Related gene-specific medical variations for Gene (Select 23241) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361102	NM_001100913.3(PACS2):c.833A>G (p.His278Arg)	PACS2 (H203R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361018	NM_001100913.3(PACS2):c.1885A>C (p.Ser629Arg)	PACS2 (S550R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359988	NC_000014.9:g.105300526T>C	PACS2 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359972	NM_001100913.3(PACS2):c.769G>A (p.Ala257Thr)	PACS2 (A182T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359345	NM_001100913.3(PACS2):c.1348C>T (p.Arg450Trp)	PACS2 (R375W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244069	NC_000014.8:g.(?_105833530)_(105861009_?)dup	PACS2	Duplication	not provided	GUncertain significance
Select item 3005989	NM_001100913.3(PACS2):c.29C>T (p.Pro10Leu)	BRF1, PACS2 (P10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974283	NM_001100913.3(PACS2):c.40_48dup (p.Leu16_Asn17insGlyAlaLeu)	BRF1, PACS2	Duplication (intron variant)	not provided	GUncertain significance
Select item 2866459	NM_001100913.3(PACS2):c.106A>T (p.Ser36Cys)	PACS2, LOC130056677 +1 more (S36C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2843058	NM_001100913.3(PACS2):c.119+8C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837499	NM_001100913.3(PACS2):c.36G>A (p.Ala12=)	BRF1, PACS2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2815133	NM_001100913.3(PACS2):c.104C>G (p.Pro35Arg)	BRF1, LOC130056677 +1 more (P35R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770810	NM_001100913.3(PACS2):c.29CCGGCGCGC[1] (p.10PGA[1])	BRF1, PACS2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2767356	NM_001100913.3(PACS2):c.75C>T (p.Phe25=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2753153	NM_001100913.3(PACS2):c.45G>C (p.Ala15=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749544	NM_001100913.3(PACS2):c.94G>A (p.Gly32Ser)	BRF1, LOC130056677 +1 more (G32S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2689649	NM_001100913.3(PACS2):c.1237A>G (p.Lys413Glu)	PACS2 (K338E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2570893	NM_001100913.3(PACS2):c.37C>G (p.Pro13Ala)	BRF1, PACS2 (P13A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2534379	NM_001100913.3(PACS2):c.41G>C (p.Gly14Ala)	BRF1, PACS2 (G14A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534378	NM_001100913.3(PACS2):c.28C>G (p.Pro10Ala)	BRF1, PACS2 (P10A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442062	NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)	PACS2 (A376T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434564	NM_001100913.3(PACS2):c.2098G>A (p.Glu700Lys)	PACS2 (E610K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434562	NM_001100913.3(PACS2):c.368A>C (p.Asn123Thr)	PACS2 (N123T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434560	NM_001100913.3(PACS2):c.1927C>T (p.Gln643Ter)	PACS2 (Q564* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434558	NM_001100913.3(PACS2):c.371G>T (p.Arg124Ile)	PACS2 (R124I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434557	NM_001100913.3(PACS2):c.1541G>A (p.Arg514Lys)	PACS2 (R435K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434556	NM_001100913.3(PACS2):c.1454T>A (p.Leu485His)	PACS2 (L406H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2423702	NC_000014.8:g.(?_105781256)_(105781394_?)dup	BRF1, PACS2	Duplication	not provided	GUncertain significance
Select item 2423701	NC_000014.8:g.(?_105781256)_(105781394_?)del	BRF1, PACS2	Deletion	not provided	GUncertain significance
Select item 2302770	NM_001100913.3(PACS2):c.75C>G (p.Phe25Leu)	BRF1, LOC130056677 +1 more (F25L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2185885	NM_001100913.3(PACS2):c.38C>T (p.Pro13Leu)	BRF1, PACS2 (P13L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172522	NM_001100913.3(PACS2):c.72G>C (p.Leu24=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168805	NM_001100913.3(PACS2):c.45G>A (p.Ala15=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130182	NM_001100913.3(PACS2):c.119+7G>C	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126565	NM_001100913.3(PACS2):c.119+4C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2111127	NM_001100913.3(PACS2):c.112G>C (p.Val38Leu)	BRF1, LOC130056677 +1 more (V38L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093881	NM_001100913.3(PACS2):c.119+10del	BRF1, LOC130056677 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 2056588	NM_001100913.3(PACS2):c.60G>A (p.Val20=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040828	NM_001100913.3(PACS2):c.36G>T (p.Ala12=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040827	NM_001100913.3(PACS2):c.12A>G (p.Arg4=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2032426	NM_001100913.3(PACS2):c.102C>T (p.Ser34=)	LOC130056677, PACS2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2014760	NM_001100913.3(PACS2):c.80C>T (p.Thr27Ile)	PACS2, BRF1 +1 more (T27I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013078	NM_001100913.3(PACS2):c.119+7G>A	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009557	NM_001100913.3(PACS2):c.33C>A (p.Gly11=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1998591	NM_001100913.3(PACS2):c.25_33dup (p.Gly11_Ala12insLeuProGly)	BRF1, PACS2	Duplication (intron variant)	not provided	GUncertain significance
Select item 1976053	NM_001100913.3(PACS2):c.31G>A (p.Gly11Ser)	BRF1, PACS2 (G11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949382	NM_001100913.3(PACS2):c.41_58dup (p.Pro19_Val20insGlyAlaLeuAsnThrPro)	BRF1, PACS2	Duplication (intron variant)	not provided	GUncertain significance
Select item 1940200	NM_001100913.3(PACS2):c.65T>C (p.Met22Thr)	BRF1, LOC130056677 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928806	NM_001100913.3(PACS2):c.49A>T (p.Asn17Tyr)	BRF1, PACS2 (N17Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718776	NM_001100913.3(PACS2):c.17G>C (p.Arg6Pro)	BRF1, PACS2 (R6P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717818	NM_001100913.3(PACS2):c.20T>G (p.Leu7Arg)	PACS2, BRF1 (L7R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674617	NM_001100913.3(PACS2):c.29CCGGCGCGC[3] (p.Ala15_Leu16insProGlyAla)	BRF1, PACS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1673644	NM_001100913.3(PACS2):c.79A>G (p.Thr27Ala)	PACS2, BRF1 +1 more (T27A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1647179	NM_001100913.3(PACS2):c.57C>T (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1638026	NM_001100913.3(PACS2):c.57C>G (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1631591	NM_001100913.3(PACS2):c.21C>A (p.Leu7=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600317	NM_001100913.3(PACS2):c.33C>T (p.Gly11=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1556914	NM_001100913.3(PACS2):c.44C>T (p.Ala15Val)	PACS2, BRF1 (A15V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1542589	NM_001100913.3(PACS2):c.21C>T (p.Leu7=)	PACS2, BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1541643	NM_001100913.3(PACS2):c.119+17G>A	LOC130056677, PACS2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535271	NM_001100913.3(PACS2):c.70C>T (p.Leu24=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522559	NM_001100913.3(PACS2):c.17G>T (p.Arg6Leu)	BRF1, PACS2 (R6L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1495442	NM_001100913.3(PACS2):c.83G>A (p.Trp28Ter)	BRF1, LOC130056677 +1 more (W28*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1491455	NM_001100913.3(PACS2):c.57C>A (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1441469	NM_001100913.3(PACS2):c.7G>C (p.Glu3Gln)	BRF1, PACS2 (E3Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance
Select item 1402365	NM_001100913.3(PACS2):c.37C>T (p.Pro13Ser)	BRF1, PACS2 (P13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388202	NM_001100913.3(PACS2):c.25_33del (p.Leu9_Gly11del)	BRF1, PACS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1373831	NM_001100913.3(PACS2):c.25C>T (p.Leu9Phe)	PACS2, BRF1 (L9F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367519	NM_001100913.3(PACS2):c.119+6C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1365709	NM_001100913.3(PACS2):c.103C>A (p.Pro35Thr)	BRF1, LOC130056677 +1 more (P35T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355779	NM_001100913.3(PACS2):c.47T>C (p.Leu16Pro)	BRF1, PACS2 (L16P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326531	NM_001100913.3(PACS2):c.85G>A (p.Glu29Lys)	BRF1, LOC130056677 +1 more (E29K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1289061	NM_001243127.3(PACS2):c.-83+13198G>A	BRF1, LOC130056675 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272011	NM_015197.3(PACS2):c.-375T>C	BRF1, LOC130056676 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251079	NM_001243127.3(PACS2):c.-83+13338A>G	PACS2, LOC130056676 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246245	NM_001243127.3(PACS2):c.-83+13228C>A	BRF1, PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241100	NM_001243127.3(PACS2):c.-83+13248G>A	BRF1, PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184372	NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile)	PACS2 (V665I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 1098672	NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg)	PACS2 (P682R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 1029076	NM_001100913.3(PACS2):c.58G>A (p.Val20Met)	BRF1, LOC130056677 +1 more (V20M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 931044	NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr)	PACS2 (S740T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930460	NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)	PACS2 (D386N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 82