Related gene-specific medical variations for Gene (Select 100130357) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043407	NM_030948.6(PHACTR1):c.1448-3del	LOC100130357, LOC129995804 +2 more	Deletion (intron variant)	PHACTR1-related condition	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 condition	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 condition	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 condition	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 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	GUncertain significance
Select item 2627780	NM_030948.6(PHACTR1):c.1643C>G (p.Ala548Gly)	TBC1D7-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)	PHACTR1, TBC1D7-LOC100130357 +1 more (T632S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234343	NM_030948.6(PHACTR1):c.1626G>T (p.Trp542Cys)	PHACTR1, TBC1D7-LOC100130357 +1 more (W519C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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)	LOC100130357, PHACTR1 +1 more (R521C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance