20990[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 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 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
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 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 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 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 2305708	NM_030948.6(PHACTR1):c.164T>C (p.Ile55Thr)	PHACTR1 (I55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068777	NM_030948.6(PHACTR1):c.190C>G (p.Arg64Gly)	PHACTR1 (R64G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GLikely pathogenic
Select item 2623950	NM_030948.6(PHACTR1):c.191G>T (p.Arg64Leu)	PHACTR1 (R64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656233	NM_030948.6(PHACTR1):c.201C>T (p.Ser67=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2584340	NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)	PHACTR1 (P70R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GLikely pathogenic
Select item 2633348	NM_030948.6(PHACTR1):c.241C>A (p.Leu81Met)	PHACTR1 (L81M)	Single nucleotide variant (missense variant)	PHACTR1-related disorder	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 1289844	NM_030948.6(PHACTR1):c.251-149640A>G	PHACTR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 148349	GRCh38/hg38 6p24.1(chr6:12922627-13137423)x1	PHACTR1	Copy number loss	See cases	GUncertain significance
Select item 1879646	NM_030948.6(PHACTR1):c.251-119685G>A	PHACTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656234	NM_030948.6(PHACTR1):c.251-119552C>T	PHACTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3355379	NM_030948.6(PHACTR1):c.251-39465C>G	PHACTR1 (T5R)	Single nucleotide variant (missense variant +1 more)	PHACTR1-related disorder	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 2571242	NM_030948.6(PHACTR1):c.251-39359G>A	PHACTR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571243	NM_030948.6(PHACTR1):c.251-39358C>A	PHACTR1 (L41M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2656235	NM_030948.6(PHACTR1):c.251-39335G>T	PHACTR1 (E48D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1701496	NM_030948.6(PHACTR1):c.251-39259A>G	PHACTR1 (S74G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341892	NM_030948.6(PHACTR1):c.251-39256A>G	PHACTR1 (N75D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341456	NM_030948.6(PHACTR1):c.259G>A (p.Val87Met)	PHACTR1 (V87M +1 more)	Single nucleotide variant (missense variant +1 more)	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 3030612	NM_030948.6(PHACTR1):c.294C>T (p.Leu98=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related disorder	GLikely benign
Select item 1676009	NM_030948.6(PHACTR1):c.297C>T (p.Val99=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3211924	NM_030948.6(PHACTR1):c.407C>T (p.Thr136Met)	PHACTR1 (T136M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551233	NM_030948.6(PHACTR1):c.407C>G (p.Thr136Arg)	PHACTR1 (T137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233823	NM_030948.6(PHACTR1):c.446G>A (p.Ser149Asn)	PHACTR1 (S149N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519480	NM_030948.6(PHACTR1):c.470G>A (p.Gly157Glu)	PHACTR1 (G157E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026638	NM_030948.6(PHACTR1):c.490G>A (p.Asp164Asn)	PHACTR1 (D164N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063934	NM_030948.6(PHACTR1):c.497-19C>G	PHACTR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2475418	NM_030948.6(PHACTR1):c.515C>G (p.Ser172Cys)	PHACTR1 (S173C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631212	NM_030948.6(PHACTR1):c.521A>C (p.Glu174Ala)	PHACTR1 (E174A +2 more)	Single nucleotide variant (missense variant)	PHACTR1-related disorder	GUncertain significance
Select item 1804839	NM_030948.6(PHACTR1):c.564G>A (p.Gln188=)	PHACTR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3041114	NM_030948.6(PHACTR1):c.664+10C>T	PHACTR1	Single nucleotide variant (intron variant)	PHACTR1-related disorder	GLikely benign
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 3033852	NM_030948.6(PHACTR1):c.664+2189A>C	PHACTR1	Single nucleotide variant (synonymous variant +1 more)	PHACTR1-related disorder	GBenign
Select item 3055638	NM_030948.6(PHACTR1):c.664+2241G>T	PHACTR1 (V173L +2 more)	Single nucleotide variant (missense variant +1 more)	PHACTR1-related disorder	GBenign
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 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 3038716	NM_030948.6(PHACTR1):c.717G>A (p.Pro239=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related disorder	GLikely benign
Select item 2656236	NM_030948.6(PHACTR1):c.717G>T (p.Pro239=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2583034	NM_030948.6(PHACTR1):c.750C>T (p.Pro250=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306052	NM_030948.6(PHACTR1):c.755G>T (p.Gly252Val)	PHACTR1 (G229V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211925	NM_030948.6(PHACTR1):c.778T>C (p.Ser260Pro)	PHACTR1 (S329P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695148	NM_030948.6(PHACTR1):c.829A>G (p.Thr277Ala)	PHACTR1 (T185A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057182	NM_030948.6(PHACTR1):c.840C>T (p.Pro280=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related disorder	GLikely benign
Select item 2409740	NM_030948.6(PHACTR1):c.868G>A (p.Gly290Ser)	PHACTR1 (G198S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060495	NM_030948.6(PHACTR1):c.900C>T (p.Thr300=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related disorder	GBenign
Select item 3306053	NM_030948.6(PHACTR1):c.901G>A (p.Gly301Ser)	PHACTR1 (G209S +4 more)	Single nucleotide variant (missense variant)	not specified	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 2434680	NM_030948.6(PHACTR1):c.920C>T (p.Pro307Leu)	PHACTR1 (P215L +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3233970	NM_030948.6(PHACTR1):c.942C>A (p.Asp314Glu)	PHACTR1 (D222E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538117	NM_030948.6(PHACTR1):c.964A>G (p.Met322Val)	PHACTR1 (M392V +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70 +1 more	GUncertain significance
Select item 3356368	NM_030948.6(PHACTR1):c.967A>G (p.Thr323Ala)	PHACTR1 (T231A +4 more)	Single nucleotide variant (missense variant)	PHACTR1-related disorder	GUncertain significance
Select item 2656237	NM_030948.6(PHACTR1):c.975G>A (p.Gln325=)	PHACTR1	Single nucleotide variant (synonymous variant)	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 984620	NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe)	PHACTR1 (V242F +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 2279629	NM_030948.6(PHACTR1):c.1028C>G (p.Ser343Cys)	PHACTR1 (S412C +4 more)	Single nucleotide variant (missense variant)	not specified	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 1299016	NM_030948.6(PHACTR1):c.1095G>T (p.Val365=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175737	NM_030948.6(PHACTR1):c.1101T>G (p.Thr367=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656238	NM_030948.6(PHACTR1):c.1155C>T (p.Tyr385=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042778	NM_030948.6(PHACTR1):c.1206C>T (p.Asp402=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related disorder	GLikely benign
Select item 2406801	NM_030948.6(PHACTR1):c.1207G>A (p.Glu403Lys)	PHACTR1 (E380K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656239	NM_030948.6(PHACTR1):c.1212C>T (p.Asp404=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049490	NM_030948.6(PHACTR1):c.1215C>T (p.Asp405=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related disorder	GLikely benign
Select item 3342780	NM_030948.6(PHACTR1):c.1235-1G>C	PHACTR1	Single nucleotide variant (splice acceptor variant)	not provided	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 983134	NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser)	PHACTR1 (C327S +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GLikely benign
Select item 3234457	NM_030948.6(PHACTR1):c.1260G>A (p.Arg420=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704279	NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met)	PHACTR1 (I334M +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 70	GLikely pathogenic
Select item 2635484	NM_030948.6(PHACTR1):c.1300A>G (p.Lys434Glu)	PHACTR1 (K342E +4 more)	Single nucleotide variant (missense variant)	PHACTR1-related disorder	GUncertain significance
Select item 2656240	NM_030948.6(PHACTR1):c.1335G>A (p.Arg445=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1801393	NM_030948.6(PHACTR1):c.1391+978_1391+1218del	PHACTR1	Deletion (intron variant)	Schizophrenia	GUncertain significance
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 3341995	NM_030948.6(PHACTR1):c.1392-19812A>T	PHACTR1	Single nucleotide variant (stop lost +1 more)	not provided	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 2656241	NM_030948.6(PHACTR1):c.1392-4G>A	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 3043407	NM_030948.6(PHACTR1):c.1448-3del	LOC100130357, LOC129995804 +2 more	Deletion (intron variant)	PHACTR1-related disorder	GLikely benign
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 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 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 1695149	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	LOC100130357, PHACTR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
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

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