ClinVar for Gene (Select 11330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3061404	NM_007272.3(CTRC):c.324C>G (p.His108Gln)	CTRC (H108Q)	Single nucleotide variant (missense variant)	CTRC-related condition	GUncertain significance
Select item 3019624	NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)	CTRC (E92fs)	Duplication (frameshift variant)	Hereditary pancreatitis	GUncertain significance
Select item 2987814	NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)	CTRC (W164R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2983107	NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)	CTRC	Insertion (inframe_insertion)	Hereditary pancreatitis	GUncertain significance
Select item 2968924	NM_007272.3(CTRC):c.494-1G>A	CTRC	Single nucleotide variant (splice acceptor variant)	Hereditary pancreatitis	GUncertain significance
Select item 2964315	NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)	CTRC (G242D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2921107	NM_007272.3(CTRC):c.132G>A (p.Gln44=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely pathogenic
Select item 2920951	NM_007272.3(CTRC):c.40+6C>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 2916557	NM_007272.3(CTRC):c.372C>T (p.Leu124=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GUncertain significance
Select item 2915456	NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)	CTRC (A36S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2914076	NM_007272.3(CTRC):c.150C>G (p.Leu50=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2900092	NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)	CTRC (S99T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2882527	NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)	CTRC (W160*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 2864981	NC_000001.11:g.15445598_15445607del	CTRC	Deletion	Hereditary pancreatitis	GUncertain significance
Select item 2843205	NM_007272.3(CTRC):c.231-11C>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2831385	NM_007272.3(CTRC):c.497A>G (p.Asn166Ser)	CTRC (N166S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2801971	NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)	CTRC (W261*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GUncertain significance
Select item 2797779	NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)	CTRC (I122T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2765301	NM_007272.3(CTRC):c.437del (p.Asp146fs)	CTRC (D146fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GUncertain significance
Select item 2765176	NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)	CTRC (P219L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2744788	NM_007272.3(CTRC):c.132+16G>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2741727	NM_007272.3(CTRC):c.40+14T>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2729831	NM_007272.3(CTRC):c.239G>A (p.Arg80Gln)	CTRC (R80Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2720335	NM_007272.3(CTRC):c.640-6G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2712587	NM_007272.3(CTRC):c.132+20G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2683701	NM_007272.3(CTRC):c.661A>T (p.Asn221Tyr)	CTRC (N221Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681027	NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)	CTRC (S16I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2626266	NM_007272.3(CTRC):c.27G>C (p.Ala9=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626265	NM_007272.3(CTRC):c.150C>T (p.Leu50=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626264	NM_007272.3(CTRC):c.707G>C (p.Ser236Thr)	CTRC (S236T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626263	NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)	CTRC (W43*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GLikely pathogenic
Select item 2626262	NM_007272.3(CTRC):c.443T>A (p.Leu148Gln)	CTRC (L148Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626261	NM_007272.3(CTRC):c.341A>G (p.Asn114Ser)	CTRC (N114S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626260	NM_007272.3(CTRC):c.144G>A (p.Gln48=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626259	NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)	CTRC (G3D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626258	NM_007272.3(CTRC):c.688G>A (p.Glu230Lys)	CTRC (E230K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626257	NM_007272.3(CTRC):c.368C>T (p.Ala123Val)	CTRC (A123V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626256	NM_007272.3(CTRC):c.491G>C (p.Trp164Ser)	CTRC (W164S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626255	NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)	CTRC (L127F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626254	NM_007272.3(CTRC):c.114C>T (p.Pro38=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626253	NM_007272.3(CTRC):c.253G>C (p.Ala85Pro)	CTRC (A85P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626252	NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)	CTRC (R195T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626251	NM_007272.3(CTRC):c.602T>A (p.Val201Glu)	CTRC (V201E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626250	NM_007272.3(CTRC):c.-2C>T	CTRC	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 2624557	NM_007272.3(CTRC):c.492G>T (p.Trp164Cys)	CTRC (W164C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2624556	NM_007272.3(CTRC):c.330C>G (p.His110Gln)	CTRC (H110Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2624555	NM_007272.3(CTRC):c.6G>A (p.Leu2=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2586431	NM_007272.3(CTRC):c.302T>C (p.Phe101Ser)	CTRC (F101S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564433	NM_007272.3(CTRC):c.205G>T (p.Val69Phe)	CTRC (V69F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564432	NM_007272.3(CTRC):c.516G>A (p.Lys172=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564431	NM_007272.3(CTRC):c.540G>C (p.Val180=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564430	NM_007272.3(CTRC):c.192T>A (p.Ile64=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564429	NM_007272.3(CTRC):c.226A>C (p.Ile76Leu)	CTRC (I76L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564428	NM_007272.3(CTRC):c.801G>A (p.Gln267=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564427	NM_007272.3(CTRC):c.406A>G (p.Thr136Ala)	CTRC (T136A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564426	NM_007272.3(CTRC):c.308G>T (p.Gly103Val)	CTRC (G103V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564425	NM_007272.3(CTRC):c.798G>C (p.Met266Ile)	CTRC (M266I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564424	NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)	CTRC (F22L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2564422	NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)	CTRC (N25D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2561888	NM_007272.3(CTRC):c.776T>C (p.Ile259Thr)	CTRC (I259T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2561887	NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)	CTRC (Q174*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GPathogenic
Select item 2561885	NM_007272.3(CTRC):c.221A>G (p.His74Arg)	CTRC (H74R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2561884	NM_007272.3(CTRC):c.493+3_493+6del	CTRC	Microsatellite (splice donor variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497353	NM_007272.3(CTRC):c.344C>T (p.Ala115Val)	CTRC (A115V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497352	NM_007272.3(CTRC):c.600G>C (p.Met200Ile)	CTRC (M200I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497351	NM_007272.3(CTRC):c.639+2T>A	CTRC	Single nucleotide variant (splice donor variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497350	NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr)	CTRC (C75Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497349	NM_007272.3(CTRC):c.137C>T (p.Ser46Phe)	CTRC (S46F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497348	NM_007272.3(CTRC):c.329A>G (p.His110Arg)	CTRC (H110R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497347	NM_007272.3(CTRC):c.89T>C (p.Val30Ala)	CTRC (V30A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497345	NM_007272.3(CTRC):c.647C>T (p.Ser216Phe)	CTRC (S216F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497344	NM_007272.3(CTRC):c.447C>T (p.Leu149=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2497343	NM_007272.3(CTRC):c.510T>C (p.Ala170=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2497342	NM_007272.3(CTRC):c.539T>C (p.Val180Ala)	CTRC (V180A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2452656	NM_007272.3(CTRC):c.56T>C (p.Val19Ala)	CTRC (V19A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2452648	NM_007272.3(CTRC):c.147C>T (p.Tyr49=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449718	NM_007272.3(CTRC):c.465C>T (p.Cys155=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449717	NM_007272.3(CTRC):c.636C>T (p.Cys212=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449716	NM_007272.3(CTRC):c.335G>A (p.Arg112Lys)	CTRC (R112K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 2449715	NM_007272.3(CTRC):c.331A>G (p.Lys111Glu)	CTRC (K111E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 2449714	NM_007272.3(CTRC):c.744G>A (p.Lys248=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449713	NM_007272.3(CTRC):c.55G>A (p.Val19Met)	CTRC (V19M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449712	NM_007272.3(CTRC):c.440C>G (p.Ser147Cys)	CTRC (S147C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449711	NM_007272.3(CTRC):c.336A>T (p.Arg112Ser)	CTRC (R112S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449710	NM_007272.3(CTRC):c.260G>A (p.Gly87Glu)	CTRC (G87E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449709	NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)	CTRC (T5P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449708	NM_007272.3(CTRC):c.453G>T (p.Lys151Asn)	CTRC (K151N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449707	NM_007272.3(CTRC):c.633C>T (p.Ala211=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449706	NM_007272.3(CTRC):c.521A>G (p.Gln174Arg)	CTRC (Q174R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449705	NM_007272.3(CTRC):c.118A>C (p.Ser40Arg)	CTRC (S40R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449704	NM_007272.3(CTRC):c.293G>T (p.Gly98Val)	CTRC (G98V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2428696	NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)	CTRC (C155Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely pathogenic
Select item 2428662	NM_007272.3(CTRC):c.357-3C>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2197388	NM_007272.3(CTRC):c.640-11G>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2189683	NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)	CTRC (D121G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2184147	NM_007272.3(CTRC):c.162G>T (p.Thr54=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2156129	NM_007272.3(CTRC):c.328del (p.His110fs)	CTRC (H110fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GUncertain significance

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