CCDST[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155694	GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1	CCDST, HRNR +23 more	Copy number loss	See cases	GUncertain significance
Select item 2681321	NM_001009931.3(HRNR):c.8374T>A (p.Ser2792Thr)	CCDST, HRNR (S2792T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2639196	NM_001009931.3(HRNR):c.8030G>C (p.Arg2677Pro)	CCDST, HRNR (R2677P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2672351	NM_001009931.3(HRNR):c.7620G>A (p.Gln2540=)	HRNR, CCDST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639197	NM_001009931.3(HRNR):c.7599C>A (p.Gly2533=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639198	NM_001009931.3(HRNR):c.7284T>C (p.Ser2428=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025410	NM_001009931.3(HRNR):c.7110C>T (p.His2370=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639199	NM_001009931.3(HRNR):c.7002C>A (p.Gly2334=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639200	NM_001009931.3(HRNR):c.6552C>T (p.Ser2184=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639201	NM_001009931.3(HRNR):c.6273T>C (p.Ser2091=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639202	NM_001009931.3(HRNR):c.6264C>A (p.Ser2088=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639203	NM_001009931.3(HRNR):c.6057T>C (p.His2019=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639204	NM_001009931.3(HRNR):c.3453T>C (p.Ser1151=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639205	NM_001009931.3(HRNR):c.3232C>T (p.Gln1078Ter)	CCDST, HRNR (Q1078*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2639206	NM_001009931.3(HRNR):c.3158G>A (p.Arg1053Gln)	CCDST, HRNR (R1053Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 870249	NM_001009931.3(HRNR):c.3041A>G (p.His1014Arg)	CCDST, HRNR (H1014R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639207	NM_001009931.3(HRNR):c.3023G>C (p.Ser1008Thr)	CCDST, HRNR (S1008T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639208	NM_001009931.3(HRNR):c.2880C>T (p.His960=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639209	NM_001009931.3(HRNR):c.2447G>T (p.Gly816Val)	CCDST, HRNR (G816V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1264550	NM_001009931.3(HRNR):c.2396G>C (p.Ser799Thr)	CCDST, HRNR (S799T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639210	NM_001009931.3(HRNR):c.2325T>G (p.Ser775=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1249194	NM_001009931.3(HRNR):c.2226C>T (p.His742=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 870785	NM_001009931.3(HRNR):c.2139C>G (p.Tyr713Ter)	CCDST, HRNR (Y713*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 870786	NM_001009931.3(HRNR):c.1963G>C (p.Gly655Arg)	CCDST, HRNR (G655R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639211	NM_001009931.3(HRNR):c.1800C>T (p.His600=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639212	NM_001009931.3(HRNR):c.1634G>A (p.Arg545His)	CCDST, HRNR (R545H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639213	NM_001009931.3(HRNR):c.1578A>G (p.Gln526=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639214	NM_001009931.3(HRNR):c.1116T>A (p.Ser372=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639215	NM_001009931.3(HRNR):c.931C>A (p.Arg311=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639216	NM_001009931.3(HRNR):c.900G>A (p.Gly300=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639217	NM_001009931.3(HRNR):c.742G>A (p.Gly248Arg)	CCDST, HRNR (G248R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639218	NM_001009931.3(HRNR):c.636C>T (p.Ser212=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338199	NM_001009931.3(HRNR):c.423_432del (p.Arg142fs)	CCDST, HRNR (R142fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 766003	NM_001009931.3(HRNR):c.82T>C (p.Leu28=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770329	NM_001009931.3(HRNR):c.21C>T (p.Gly7=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 154029	GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1	CCDST, CRNN +2 more	Copy number loss	See cases	GUncertain significance
Select item 1282269	NM_002016.2(FLG):c.*179C>T	CCDST, FLG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3095429	NM_002016.2(FLG):c.12170A>G (p.Tyr4057Cys)	CCDST, FLG (Y4057C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639219	NM_002016.2(FLG):c.12145C>T (p.Leu4049=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602591	NM_002016.2(FLG):c.12128G>A (p.Ser4043Asn)	CCDST, FLG (S4043N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1211343	NM_002016.2(FLG):c.12090G>A (p.Thr4030=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095427	NM_002016.2(FLG):c.12089C>G (p.Thr4030Arg)	CCDST, FLG (T4030R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1186886	NM_002016.2(FLG):c.12089C>A (p.Thr4030Lys)	CCDST, FLG (T4030K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527343	NM_002016.2(FLG):c.12068A>T (p.Asp4023Val)	CCDST, FLG (D4023V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 126848	NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	CCDST, FLG (K4022*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +2 more	GConflicting classifications of pathogenicity
Select item 2639220	NM_002016.2(FLG):c.12057G>A (p.Ala4019=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095426	NM_002016.2(FLG):c.12004A>G (p.Asn4002Asp)	CCDST, FLG (N4002D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095425	NM_002016.2(FLG):c.11996T>C (p.Val3999Ala)	CCDST, FLG (V3999A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342265	NM_002016.2(FLG):c.11989G>C (p.Gly3997Arg)	CCDST, FLG (G3997R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358391	NM_002016.2(FLG):c.11941A>G (p.Ser3981Gly)	CCDST, FLG (S3981G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1231239	NM_002016.2(FLG):c.11909C>T (p.Ser3970Leu)	CCDST, FLG (S3970L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639221	NM_002016.2(FLG):c.11880T>C (p.Ser3960=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279077	NM_002016.2(FLG):c.11872T>A (p.Tyr3958Asn)	CCDST, FLG (Y3958N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 424374	NM_002016.2(FLG):c.11851dup (p.His3951fs)	CCDST, FLG (H3951fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2253092	NM_002016.2(FLG):c.11839C>A (p.Arg3947Ser)	CCDST, FLG (R3947S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519064	NM_002016.2(FLG):c.11827G>A (p.Gly3943Arg)	CCDST, FLG (G3943R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1258538	NM_002016.2(FLG):c.11803T>C (p.Ser3935Pro)	CCDST, FLG (S3935P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3095424	NM_002016.2(FLG):c.11783A>C (p.His3928Pro)	CCDST, FLG (H3928P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279086	NM_002016.2(FLG):c.11741A>T (p.Gln3914Leu)	CCDST, FLG (Q3914L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223168	NM_002016.2(FLG):c.11723A>G (p.Asp3908Gly)	CCDST, FLG (D3908G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570515	NM_002016.2(FLG):c.11720G>A (p.Arg3907His)	CCDST, FLG (R3907H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2325637	NM_002016.2(FLG):c.11714C>T (p.Ser3905Phe)	CCDST, FLG (S3905F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065422	NM_002016.2(FLG):c.11684C>T (p.Ser3895Leu)	CCDST, FLG (S3895L)	Single nucleotide variant (missense variant)	Dermatitis, atopic, 2	GUncertain significance
Select item 1205962	NM_002016.2(FLG):c.11674C>T (p.Arg3892Trp)	CCDST, FLG (R3892W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3279084	NM_002016.2(FLG):c.11671T>G (p.Ser3891Ala)	CCDST, FLG (S3891A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095423	NM_002016.2(FLG):c.11661T>G (p.His3887Gln)	CCDST, FLG (H3887Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254158	NM_002016.2(FLG):c.11636G>A (p.Arg3879Gln)	CCDST, FLG (R3879Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 429362	NM_002016.2(FLG):c.11635C>T (p.Arg3879Ter)	CCDST, FLG (R3879*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3095422	NM_002016.2(FLG):c.11622G>C (p.Glu3874Asp)	CCDST, FLG (E3874D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095421	NM_002016.2(FLG):c.11611G>A (p.Ala3871Thr)	CCDST, FLG (A3871T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 190986	NM_002016.2(FLG):c.11573G>A (p.Arg3858His)	CCDST, FLG (R3858H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2358903	NM_002016.2(FLG):c.11567G>A (p.Ser3856Asn)	CCDST, FLG (S3856N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279119	NM_002016.2(FLG):c.11560A>G (p.Arg3854Gly)	CCDST, FLG (R3854G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279075	NM_002016.2(FLG):c.11555G>A (p.Gly3852Glu)	CCDST, FLG (G3852E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570519	NM_002016.2(FLG):c.11554G>A (p.Gly3852Arg)	CCDST, FLG (G3852R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582860	NM_002016.2(FLG):c.11552C>T (p.Ala3851Val)	CCDST, FLG (A3851V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2593750	NM_002016.2(FLG):c.11537G>A (p.Gly3846Asp)	CCDST, FLG (G3846D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639222	NM_002016.2(FLG):c.11494G>A (p.Glu3832Lys)	CCDST, FLG (E3832K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206088	NM_002016.2(FLG):c.11486G>A (p.Arg3829His)	CCDST, FLG (R3829H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1281065	NM_002016.2(FLG):c.11485C>T (p.Arg3829Cys)	CCDST, FLG (R3829C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1694522	NM_002016.2(FLG):c.11479G>T (p.Gly3827Trp)	CCDST, FLG (G3827W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498414	NM_002016.2(FLG):c.11464G>A (p.Gly3822Ser)	CCDST, FLG (G3822S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280571	NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter)	CCDST, FLG (Q3818*)	Single nucleotide variant (nonsense)	Ichthyosis vulgaris +1 more	GPathogenic
Select item 2345496	NM_002016.2(FLG):c.11440C>T (p.Arg3814Cys)	CCDST, FLG (R3814C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2639223	NM_002016.2(FLG):c.11439A>C (p.Thr3813=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095420	NM_002016.2(FLG):c.11402A>T (p.His3801Leu)	CCDST, FLG (H3801L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341645	NM_002016.2(FLG):c.11402A>C (p.His3801Pro)	CCDST, FLG (H3801P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095419	NM_002016.2(FLG):c.11380C>A (p.Gln3794Lys)	CCDST, FLG (Q3794K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639224	NM_002016.2(FLG):c.11340G>A (p.Arg3780=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393729	NM_002016.2(FLG):c.11317T>C (p.Tyr3773His)	CCDST, FLG (Y3773H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3025045	NM_002016.2(FLG):c.11312G>T (p.Gly3771Val)	CCDST, FLG (G3771V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2393728	NM_002016.2(FLG):c.11299G>A (p.Gly3767Arg)	CCDST, FLG (G3767R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639225	NM_002016.2(FLG):c.11289G>A (p.Gly3763=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095418	NM_002016.2(FLG):c.11266G>A (p.Asp3756Asn)	CCDST, FLG (D3756N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393705	NM_002016.2(FLG):c.11259G>T (p.Glu3753Asp)	CCDST, FLG (E3753D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471903	NM_002016.2(FLG):c.11249C>T (p.Ala3750Val)	CCDST, FLG (A3750V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294794	NM_002016.2(FLG):c.11248G>A (p.Ala3750Thr)	CCDST, FLG (A3750T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 280591	NM_002016.2(FLG):c.11246C>G (p.Ser3749Ter)	CCDST, FLG (S3749*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3095417	NM_002016.2(FLG):c.11235C>A (p.Ser3745Arg)	CCDST, FLG (S3745R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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