREL1 (Y70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551970	NM_001039479.2(AREL1):c.557C>A (p.Thr186Asn)	AREL1 (T176N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548589	NM_001039479.2(AREL1):c.1357G>A (p.Val453Ile)	AREL1 (V443I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542406	NM_001039479.2(AREL1):c.1679G>T (p.Gly560Val)	AREL1 (G560V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542405	NM_001039479.2(AREL1):c.1678G>C (p.Gly560Arg)	AREL1 (G550R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532154	NM_001039479.2(AREL1):c.1961C>T (p.Ala654Val)	AREL1 (A644V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528828	NM_001039479.2(AREL1):c.842A>C (p.Lys281Thr)	AREL1 (K271T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526407	NM_001039479.2(AREL1):c.1987C>A (p.Leu663Met)	AREL1 (L663M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495565	NM_001039479.2(AREL1):c.118C>T (p.Arg40Cys)	AREL1 (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476406	NM_001039479.2(AREL1):c.1642C>T (p.Arg548Cys)	AREL1 (R538C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474003	NM_001039479.2(AREL1):c.467A>G (p.Lys156Arg)	AREL1 (K146R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462233	NM_001039479.2(AREL1):c.551C>T (p.Pro184Leu)	AREL1 (P174L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456029	NM_001039479.2(AREL1):c.260G>A (p.Gly87Glu)	AREL1 (G87E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384244	NM_001039479.2(AREL1):c.857G>C (p.Arg286Pro)	AREL1 (R276P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341418	NM_001039479.2(AREL1):c.2452G>C (p.Glu818Gln)	AREL1 (E808Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322676	NM_001039479.2(AREL1):c.845A>G (p.Asn282Ser)	AREL1 (N282S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317136	NM_001039479.2(AREL1):c.1736G>A (p.Arg579His)	AREL1 (R569H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302858	NM_001039479.2(AREL1):c.53C>T (p.Thr18Ile)	AREL1 (T18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302648	NM_001039479.2(AREL1):c.1825A>G (p.Lys609Glu)	AREL1 (K599E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301731	NM_001039479.2(AREL1):c.113G>A (p.Arg38His)	AREL1 (R38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295506	NM_001039479.2(AREL1):c.2348C>T (p.Thr783Met)	AREL1 (T783M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294962	NM_001039479.2(AREL1):c.115G>A (p.Glu39Lys)	AREL1 (E39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272513	NM_001039479.2(AREL1):c.151C>T (p.Arg51Trp)	AREL1 (R51W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254838	NM_001039479.2(AREL1):c.568G>A (p.Val190Ile)	AREL1 (V180I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231118	NM_001039479.2(AREL1):c.1049C>T (p.Pro350Leu)	AREL1 (P340L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228012	NM_001039479.2(AREL1):c.1760A>G (p.Gln587Arg)	AREL1 (Q577R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226947	NM_001039479.2(AREL1):c.1124G>A (p.Arg375His)	AREL1 (R375H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224961	NM_001039479.2(AREL1):c.1781A>G (p.His594Arg)	AREL1 (H584R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221975	NM_001039479.2(AREL1):c.1561A>G (p.Thr521Ala)	AREL1 (T511A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218556	NM_001039479.2(AREL1):c.121C>G (p.Arg41Gly)	AREL1 (R41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217886	NM_001039479.2(AREL1):c.373G>A (p.Val125Ile)	AREL1 (V115I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209437	NM_001039479.2(AREL1):c.2248C>T (p.Arg750Trp)	AREL1 (R740W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 801395	NM_001040108.2(MLH3):c.1189_1191del (p.Ile397del)	AREL1, MLH3 (I397del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 5561	NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)	AREL1, MLH3 (V741F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

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Links from Gene

Items: 54