"PCDH19-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206287	NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser)	PCDH19 (G1092S +2 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +2 more	GLikely benign
Select item 465305	NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser)	PCDH19 (P1138S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 93674	NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)	PCDH19 (P1079A +2 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +4 more	GBenign/Likely benign
Select item 206285	NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)	PCDH19 (I1043F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +2 more	GConflicting classifications of pathogenicity
Select item 285391	NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +2 more	GConflicting classifications of pathogenicity
Select item 653997	NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +2 more	GLikely benign
Select item 206362	NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)	PCDH19 (R911Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 138601	NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)	PCDH19	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1501914	NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile)	PCDH19 (T882I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 856452	NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)	LOC125467768, PCDH19 (F853L +1 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +1 more	GUncertain significance
Select item 856523	NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser)	LOC125467768, PCDH19 (N792S +1 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +1 more	GUncertain significance
Select item 206301	NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly)	PCDH19 (V675G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +3 more	GLikely benign
Select item 3047503	NM_001184880.2(PCDH19):c.1878C>A (p.Thr626=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder	GLikely benign
Select item 2632762	NM_001184880.2(PCDH19):c.1729A>G (p.Ile577Val)	PCDH19 (I577V)	Single nucleotide variant (missense variant)	PCDH19-related disorder	GUncertain significance
Select item 515827	NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg)	PCDH19 (P567R)	Single nucleotide variant (missense variant)	PCDH19-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 387538	NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder +2 more	GLikely benign
Select item 423936	NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met)	PCDH19 (V493M)	Single nucleotide variant (missense variant)	PCDH19-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 379558	NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder +3 more	GBenign/Likely benign
Select item 206295	NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)	PCDH19 (M432V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +4 more	GBenign/Likely benign
Select item 3032816	NM_001184880.2(PCDH19):c.1044G>A (p.Leu348=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder	GLikely benign
Select item 193196	NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)	PCDH19 (V257L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138597	NM_001184880.2(PCDH19):c.717C>T (p.Ser239=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder +3 more	GBenign/Likely benign
Select item 93678	NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder +3 more	GBenign/Likely benign
Select item 695577	NM_001184880.2(PCDH19):c.39C>T (p.Ala13=)	PCDH19	Single nucleotide variant (synonymous variant)	PCDH19-related disorder +3 more	GLikely benign

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Items: 24