GPATCH2L[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	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 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 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 2260237	NM_017926.4(GPATCH2L):c.261C>G (p.Asp87Glu)	GPATCH2L (D87E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307001	NM_017926.4(GPATCH2L):c.422C>T (p.Ala141Val)	GPATCH2L (A141V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510378	NM_017926.4(GPATCH2L):c.552G>T (p.Leu184Phe)	GPATCH2L (L184F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479774	NM_017926.4(GPATCH2L):c.710A>G (p.Asn237Ser)	GPATCH2L (N237S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233157	NM_017926.4(GPATCH2L):c.911A>G (p.His304Arg)	GPATCH2L (H304R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2644377	NM_017926.4(GPATCH2L):c.1053-65C>T	GPATCH2L (R362*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2206499	NM_017926.4(GPATCH2L):c.1163G>A (p.Arg388Gln)	GPATCH2L (R383Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549665	NM_017926.4(GPATCH2L):c.1196A>G (p.Gln399Arg)	GPATCH2L (Q399R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294665	NM_017926.4(GPATCH2L):c.1210T>C (p.Trp404Arg)	GPATCH2L (W404R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261820	NM_017926.4(GPATCH2L):c.1258G>A (p.Ala420Thr)	GPATCH2L (A415T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614995	NM_017926.4(GPATCH2L):c.1318C>T (p.Pro440Ser)	GPATCH2L (P435S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601375	NM_017926.4(GPATCH2L):c.1334C>G (p.Pro445Arg)	GPATCH2L (P440R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344014	NM_017926.4(GPATCH2L):c.1337A>G (p.Lys446Arg)	GPATCH2L (K441R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325525	NM_017926.4(GPATCH2L):c.1444A>G (p.Ser482Gly)	GPATCH2L (S477G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
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 442175	GRCh37/hg19 14q24.3(chr14:76339283-77061858)x4	ESRRB, GPATCH2L +3 more	Copy number gain	See cases	GUncertain significance
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
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

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Items: 31