79092[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
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 1694250	NM_001366385.1(CARD14):c.-8G>T	CARD14	Single nucleotide variant (5 prime UTR variant +1 more)	CARD14-related disorder +1 more	GBenign
Select item 2939623	NM_001366385.1(CARD14):c.4G>A (p.Gly2Arg)	CARD14 (G2R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 720162	NM_001366385.1(CARD14):c.7G>A (p.Glu3Lys)	CARD14 (E3K)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 761318	NM_001366385.1(CARD14):c.9A>G (p.Glu3=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947488	NM_001366385.1(CARD14):c.13_14del (p.Cys5fs)	CARD14 (C5fs)	Microsatellite (frameshift variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 840109	NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys)	CARD14 (R6C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GUncertain significance
Select item 2934956	NM_001366385.1(CARD14):c.19A>T (p.Arg7Trp)	CARD14 (R7W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1976896	NM_001366385.1(CARD14):c.21G>A (p.Arg7=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 834982	NM_001366385.1(CARD14):c.26C>G (p.Ser9Cys)	CARD14 (S9C)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 722898	NM_001366385.1(CARD14):c.27C>T (p.Ser9=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder +3 more	GBenign/Likely benign
Select item 2927633	NM_001366385.1(CARD14):c.30A>G (p.Ala10=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 662047	NM_001366385.1(CARD14):c.35C>T (p.Thr12Met)	CARD14 (T12M)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +2 more	GConflicting classifications of pathogenicity
Select item 2648398	NM_001366385.1(CARD14):c.36G>A (p.Thr12=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1557949	NM_001366385.1(CARD14):c.36G>C (p.Thr12=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 644953	NM_001366385.1(CARD14):c.40C>G (p.Leu14Val)	CARD14 (L14V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1639357	NM_001366385.1(CARD14):c.45C>T (p.Asp15=)	CARD14	Single nucleotide variant (non-coding transcript variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1944556	NM_001366385.1(CARD14):c.46G>A (p.Glu16Lys)	CARD14 (E16K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1928088	NM_001366385.1(CARD14):c.49G>A (p.Glu17Lys)	CARD14 (E17K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 752341	NM_001366385.1(CARD14):c.54A>G (p.Thr18=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2932921	NM_001366385.1(CARD14):c.56T>C (p.Leu19Pro)	CARD14 (L19P)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1906607	NM_001366385.1(CARD14):c.63G>A (p.Glu21=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1721113	NM_001366385.1(CARD14):c.64A>G (p.Met22Val)	CARD14 (M22V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1005594	NM_001366385.1(CARD14):c.79C>T (p.Arg27Cys)	CARD14 (R27C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 963929	NM_001366385.1(CARD14):c.80G>A (p.Arg27His)	CARD14 (R27H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2928923	NM_001366385.1(CARD14):c.81C>T (p.Arg27=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1387161	NM_001366385.1(CARD14):c.86G>A (p.Arg29Lys)	CARD14 (R29K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2294775	NM_001366385.1(CARD14):c.87G>C (p.Arg29Ser)	CARD14 (R29S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1592658	NM_001366385.1(CARD14):c.90C>T (p.Ile30=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GConflicting classifications of pathogenicity
Select item 1378433	NM_001366385.1(CARD14):c.90del (p.Ile30fs)	CARD14 (I30fs)	Deletion (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1440393	NM_001366385.1(CARD14):c.91G>A (p.Val31Ile)	CARD14 (V31I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 645960	NM_001366385.1(CARD14):c.94C>T (p.Arg32Cys)	CARD14 (R32C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1490536	NM_001366385.1(CARD14):c.95G>A (p.Arg32His)	CARD14 (R32H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2937800	NM_001366385.1(CARD14):c.99C>T (p.Cys33=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 1056814	NM_001366385.1(CARD14):c.105C>G (p.Cys35Trp)	CARD14 (C35W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2931553	NM_001366385.1(CARD14):c.107C>T (p.Pro36Leu)	CARD14 (P36L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 68775	NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys)	CARD14 (R38C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 451338	NM_001366385.1(CARD14):c.113G>A (p.Arg38His)	CARD14 (R38H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2171121	NM_001366385.1(CARD14):c.117C>A (p.Leu39=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 3137298	NM_001366385.1(CARD14):c.125A>G (p.Tyr42Cys)	CARD14 (Y42C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2945536	NM_001366385.1(CARD14):c.131_132dup (p.Gln45fs)	CARD14 (Q45fs)	Microsatellite (frameshift variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2928210	NM_001366385.1(CARD14):c.129G>A (p.Leu43=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1047396	NM_001366385.1(CARD14):c.130C>T (p.Arg44Cys)	CARD14 (R44C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 582121	NM_001366385.1(CARD14):c.131G>A (p.Arg44His)	CARD14 (R44H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2424855	NM_001366385.1(CARD14):c.150C>G (p.Cys50Trp)	CARD14 (C50W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 965492	NM_001366385.1(CARD14):c.155T>C (p.Leu52Pro)	CARD14 (L52P)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1422521	NM_001366385.1(CARD14):c.159C>G (p.Asp53Glu)	CARD14 (D53E)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 741003	NM_001366385.1(CARD14):c.159C>T (p.Asp53=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GLikely benign
Select item 1514189	NM_001366385.1(CARD14):c.160G>A (p.Glu54Lys)	CARD14 (E54K)	Single nucleotide variant (non-coding transcript variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1353311	NM_001366385.1(CARD14):c.173T>C (p.Leu58Pro)	CARD14 (L58P)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 941809	NM_001366385.1(CARD14):c.176A>G (p.His59Arg)	CARD14 (H59R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 948973	NM_001366385.1(CARD14):c.177C>G (p.His59Gln)	CARD14 (H59Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2485287	NM_001366385.1(CARD14):c.179G>A (p.Ser60Asn)	CARD14 (S60N)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +2 more	GUncertain significance
Select item 68777	NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln)	CARD14 (R62Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 2932899	NM_001366385.1(CARD14):c.191C>T (p.Thr64Ile)	CARD14 (T64I)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 761939	NM_001366385.1(CARD14):c.198C>T (p.Ser66=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GLikely benign
Select item 2935683	NM_001366385.1(CARD14):c.199G>A (p.Ala67Thr)	CARD14 (A67T)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 844071	NM_001366385.1(CARD14):c.202A>C (p.Met68Leu)	CARD14 (M68L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 458092	NM_001366385.1(CARD14):c.203T>C (p.Met68Thr)	CARD14 (M68T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 662399	NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)	CARD14 (R69W)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 944747	NM_001366385.1(CARD14):c.206G>A (p.Arg69Gln)	CARD14 (R69Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 850069	NM_001366385.1(CARD14):c.210C>T (p.Ala70=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1442700	NM_001366385.1(CARD14):c.211G>A (p.Gly71Arg)	CARD14 (G71R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1969649	NM_001366385.1(CARD14):c.211+1G>C	CARD14	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2922837	NM_001366385.1(CARD14):c.211+6C>T	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GUncertain significance
Select item 764157	NM_001366385.1(CARD14):c.211+7G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1627635	NM_001366385.1(CARD14):c.211+20C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GBenign
Select item 1238817	NM_001366385.1(CARD14):c.212-161G>A	CARD14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2927784	NM_001366385.1(CARD14):c.212-20A>G	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1614723	NM_001366385.1(CARD14):c.212-19G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GBenign
Select item 1584460	NM_001366385.1(CARD14):c.212-17C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1671451	NM_001366385.1(CARD14):c.212-16G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2946756	NM_001366385.1(CARD14):c.212-8C>T	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 1518944	NM_001366385.1(CARD14):c.233A>C (p.Lys78Thr)	CARD14 (K78T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 527867	NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn)	CARD14 (K78N)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 645768	NM_001366385.1(CARD14):c.236C>T (p.Thr79Ile)	CARD14 (T79I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2044651	NM_001366385.1(CARD14):c.238C>T (p.Arg80Ter)	CARD14 (R80*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1516066	NM_001366385.1(CARD14):c.239G>A (p.Arg80Gln)	CARD14 (R80Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1139961	NM_001366385.1(CARD14):c.249C>T (p.Asn83=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +3 more	GConflicting classifications of pathogenicity
Select item 1487991	NM_001366385.1(CARD14):c.250G>C (p.Gly84Arg)	CARD14 (G84R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 640077	NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg)	CARD14 (G84R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 2672147	NM_001366385.1(CARD14):c.251G>A (p.Gly84Glu)	CARD14 (G84E)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2931449	NM_001366385.1(CARD14):c.253G>A (p.Ala85Thr)	CARD14 (A85T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1084552	NM_001366385.1(CARD14):c.258C>T (p.Ile86=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1391634	NM_001366385.1(CARD14):c.259G>A (p.Ala87Thr)	CARD14 (A87T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 855891	NM_001366385.1(CARD14):c.267G>A (p.Leu89=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1694238	NM_001366385.1(CARD14):c.288C>T (p.Asn96=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +2 more	GConflicting classifications of pathogenicity
Select item 808327	NM_001366385.1(CARD14):c.292G>A (p.Asp98Asn)	CARD14 (D98N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 753762	NM_001366385.1(CARD14):c.294C>T (p.Asp98=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 458104	NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys)	CARD14 (Y100C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2261387	NM_001366385.1(CARD14):c.310A>G (p.Thr104Ala)	CARD14 (T104A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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