CASP14[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287531	NM_012114.3(CASP14):c.-46-262C>T	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247864	NM_012114.3(CASP14):c.-46-259A>G	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238465	NM_012114.3(CASP14):c.-46-101T>A	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045450	NM_012114.3(CASP14):c.-10C>T	CASP14	Single nucleotide variant (5 prime UTR variant)	CASP14-related disorder	GLikely benign
Select item 3137577	NM_012114.3(CASP14):c.14G>A (p.Arg5Gln)	CASP14 (R5Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1228577	NM_012114.3(CASP14):c.28-271T>G	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251768	NM_012114.3(CASP14):c.28-173T>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137582	NM_012114.3(CASP14):c.52C>T (p.Arg18Cys)	CASP14 (R18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137583	NM_012114.3(CASP14):c.53G>A (p.Arg18His)	CASP14 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777293	NM_012114.3(CASP14):c.69G>A (p.Leu23=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137588	NM_012114.3(CASP14):c.86G>A (p.Arg29Gln)	CASP14 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391198	NM_012114.3(CASP14):c.106C>G (p.Leu36Val)	CASP14 (L36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365127	NM_012114.3(CASP14):c.110A>G (p.Asp37Gly)	CASP14 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043803	NM_012114.3(CASP14):c.130C>T (p.Arg44Trp)	CASP14 (R44W)	Single nucleotide variant (missense variant)	CASP14-related disorder	GBenign
Select item 3137578	NM_012114.3(CASP14):c.161G>C (p.Arg54Thr)	CASP14 (R54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770655	NM_012114.3(CASP14):c.174C>T (p.Ala58=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 713661	NM_012114.3(CASP14):c.177G>A (p.Glu59=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781880	NM_012114.3(CASP14):c.193C>G (p.Leu65Val)	CASP14 (L65V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2406588	NM_012114.3(CASP14):c.224G>C (p.Arg75Pro)	CASP14 (R75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040425	NM_012114.3(CASP14):c.225G>C (p.Arg75=)	CASP14	Single nucleotide variant (synonymous variant)	CASP14-related disorder	GBenign
Select item 2610852	NM_012114.3(CASP14):c.263C>A (p.Ala88Asp)	CASP14 (A88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027761	NM_012114.3(CASP14):c.328G>A (p.Glu110Lys)	CASP14 (E110K)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 12	GUncertain significance
Select item 1027762	NM_012114.3(CASP14):c.332C>T (p.Ala111Val)	CASP14 (A111V)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 12	GUncertain significance
Select item 2501195	NM_012114.3(CASP14):c.361C>T (p.Arg121Ter)	CASP14 (R121*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3137579	NM_012114.3(CASP14):c.362G>A (p.Arg121Gln)	CASP14 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357268	NM_012114.3(CASP14):c.383T>A (p.Ile128Asn)	CASP14 (I128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723314	NM_012114.3(CASP14):c.397C>T (p.Arg133Ter)	CASP14 (R133*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1253688	NM_012114.3(CASP14):c.404-271T>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286125	NM_012114.3(CASP14):c.404-151A>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2355872	NM_012114.3(CASP14):c.410G>T (p.Arg137Met)	CASP14 (R137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343636	NM_012114.3(CASP14):c.449T>A (p.Met150Lys)	CASP14 (M150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375306	NM_012114.3(CASP14):c.462_463del (p.Asp154fs)	CASP14 (D154fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2531077	NM_012114.3(CASP14):c.475A>G (p.Ile159Val)	CASP14 (I159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137580	NM_012114.3(CASP14):c.502G>A (p.Val168Ile)	CASP14 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388008	NM_012114.3(CASP14):c.514G>A (p.Val172Ile)	CASP14 (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235544	NM_012114.3(CASP14):c.520+77T>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738069	NM_012114.3(CASP14):c.522A>G (p.Gly174=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137581	NM_012114.3(CASP14):c.529G>A (p.Ala177Thr)	CASP14 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736941	NM_012114.3(CASP14):c.536G>A (p.Arg179Gln)	CASP14 (R179Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725352	NM_012114.3(CASP14):c.570C>A (p.Thr190=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474859	NM_012114.3(CASP14):c.571C>G (p.Leu191Val)	CASP14 (L191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137584	NM_012114.3(CASP14):c.577G>A (p.Asp193Asn)	CASP14 (D193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258242	NM_012114.3(CASP14):c.624+224G>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229485	NM_012114.3(CASP14):c.625-118A>G	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282674	NM_012114.3(CASP14):c.625-34G>T	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137585	NM_012114.3(CASP14):c.631C>T (p.Arg211Trp)	CASP14 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137586	NM_012114.3(CASP14):c.652C>G (p.Leu218Val)	CASP14 (L218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137587	NM_012114.3(CASP14):c.680C>T (p.Thr227Met)	CASP14 (T227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299396	NM_012114.3(CASP14):c.707G>A (p.Arg236Gln)	CASP14 (R236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677238	NM_012114.3(CASP14):c.719A>T (p.Tyr240Phe)	CASP14 (Y240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343637	NM_012114.3(CASP14):c.729G>A (p.Ter243=)	CASP14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1290269	NM_012114.3(CASP14):c.*97C>T	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258783	NM_012114.3(CASP14):c.*188A>G	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283613	NM_012114.3(CASP14):c.*228G>T	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1221344	NM_012114.3(CASP14):c.*247T>C	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2429233	NC_000019.9:g.(?_15160290)_(15164770_15165968)del	CASP14	Deletion	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56