"GeneDx"[submitter] AND "PACS2"[gene] - ClinVar

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Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 1289061	NM_001243127.3(PACS2):c.-83+13198G>A	PACS2, BRF1 +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 1251079	NM_001243127.3(PACS2):c.-83+13338A>G	BRF1, LOC130056676 +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 1326531	NM_001100913.3(PACS2):c.85G>A (p.Glu29Lys)	LOC130056677, PACS2 +1 more (E29K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700857	NM_001100913.3(PACS2):c.199A>G (p.Lys67Glu)	PACS2 (K67E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1251695	NM_001100913.3(PACS2):c.297+126del	PACS2	Deletion (intron variant)	not provided	GBenign
Select item 1278642	NM_001100913.3(PACS2):c.298-183T>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182121	NM_001100913.3(PACS2):c.298-120G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262606	NM_001100913.3(PACS2):c.298-47T>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444548	NM_001100913.3(PACS2):c.341T>C (p.Met114Thr)	PACS2 (M114T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376093	NM_001100913.3(PACS2):c.412A>G (p.Ser138Gly)	PACS2 (S138G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229476	NM_001100913.3(PACS2):c.423+165C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272649	NM_001100913.3(PACS2):c.423+203C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271804	NM_001100913.3(PACS2):c.424-223G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253692	NM_001100913.3(PACS2):c.461G>T (p.Ser154Ile)	PACS2 (S154I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768683	NM_001100913.3(PACS2):c.489C>T (p.Pro163=)	PACS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1557903	NM_001100913.3(PACS2):c.527G>A (p.Ser176Asn)	PACS2 (S109N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1294913	NM_001100913.3(PACS2):c.553A>G (p.Thr185Ala)	PACS2 (T118A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1695742	NM_001100913.3(PACS2):c.566_567del (p.Gly189fs)	PACS2 (G122fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1181138	NM_001100913.3(PACS2):c.587-122C>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581901	NM_001100913.3(PACS2):c.605A>T (p.Glu202Val)	PACS2 (E135V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315227	NM_001100913.3(PACS2):c.623C>T (p.Ser208Phe)	PACS2 (S141F +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 495141	NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	PACS2 (E209K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 807184	NM_001100913.3(PACS2):c.631G>A (p.Glu211Lys)	PACS2 (E144K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2434563	NM_001100913.3(PACS2):c.643G>A (p.Asp215Asn)	PACS2 (D148N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1289796	NM_001100913.3(PACS2):c.661-49A>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368647	NM_001100913.3(PACS2):c.661-1G>A	PACS2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1329697	NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg)	PACS2 (T242R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1242216	NM_001100913.3(PACS2):c.742-37T>C	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226983	NM_001100913.3(PACS2):c.802-160G>C	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243700	NM_001100913.3(PACS2):c.802-124T>C	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265291	NM_001100913.3(PACS2):c.802-46A>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283716	NM_001100913.3(PACS2):c.876C>G (p.Thr292=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1282896	NM_001100913.3(PACS2):c.959+17G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265443	NM_001100913.3(PACS2):c.959+34C>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252128	NM_001100913.3(PACS2):c.960-188A>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1810540	NM_001100913.3(PACS2):c.986C>G (p.Ser329Trp)	PACS2 (S254W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1179932	NM_001100913.3(PACS2):c.1125+12T>C	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700756	NM_001100913.3(PACS2):c.1291C>T (p.Arg431Ter)	PACS2 (R356* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1233534	NM_001100913.3(PACS2):c.1413+22C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260864	NM_001100913.3(PACS2):c.1491T>C (p.Leu497=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2571853	NM_001100913.3(PACS2):c.1522C>T (p.Leu508Phe)	PACS2 (L429F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175470	NM_001100913.3(PACS2):c.1626-139C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230154	NM_001100913.3(PACS2):c.1626-24G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274390	NM_001100913.3(PACS2):c.1780+98G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241152	NM_001100913.3(PACS2):c.1780+101G>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247917	NM_001100913.3(PACS2):c.1780+195A>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708774	NM_001100913.3(PACS2):c.1891G>A (p.Val631Ile)	PACS2 (V552I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259056	NM_001100913.3(PACS2):c.1891+51C>A	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342411	NM_001100913.3(PACS2):c.1906G>T (p.Asp636Tyr)	PACS2 (D557Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434560	NM_001100913.3(PACS2):c.1927C>T (p.Gln643Ter)	PACS2 (Q564* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1178881	NM_001100913.3(PACS2):c.2000+50A>G	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2442480	NM_001100913.3(PACS2):c.2033+1G>A	PACS2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3371349	NM_001100913.3(PACS2):c.2039A>G (p.Asp680Gly)	PACS2 (D590G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224811	NM_001100913.3(PACS2):c.2119+90T>C	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1486453	NM_001100913.3(PACS2):c.2127_2162del (p.Asp710_Ser721del)	PACS2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3343369	NM_001100913.3(PACS2):c.2142dup (p.Ser715fs)	PACS2 (S625fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1239014	NM_001100913.3(PACS2):c.2174C>T (p.Pro725Leu)	PACS2 (P635L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2442763	NM_001100913.3(PACS2):c.2472G>T (p.Lys824Asn)	PACS2 (K734N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577592	NM_001100913.3(PACS2):c.2576A>G (p.Gln859Arg)	PACS2 (Q769R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287722	NM_001100913.3(PACS2):c.2596+238C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278143	NM_001100913.3(PACS2):c.2597-33G>T	PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663142	NM_001100913.3(PACS2):c.2625C>A (p.Asp875Glu)	PACS2 (D785E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254021	GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	TEDC1, CDCA4 +14 more	Copy number loss	See cases	GUncertain significance
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

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Items: 75