ClinVar for Gene (Select 55690) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 810

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369789	NM_018026.4(PACS1):c.2561G>A (p.Arg854His)	PACS1 (R854H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369785	NM_018026.4(PACS1):c.1038G>A (p.Glu346=)	PACS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3369628	NM_018026.4(PACS1):c.959C>T (p.Ser320Leu)	PACS1 (S320L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368889	NM_018026.4(PACS1):c.2566G>T (p.Val856Leu)	PACS1 (V856L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368369	NM_018026.4(PACS1):c.1990C>T (p.Leu664Phe)	PACS1 (L664F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365655	NM_018026.4(PACS1):c.397G>A (p.Glu133Lys)	PACS1 (E133K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363938	NM_018026.4(PACS1):c.67T>G (p.Ser23Ala)	PACS1 (S23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362495	NM_018026.4(PACS1):c.1978C>T (p.Leu660Phe)	PACS1 (L660F)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 3361943	NM_018026.4(PACS1):c.2105-2A>G	PACS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3361800	NM_018026.4(PACS1):c.1058A>G (p.His353Arg)	PACS1 (H353R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361191	NM_018026.4(PACS1):c.660+1G>A	PACS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3360674	NM_018026.4(PACS1):c.541C>A (p.His181Asn)	PACS1 (H181N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351949	NM_018026.4(PACS1):c.171C>G (p.Ser57=)	PACS1	Single nucleotide variant (synonymous variant)	PACS1-related disorder	GLikely benign
Select item 3343693	NM_018026.4(PACS1):c.2864_2876del (p.Gly955fs)	PACS1 (G955fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3343576	NM_018026.4(PACS1):c.158C>T (p.Ala53Val)	PACS1 (A53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343330	NM_018026.4(PACS1):c.1873A>C (p.Lys625Gln)	PACS1 (K625Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339952	NM_018026.4(PACS1):c.2811G>A (p.Lys937=)	PACS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339173	NM_018026.4(PACS1):c.1993+12A>T	PACS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3303888	NM_018026.4(PACS1):c.1390G>T (p.Asp464Tyr)	PACS1 (D464Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303887	NM_018026.4(PACS1):c.2720T>C (p.Ile907Thr)	PACS1 (I907T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303886	NM_018026.4(PACS1):c.2392T>A (p.Ser798Thr)	PACS1 (S798T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255503	NM_018026.4(PACS1):c.838GAAGAG[3] (p.Glu283_Ser284insGluGlu)	PACS1	Microsatellite (inframe_insertion)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 3252803	NM_018026.4(PACS1):c.535-1del	PACS1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 3252127	NM_018026.4(PACS1):c.1741G>A (p.Glu581Lys)	PACS1 (E581K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251085	NM_018026.4(PACS1):c.2428G>C (p.Gly810Arg)	PACS1 (G810R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244671	NC_000011.9:g.(?_65983570)_(66010751_?)del	PACS1	Deletion	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 3207898	NM_018026.4(PACS1):c.685G>T (p.Ala229Ser)	PACS1 (A229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3207896	NM_018026.4(PACS1):c.416A>T (p.Asn139Ile)	PACS1 (N139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207895	NM_018026.4(PACS1):c.314C>G (p.Ala105Gly)	PACS1 (A105G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207894	NM_018026.4(PACS1):c.1909T>G (p.Ser637Ala)	PACS1 (S637A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207893	NM_018026.4(PACS1):c.1909T>C (p.Ser637Pro)	PACS1 (S637P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207892	NM_018026.4(PACS1):c.1903C>G (p.Leu635Val)	PACS1 (L635V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207891	NM_018026.4(PACS1):c.170C>T (p.Ser57Phe)	PACS1 (S57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3207890	NM_018026.4(PACS1):c.1366G>C (p.Asp456His)	PACS1 (D456H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060801	NM_018026.4(PACS1):c.104AGC[5] (p.Gln40del)	PACS1 (Q40del)	Microsatellite	PACS1-related disorder	GLikely benign
Select item 3055286	NM_018026.4(PACS1):c.713T>C (p.Val238Ala)	PACS1 (V238A)	Single nucleotide variant (missense variant)	PACS1-related disorder	GUncertain significance
Select item 3051557	NM_018026.4(PACS1):c.491G>A (p.Ser164Asn)	PACS1 (S164N)	Single nucleotide variant (missense variant)	PACS1-related disorder	GUncertain significance
Select item 3047793	NM_018026.4(PACS1):c.1423G>A (p.Val475Met)	PACS1 (V475M)	Single nucleotide variant (missense variant)	PACS1-related disorder	GLikely benign
Select item 3046784	NM_018026.4(PACS1):c.101_127del (p.Pro34_Pro42del)	PACS1	Deletion	PACS1-related disorder	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 3027347	NM_018026.4(PACS1):c.2381C>T (p.Ala794Val)	PACS1 (A794V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027320	NM_018026.4(PACS1):c.2220C>T (p.Asp740=)	PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023706	NM_018026.4(PACS1):c.1439A>G (p.Lys480Arg)	PACS1 (K480R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 3019420	NM_018026.4(PACS1):c.2363T>C (p.Leu788Pro)	PACS1 (L788P)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 3016700	NM_018026.4(PACS1):c.1885G>A (p.Val629Met)	PACS1 (V629M)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2990117	NM_018026.4(PACS1):c.956C>T (p.Thr319Ile)	PACS1 (T319I)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2972958	NM_018026.4(PACS1):c.444+19T>C	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2965891	NM_018026.4(PACS1):c.978+1G>A	PACS1	Single nucleotide variant (splice donor variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2959274	NM_018026.4(PACS1):c.1789G>A (p.Val597Met)	PACS1 (V597M)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2920191	NM_018026.4(PACS1):c.1293+7G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2918200	NM_018026.4(PACS1):c.2145C>G (p.Asn715Lys)	PACS1 (N715K)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2917574	NM_018026.4(PACS1):c.2631G>C (p.Val877=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2917253	NM_018026.4(PACS1):c.1627-19C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2916935	NM_018026.4(PACS1):c.1374+11del	PACS1	Deletion (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2915464	NM_018026.4(PACS1):c.2609C>T (p.Ser870Phe)	PACS1 (S870F)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2915178	NM_018026.4(PACS1):c.978+18G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2913966	NM_018026.4(PACS1):c.805+12G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2912975	NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)	PACS1 (T488M)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2909439	NM_018026.4(PACS1):c.2364G>C (p.Leu788=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2905949	NM_018026.4(PACS1):c.2251-6T>C	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2905022	NM_018026.4(PACS1):c.1375-9C>G	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2904597	NM_018026.4(PACS1):c.898-18G>C	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2903972	NM_018026.4(PACS1):c.2112G>A (p.Leu704=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2903300	NM_018026.4(PACS1):c.2071G>T (p.Asp691Tyr)	PACS1 (D691Y)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2900918	NM_018026.4(PACS1):c.1491-3C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2896502	NM_018026.4(PACS1):c.2400A>G (p.Pro800=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2894119	NM_018026.4(PACS1):c.2251-17C>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2893223	NM_018026.4(PACS1):c.2145C>T (p.Asn715=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome +1 more	GLikely benign
Select item 2892799	NM_018026.4(PACS1):c.2259G>A (p.Lys753=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2892306	NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)	PACS1 (M406I)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2892037	NM_018026.4(PACS1):c.1993+9G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2890737	NM_018026.4(PACS1):c.710A>G (p.Asn237Ser)	PACS1 (N237S)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2887635	NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)	PACS1 (G832R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2884420	NM_018026.4(PACS1):c.1644G>A (p.Val548=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2880514	NM_018026.4(PACS1):c.1491-15C>G	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2877179	NM_018026.4(PACS1):c.1532C>T (p.Thr511Met)	PACS1 (T511M)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2875882	NM_018026.4(PACS1):c.2294-17C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2873393	NM_018026.4(PACS1):c.1199+11dup	PACS1	Duplication (intron variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2871877	NM_018026.4(PACS1):c.2429+15C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2869213	NM_018026.4(PACS1):c.1732-13C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2868463	NM_018026.4(PACS1):c.1974C>T (p.Arg658=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2862242	NM_018026.4(PACS1):c.1038+16C>G	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2861909	NM_018026.4(PACS1):c.806-11G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2861841	NM_018026.4(PACS1):c.2152G>T (p.Ala718Ser)	PACS1 (A718S)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2861275	NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)	PACS1 (K508R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2859542	NM_018026.4(PACS1):c.2104+14G>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2858913	NM_018026.4(PACS1):c.2250+14C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2858912	NM_018026.4(PACS1):c.2250+12del	PACS1	Deletion (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2858431	NM_018026.4(PACS1):c.2293+12G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2857883	NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)	PACS1 (S779F)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2856430	NM_018026.4(PACS1):c.1804G>A (p.Val602Met)	PACS1 (V602M)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2856282	NM_018026.4(PACS1):c.1546C>T (p.Arg516Trp)	PACS1 (R516W)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2854415	NM_018026.4(PACS1):c.2208-7C>T	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2852052	NM_018026.4(PACS1):c.546C>A (p.Phe182Leu)	PACS1 (F182L)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2851295	NM_018026.4(PACS1):c.1627-4G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2848895	NM_018026.4(PACS1):c.1661A>G (p.Gln554Arg)	PACS1 (Q554R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2847974	NM_018026.4(PACS1):c.915C>A (p.Asp305Glu)	PACS1 (D305E)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2847093	NM_018026.4(PACS1):c.554G>A (p.Arg185Gln)	PACS1 (R185Q)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2846686	NM_018026.4(PACS1):c.445-15T>G	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign

<< First< Prev

Page of 9