AJUBA[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 2350909	NM_032876.6(AJUBA):c.1498C>T (p.Arg500Trp)	AJUBA (R500W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550927	NM_032876.6(AJUBA):c.1376A>G (p.Tyr459Cys)	AJUBA (Y42C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315190	NM_032876.6(AJUBA):c.866G>A (p.Gly289Asp)	AJUBA (G289D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457822	NM_032876.6(AJUBA):c.760A>G (p.Arg254Gly)	AJUBA (R254G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624155	NM_032876.6(AJUBA):c.722T>C (p.Leu241Pro)	AJUBA (L241P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557362	NM_032876.6(AJUBA):c.626C>G (p.Ala209Gly)	AJUBA (A209G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331415	NM_032876.6(AJUBA):c.616G>A (p.Glu206Lys)	AJUBA (E206K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210710	NM_032876.6(AJUBA):c.569G>C (p.Gly190Ala)	AJUBA (G190A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2309333	NM_032876.6(AJUBA):c.554G>A (p.Gly185Asp)	AJUBA (G185D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235565	NM_032876.6(AJUBA):c.479A>G (p.Asn160Ser)	AJUBA (N160S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412306	NM_032876.6(AJUBA):c.128G>C (p.Gly43Ala)	AJUBA (G43A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360217	NM_032876.6(AJUBA):c.123G>C (p.Leu41Phe)	AJUBA (L41F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227438	NM_032876.6(AJUBA):c.67A>G (p.Ser23Gly)	AJUBA (S23G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564102	GRCh37/hg19 14q11.2(chr14:23240787-23468899)x1	SLC7A7, MMP14 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 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 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 35