30032[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 805

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1227736	NC_000011.10:g.66070128C>T	LOC130006097, PACS1	Single nucleotide variant	not provided	GBenign
Select item 1226487	NC_000011.10:g.66070208C>G	LOC130006097, PACS1	Single nucleotide variant	not provided	GBenign
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 588946	NM_018026.4(PACS1):c.21G>A (p.Ala7=)	LOC130006098, PACS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2641980	NM_018026.4(PACS1):c.27T>C (p.Gly9=)	PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588470	NM_018026.4(PACS1):c.44G>C (p.Gly15Ala)	PACS1 (G15A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327302	NM_018026.4(PACS1):c.46G>T (p.Gly16Cys)	PACS1 (G16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796336	NM_018026.4(PACS1):c.48C>T (p.Gly16=)	PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3363938	NM_018026.4(PACS1):c.67T>G (p.Ser23Ala)	PACS1 (S23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321766	NM_018026.4(PACS1):c.74T>G (p.Val25Gly)	PACS1 (V25G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2457220	NM_018026.4(PACS1):c.77C>T (p.Ala26Val)	PACS1 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 211816	NM_018026.4(PACS1):c.83C>G (p.Ser28Cys)	PACS1 (S28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3046784	NM_018026.4(PACS1):c.101_127del (p.Pro34_Pro42del)	PACS1	Deletion	PACS1-related disorder	GUncertain significance
Select item 2534376	NM_018026.4(PACS1):c.89A>C (p.Gln30Pro)	PACS1 (Q30P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211810	NM_018026.4(PACS1):c.95CGC[4] (p.Pro34dup)	PACS1	Microsatellite (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2534377	NM_018026.4(PACS1):c.95C>A (p.Pro32Gln)	PACS1 (P32Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1235931	NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup)	PACS1	Duplication (inframe_insertion)	not provided +3 more	GBenign/Likely benign
Select item 2231094	NM_018026.4(PACS1):c.110_133del (p.Gln37_Gln44del)	PACS1	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 1744643	NM_018026.4(PACS1):c.104AGC[7] (p.Gln40_Pro41insGln)	PACS1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GBenign
Select item 1184327	NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup)	PACS1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3060801	NM_018026.4(PACS1):c.104AGC[5] (p.Gln40del)	PACS1 (Q40del)	Microsatellite	PACS1-related disorder	GLikely benign
Select item 2740001	NM_018026.4(PACS1):c.104AGC[3] (p.Gln38_Gln40del)	PACS1	Microsatellite (inframe_deletion)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 129868	NM_018026.4(PACS1):c.102G>A (p.Pro34=)	PACS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 211811	NM_018026.4(PACS1):c.104A>C (p.Gln35Pro)	PACS1 (Q35P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1304268	NM_018026.4(PACS1):c.106C>G (p.Gln36Glu)	PACS1 (Q36E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326773	NM_018026.4(PACS1):c.113A>C (p.Gln38Pro)	PACS1 (Q38P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2274407	NM_018026.4(PACS1):c.124_135del (p.Pro42_Pro45del)	PACS1	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 2231822	NM_018026.4(PACS1):c.125C>T (p.Pro42Leu)	PACS1 (P42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211812	NM_018026.4(PACS1):c.135G>T (p.Pro45=)	PACS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1315449	NM_018026.4(PACS1):c.136A>G (p.Thr46Ala)	PACS1 (T46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312667	NM_018026.4(PACS1):c.154C>T (p.Gln52Ter)	PACS1 (Q52*)	Single nucleotide variant (nonsense)	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 436125	NM_018026.4(PACS1):c.162C>G (p.Thr54=)	PACS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3351949	NM_018026.4(PACS1):c.171C>G (p.Ser57=)	PACS1	Single nucleotide variant (synonymous variant)	PACS1-related disorder	GLikely benign
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 588014	NM_018026.4(PACS1):c.215C>T (p.Thr72Ile)	LOC130006099, PACS1 (T72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 1300613	NM_018026.4(PACS1):c.234G>C (p.Val78=)	LOC130006099, PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1191816	NM_018026.4(PACS1):c.246G>A (p.Ser82=)	LOC130006099, PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1802617	NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)	LOC130006099, PACS1 (Q100*)	Single nucleotide variant (nonsense)	Schuurs-Hoeijmakers syndrome	GLikely pathogenic
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 1731347	NM_018026.4(PACS1):c.342C>T (p.Ser114=)	LOC130006100, PACS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	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 1202806	NM_018026.4(PACS1):c.356+25G>A	LOC130006100, PACS1	Single nucleotide variant (intron 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 1237219	NM_018026.4(PACS1):c.356+217G>T	PACS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296589	NM_018026.4(PACS1):c.356+259C>T	PACS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236824	NM_018026.4(PACS1):c.357-35G>A	PACS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1584656	NM_018026.4(PACS1):c.357-12_357-11del	PACS1	Microsatellite (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 1704582	NM_018026.4(PACS1):c.357-4C>T	PACS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2698235	NM_018026.4(PACS1):c.368T>C (p.Leu123Ser)	PACS1 (L123S)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2808793	NM_018026.4(PACS1):c.372C>T (p.Thr124=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 1528226	NM_018026.4(PACS1):c.384C>T (p.Leu128=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 772455	NM_018026.4(PACS1):c.385G>A (p.Val129Ile)	PACS1 (V129I)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2637070	NM_018026.4(PACS1):c.388A>G (p.Met130Val)	PACS1 (M130V)	Single nucleotide variant (missense variant)	PACS1-related disorder	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 771952	NM_018026.4(PACS1):c.399A>G (p.Glu133=)	PACS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2074671	NM_018026.4(PACS1):c.400A>G (p.Met134Val)	PACS1 (M134V)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 1205017	NM_018026.4(PACS1):c.401T>C (p.Met134Thr)	PACS1 (M134T)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome +1 more	GLikely benign
Select item 2698937	NM_018026.4(PACS1):c.403G>T (p.Asp135Tyr)	PACS1 (D135Y)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
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 975461	NM_018026.4(PACS1):c.416A>C (p.Asn139Thr)	PACS1 (N139T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 1371680	NM_018026.4(PACS1):c.424G>A (p.Val142Ile)	PACS1 (V142I)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GBenign
Select item 2068064	NM_018026.4(PACS1):c.429C>T (p.Ile143=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2002648	NM_018026.4(PACS1):c.429C>A (p.Ile143=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 588382	NM_018026.4(PACS1):c.430G>A (p.Ala144Thr)	PACS1 (A144T)	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 2765778	NM_018026.4(PACS1):c.444+6T>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2090787	NM_018026.4(PACS1):c.444+9G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GConflicting classifications of pathogenicity
Select item 2739738	NM_018026.4(PACS1):c.444+10G>C	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2009432	NM_018026.4(PACS1):c.444+14G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2972958	NM_018026.4(PACS1):c.444+19T>C	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 1296587	NM_018026.4(PACS1):c.445-300T>A	PACS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265513	NM_018026.4(PACS1):c.445-300T>G	PACS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501346	NM_018026.4(PACS1):c.445-21G>C	PACS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717129	NM_018026.4(PACS1):c.445-16_445-15del	PACS1	Deletion (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2846686	NM_018026.4(PACS1):c.445-15T>G	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2065041	NM_018026.4(PACS1):c.445-15T>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 1187536	NM_018026.4(PACS1):c.445-15T>C	PACS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1336702	NM_018026.4(PACS1):c.460C>A (p.Leu154Ile)	PACS1 (L154I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2769932	NM_018026.4(PACS1):c.461T>G (p.Leu154Arg)	PACS1 (L154R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2145404	NM_018026.4(PACS1):c.463C>T (p.Arg155Cys)	PACS1 (R155C)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2149973	NM_018026.4(PACS1):c.471C>T (p.Asn157=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 1315083	NM_018026.4(PACS1):c.472G>A (p.Glu158Lys)	PACS1 (E158K)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome +1 more	GUncertain significance
Select item 1947853	NM_018026.4(PACS1):c.477C>T (p.Ile159=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 2160141	NM_018026.4(PACS1):c.478G>A (p.Val160Ile)	PACS1 (V160I)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2795936	NM_018026.4(PACS1):c.483T>C (p.Leu161=)	PACS1	Single nucleotide variant (synonymous variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 1214349	NM_018026.4(PACS1):c.489T>A (p.Ala163=)	PACS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 9