ClinVar for Gene (Select 100130357) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377117	NM_030948.6(PHACTR1):c.1555C>G (p.Leu519Val)	LOC100130357, PHACTR1 +1 more (L427V +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
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 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 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 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 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 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)	TBC1D7-LOC100130357, LOC100130357 +1 more (R521C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27