Related gene-specific medical variations for Gene (Select 221692) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358522	NM_030948.6(PHACTR1):c.1510-6_1529del	LOC100130357, PHACTR1 +1 more	Deletion (non-coding transcript variant +2 more)	PHACTR1-related disorder	GUncertain significance
Select item 3342636	NM_030948.6(PHACTR1):c.1713T>G (p.Ser571Arg)	LOC100130357, PHACTR1 +1 more (S479R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064903	NM_030948.6(PHACTR1):c.251-39420G>T	PHACTR1 (C20F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 3056707	NM_030948.6(PHACTR1):c.1392-5C>T	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	PHACTR1-related disorder	GLikely benign
Select item 3043407	NM_030948.6(PHACTR1):c.1448-3del	LOC100130357, LOC129995804 +2 more	Deletion (intron variant)	PHACTR1-related disorder	GLikely benign
Select item 3038786	NM_030948.6(PHACTR1):c.*5C>T	LOC100130357, PHACTR1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PHACTR1-related disorder	GBenign
Select item 3036608	NM_030948.6(PHACTR1):c.1451G>A (p.Arg484Gln)	LOC100130357, LOC129995804 +2 more (R392Q +4 more)	Single nucleotide variant (missense variant +1 more)	PHACTR1-related disorder	GUncertain significance
Select item 3035239	NM_030948.6(PHACTR1):c.1623G>A (p.Pro541=)	LOC100130357, PHACTR1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PHACTR1-related disorder	GLikely benign
Select item 3024709	NM_030948.6(PHACTR1):c.1727+24dup	LOC100130357, PHACTR1 +1 more (L493fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2689688	NM_030948.6(PHACTR1):c.1000G>C (p.Val334Leu)	PHACTR1 (V242L +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2656242	NM_030948.6(PHACTR1):c.1636A>T (p.Thr546Ser)	LOC100130357, PHACTR1 +1 more (T454S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2656241	NM_030948.6(PHACTR1):c.1392-4G>A	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2627780	NM_030948.6(PHACTR1):c.1643C>G (p.Ala548Gly)	LOC100130357, PHACTR1 +1 more (A456G +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2596788	NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)	LOC100130357, PHACTR1 +1 more (T632S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434679	NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile)	PHACTR1 (T371I +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434678	NM_030948.6(PHACTR1):c.206C>A (p.Thr69Lys)	PHACTR1 (T69K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434677	NM_030948.6(PHACTR1):c.917_918delinsTT (p.His306Leu)	PHACTR1 (H214L +4 more)	Indel (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2434676	NM_030948.6(PHACTR1):c.1043G>A (p.Gly348Asp)	PHACTR1 (G256D +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2234343	NM_030948.6(PHACTR1):c.1626G>T (p.Trp542Cys)	LOC100130357, PHACTR1 +1 more (W519C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801393	NM_030948.6(PHACTR1):c.1391+978_1391+1218del	PHACTR1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1699256	NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser)	LOC100130357, LOC129995804 +2 more (N393S +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1695149	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	LOC100130357, PHACTR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1690642	NM_030948.3:c.251-63908_415+29843dup	PHACTR1	Duplication	PHACTR1-related neurodevelopmental condition	GLikely pathogenic
Select item 1679588	NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met)	PHACTR1, TBC1D7-LOC100130357 (L374M +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GPathogenic
Select item 1342493	NM_030948.6(PHACTR1):c.163A>G (p.Ile55Val)	PHACTR1 (I55V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1341876	NM_030948.6(PHACTR1):c.1252G>T (p.Val418Phe)	PHACTR1 (V326F +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1341821	NM_030948.6(PHACTR1):c.275C>T (p.Ala92Val)	PHACTR1 (A92V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1341741	NM_030948.6(PHACTR1):c.664+2260T>A	PHACTR1 (L179H +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1184391	NM_030948.6(PHACTR1):c.664+2178C>G	PHACTR1 (P152A +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1184319	NM_030948.6(PHACTR1):c.250+8924C>G	PHACTR1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 996864	NM_030948.6(PHACTR1):c.1393_1447+1del	PHACTR1, TBC1D7-LOC100130357	Deletion (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 978154	NM_030948.6(PHACTR1):c.664+2247C>A	PHACTR1 (Q175K +2 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 687131	GRCh37/hg19 6p24.1(chr6:13211952-13268211)x3	PHACTR1	Copy number gain	not provided	GUncertain significance
Select item 617492	NM_030948.6(PHACTR1):c.1436A>T (p.Asn479Ile)	PHACTR1, TBC1D7-LOC100130357 (N479I +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GPathogenic
Select item 617491	NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro)	LOC100130357, LOC129995804 +2 more (L408P +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GPathogenic
Select item 617490	NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys)	TBC1D7-LOC100130357, LOC100130357 +1 more (R521C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148349	GRCh38/hg38 6p24.1(chr6:12922627-13137423)x1	PHACTR1	Copy number loss	See cases	GUncertain significance

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Items: 37