"GeneDx"[submitter] AND "CARD14"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1252159	NM_001366385.1(CARD14):c.-20-319_-20-316dup	CARD14	Duplication (intron variant)	not provided	GBenign
Select item 1283751	NM_001366385.1(CARD14):c.-20-316del	CARD14	Deletion (intron variant)	not provided	GBenign
Select item 1249345	NM_001366385.1(CARD14):c.-20-214G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280197	NM_001366385.1(CARD14):c.-20-120G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260535	NM_001366385.1(CARD14):c.-20-36A>C	CARD14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 451338	NM_001366385.1(CARD14):c.113G>A (p.Arg38His)	CARD14 (R38H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 2945536	NM_001366385.1(CARD14):c.131_132dup (p.Gln45fs)	CARD14 (Q45fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 1238817	NM_001366385.1(CARD14):c.212-161G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280130	NM_001366385.1(CARD14):c.349+1G>A	CARD14	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1272548	NM_001366385.1(CARD14):c.349+173G>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220159	NM_001366385.1(CARD14):c.349+322C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273259	NM_001366385.1(CARD14):c.350-120_350-105del	CARD14	Microsatellite (intron variant)	not provided	GBenign
Select item 1272916	NM_001366385.1(CARD14):c.350-120C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420946	NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys)	CARD14 (E197K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2932260	NM_001366385.1(CARD14):c.619A>G (p.Asn207Asp)	CARD14 (N207D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 402483	NM_001366385.1(CARD14):c.633G>A (p.Glu211=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +3 more	GConflicting classifications of pathogenicity
Select item 1192693	NM_001366385.1(CARD14):c.675+26G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GConflicting classifications of pathogenicity
Select item 1233033	NM_001366385.1(CARD14):c.675+223T>C	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216585	NM_001366385.1(CARD14):c.675+255G>T	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261352	NM_001366385.1(CARD14):c.675+280C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218460	NM_001366385.1(CARD14):c.676-269G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213652	NM_001366385.1(CARD14):c.676-248C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728894	NM_001366385.1(CARD14):c.796C>T (p.Arg266Cys)	CARD14 (R266C +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 451074	NM_001366385.1(CARD14):c.842T>A (p.Leu281Gln)	CARD14 (L281Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1207103	NM_001366385.1(CARD14):c.844-122G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200886	NM_001366385.1(CARD14):c.963+193C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271788	NM_001366385.1(CARD14):c.964-330C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290311	NM_001366385.1(CARD14):c.964-236G>C	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272470	NM_001366385.1(CARD14):c.964-147_964-145del	CARD14	Deletion (intron variant)	not provided	GBenign
Select item 1245569	NM_001366385.1(CARD14):c.964-145del	CARD14	Deletion (intron variant)	not provided	GBenign
Select item 1266213	NM_001366385.1(CARD14):c.964-146A>G	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277609	NM_001366385.1(CARD14):c.1089+88C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276315	NM_001366385.1(CARD14):c.1089+139C>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198701	NM_001366385.1(CARD14):c.1090-115G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267116	NM_001366385.1(CARD14):c.1090-34G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 458084	NM_001366385.1(CARD14):c.1170C>T (p.Phe390=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1271944	NM_001366385.1(CARD14):c.1239+185C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282305	NM_001366385.1(CARD14):c.1239+240C>T	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 458085	NM_001366385.1(CARD14):c.1264G>A (p.Glu422Lys)	CARD14 (E422K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1167398	NM_001366385.1(CARD14):c.1323C>T (p.Asp441=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GBenign
Select item 1204976	NM_001366385.1(CARD14):c.1357-175G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 458086	NM_001366385.1(CARD14):c.1371G>A (p.Ser457=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 527889	NM_001366385.1(CARD14):c.1476C>T (p.Phe492=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 1306356	NM_001366385.1(CARD14):c.1480G>C (p.Glu494Gln)	CARD14 (E257Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276837	NM_001366385.1(CARD14):c.1594+185G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277564	NM_001366385.1(CARD14):c.1594+201del	CARD14	Deletion (intron variant)	not provided	GBenign
Select item 402485	NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser)	CARD14 (R547S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1167399	NM_001366385.1(CARD14):c.1753G>A (p.Val585Ile)	CARD14 (V348I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign; association
Select item 68776	NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn)	CARD14 (I593N +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 420354	NM_001366385.1(CARD14):c.1799C>T (p.Pro600Leu)	CARD14 (P600L +1 more)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +3 more	GUncertain significance
Select item 2136148	NM_001366385.1(CARD14):c.1838C>T (p.Thr613Ile)	CARD14 (T376I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1197656	NM_001366385.1(CARD14):c.1851+350C>A	CARD14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240905	NM_001366385.1(CARD14):c.1851+458G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243345	NM_001366385.1(CARD14):c.1852-303TTTCT[5]	CARD14, SGSH	Microsatellite (intron variant)	not provided	GBenign
Select item 1192694	NM_001366385.1(CARD14):c.1852-60T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1227365	NM_001366385.1(CARD14):c.1978+142del	SGSH, CARD14	Deletion (intron variant)	not provided	GBenign
Select item 1192695	NM_001366385.1(CARD14):c.1979-125C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +2 more	GBenign
Select item 1165098	NM_001366385.1(CARD14):c.2219+14T>G	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	Pityriasis rubra pilaris +2 more	GBenign
Select item 402482	NM_001366385.1(CARD14):c.2219+14T>A	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1265055	NM_001366385.1(CARD14):c.2219+252T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246359	NM_001366385.1(CARD14):c.2219+258C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267413	NM_001366385.1(CARD14):c.2219+277G>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170315	NM_001366385.1(CARD14):c.2283+11A>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1253284	NM_001366385.1(CARD14):c.2283+121C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192536	NM_001366385.1(CARD14):c.2398+30A>G	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1192537	NM_001366385.1(CARD14):c.2398+42T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1192538	NM_001366385.1(CARD14):c.2398+49G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +3 more	GBenign
Select item 1182891	NM_001366385.1(CARD14):c.2398+220T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234611	NM_001366385.1(CARD14):c.2398+298del	CARD14, LOC126862662 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1201815	NM_001366385.1(CARD14):c.2399-47G>A	SGSH, CARD14 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422207	NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys)	SGSH, CARD14 +1 more (E808K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 402487	NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)	CARD14, LOC126862662 +1 more (R820W)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +4 more	GConflicting classifications of pathogenicity
Select item 1167400	NM_001366385.1(CARD14):c.2481C>T (p.Pro827=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1216519	NM_001366385.1(CARD14):c.2569+151A>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 458097	NM_001366385.1(CARD14):c.2648G>A (p.Arg883His)	CARD14, LOC126862662 +1 more (R883H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1293838	NM_001366385.1(CARD14):c.2691+115C>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214894	NM_001366385.1(CARD14):c.2691+311C>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255138	NM_001366385.1(CARD14):c.2692-182A>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246193	NM_001366385.1(CARD14):c.2692-151A>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202696	NM_001366385.1(CARD14):c.2692-147C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304320	NM_001366385.1(CARD14):c.2726G>A (p.Ser909Asn)	CARD14, SGSH (S909N)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1308169	NM_001366385.1(CARD14):c.2806A>G (p.Lys936Glu)	CARD14, SGSH (K936E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1293767	NM_001366385.1(CARD14):c.2807+123C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258721	NM_001366385.1(CARD14):c.2807+233G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263464	NM_001366385.1(CARD14):c.2807+248T>C	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193872	NM_001366385.1(CARD14):c.2807+293C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221427	NM_001366385.1(CARD14):c.2808-290C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220611	NM_001366385.1(CARD14):c.2808-252A>G	CARD14, SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170164	NM_001366385.1(CARD14):c.2808-19C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 458100	NM_001366385.1(CARD14):c.2853G>A (p.Glu951=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign
Select item 458102	NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln)	CARD14, SGSH (R962Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1306391	NM_001366385.1(CARD14):c.2962G>A (p.Ala988Thr)	CARD14, SGSH (A988T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1189618	NM_001366385.1(CARD14):c.*46T>C	CARD14, SGSH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1278751	NM_001366385.1(CARD14):c.*231T>G	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262670	NM_001366385.1(CARD14):c.*274G>A	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281456	NM_001366385.1(CARD14):c.*288G>A	CARD14, SGSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14, SGSH (R245H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 253980	GRCh37/hg19 17q25.3(chr17:78041640-78227014)x3	CARD14, CCDC40 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 99