Related gene-specific medical variations for Gene (Select 55690) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244671	NC_000011.9:g.(?_65983570)_(66010751_?)del	PACS1	Deletion	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 3030463	NM_018026.4(PACS1):c.-2C>T	LOC130006098, PACS1	Single nucleotide variant (5 prime UTR variant)	PACS1-related disorder	GLikely benign
Select item 2689648	NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)	PACS1 (S770C)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2665049	NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)	PACS1 (E697Q)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2620598	NM_018026.4(PACS1):c.262G>A (p.Gly88Ser)	LOC130006099, PACS1 (G88S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576082	NM_018026.4(PACS1):c.440T>G (p.Leu147Arg)	PACS1 (L147R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479261	NM_018026.4(PACS1):c.228G>A (p.Met76Ile)	LOC130006099, PACS1 (M76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446286	NM_018026.4(PACS1):c.248G>T (p.Gly83Val)	LOC130006099, PACS1 (G83V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434555	NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)	PACS1 (A229T)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2434554	NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)	PACS1 (S423R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2434553	NM_018026.4(PACS1):c.286C>T (p.Pro96Ser)	LOC130006099, PACS1 (P96S)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2434552	NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)	PACS1 (L458V)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 1802617	NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)	LOC130006099, PACS1 (Q100*)	Single nucleotide variant (nonsense)	Schuurs-Hoeijmakers syndrome	GLikely pathogenic
Select item 1801458	NM_018026.4(PACS1):c.2430-649_2430-648insCTTTCTTTGGTTTGTTTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGGAAGTGCAGTGGCGGCGATCTCGGGCTCACTGCAAGCTCCGCCTCCCGGGTGTTCACGCCATTCTCCGCCTCAGCCATCCAAAGTAGAGCGGACTAAGGCGCCGCCACTACGCCCGAGCTAATTTTTTTGTATTTTTAGTTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATACTCCTGACTCGTGATCCGCCCGCCTGCCTCCCAAAGTGCTGGAGGATTTACAGCGGGCCACCGCTGCCCGGCCTAA	PACS1	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1800860	NM_018026.4(PACS1):c.221C>T (p.Thr74Ile)	LOC130006099, PACS1 (T74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1788394	NM_018026.4(PACS1):c.224C>T (p.Ser75Phe)	LOC130006099, PACS1 (S75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787548	NM_018026.4(PACS1):c.219C>T (p.Ser73=)	LOC130006099, PACS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1731347	NM_018026.4(PACS1):c.342C>T (p.Ser114=)	LOC130006100, PACS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1676552	NM_018026.4(PACS1):c.2381C>G (p.Ala794Gly)	PACS1 (A794G)	Single nucleotide variant	not provided	GUncertain significance
Select item 1341806	NM_018026.4(PACS1):c.65G>A (p.Gly22Glu)	PACS1 (G22E)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 1336825	NM_018026.4(PACS1):c.206C>T (p.Ser69Phe)	LOC130006099, PACS1 (S69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1300613	NM_018026.4(PACS1):c.234G>C (p.Val78=)	LOC130006099, PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1286963	NM_018026.4(PACS1):c.356+30G>A	LOC130006100, PACS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245531	NM_018026.4(PACS1):c.246_251del (p.Gly83_Ser84del)	LOC130006099, PACS1	Deletion (inframe_deletion)	not provided +1 more	GBenign
Select item 1202806	NM_018026.4(PACS1):c.356+25G>A	LOC130006100, PACS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191816	NM_018026.4(PACS1):c.246G>A (p.Ser82=)	LOC130006099, PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975461	NM_018026.4(PACS1):c.416A>C (p.Asn139Thr)	PACS1 (N139T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975458	NM_018026.4(PACS1):c.1341C>A (p.Asn447Lys)	PACS1 (N447K)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 588949	NM_018026.4(PACS1):c.348C>T (p.Cys116=)	LOC130006100, PACS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588946	NM_018026.4(PACS1):c.21G>A (p.Ala7=)	LOC130006098, PACS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588014	NM_018026.4(PACS1):c.215C>T (p.Thr72Ile)	LOC130006099, PACS1 (T72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Links from Gene

Items: 31