"GeneDx"[submitter] AND "LOC125467768"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 57970	GRCh38/hg38 Xq21.33-22.1(chrX:97610521-100562572)x1	LINC03077, LOC125467768 +2 more	Copy number loss	See cases	GPathogenic
Select item 506928	NM_001184880.2(PCDH19):c.2616+19C>T	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512704	NM_001184880.2(PCDH19):c.2616+13A>T	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 516359	NM_001184880.2(PCDH19):c.2607T>C (p.Pro869=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 516431	NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +1 more	GLikely benign
Select item 206303	NM_001184880.2(PCDH19):c.2588T>G (p.Leu863Arg)	LOC125467768, PCDH19 (L816R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 206347	NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn)	LOC125467768, PCDH19 (S808N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206302	NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His)	LOC125467768, PCDH19 (R794H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1311886	NM_001184880.2(PCDH19):c.2507A>T (p.Glu836Val)	LOC125467768, PCDH19 (E789V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422860	NM_001184880.2(PCDH19):c.2501dup (p.Asn834fs)	LOC125467768, PCDH19 (N787fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 849896	NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)	LOC125467768, PCDH19 (N834S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GConflicting classifications of pathogenicity
Select item 196321	NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2503115	NM_001184880.2(PCDH19):c.2495T>C (p.Phe832Ser)	LOC125467768, PCDH19 (F785S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93673	NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +3 more	GBenign/Likely benign
Select item 515269	NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 206360	NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)	LOC125467768, PCDH19 (N753fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9 +1 more	GPathogenic
Select item 206370	NM_001184880.2(PCDH19):c.2384del (p.Glu795fs)	LOC125467768, PCDH19 (E795fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 378325	NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 408902	NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)	LOC125467768, PCDH19 (I734fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 206345	NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn)	LOC125467768, PCDH19 (K726N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GConflicting classifications of pathogenicity
Select item 392739	NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 206342	NM_001184880.2(PCDH19):c.2289-11C>G	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1187694	NM_001184880.2(PCDH19):c.2288+145_2288+147del	LOC125467768, PCDH19	Deletion (intron variant)	not provided	GLikely benign
Select item 383108	NM_001184880.2(PCDH19):c.2288+9G>T	LOC125467768, PCDH19	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2571796	NM_001184880.2(PCDH19):c.2275C>A (p.Leu759Ile)	LOC125467768, PCDH19 (L759I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366293	NM_001184880.2(PCDH19):c.2261_2262del (p.Glu754fs)	LOC125467768, PCDH19 (E754fs)	Microsatellite (frameshift variant +1 more)	Complex cortical dysplasia with other brain malformations 7 +1 more	GConflicting classifications of pathogenicity

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Items: 28