ClinVar for Gene (Select 5624) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 401

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360092	NM_000312.4(PROC):c.830A>G (p.Glu277Gly)	PROC (E258G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347997	NM_000312.4(PROC):c.768T>A (p.Asp256Glu)	PROC (D237E +9 more)	Single nucleotide variant (missense variant)	PROC-related disorder	GUncertain significance
Select item 3340421	NM_000312.4(PROC):c.1075G>T (p.Val359Phe)	PROC (V340F +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253048	NM_000312.4(PROC):c.329C>T (p.Thr110Met)	PROC (R162C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247344	NC_000002.11:g.(?_128175983)_(128184818_?)del	PROC	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 3233488	NM_000312.4(PROC):c.1024T>C (p.Trp342Arg)	PROC (W323R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3061365	NM_000312.4(PROC):c.556C>T (p.Pro186Ser)	PROC (P167S +9 more)	Single nucleotide variant (missense variant)	PROC-related disorder	GUncertain significance
Select item 3058328	NM_000312.4(PROC):c.*78del	PROC	Deletion (3 prime UTR variant)	PROC-related disorder	GLikely benign
Select item 3051025	NC_000002.12:g.127418399G>A	PROC	Single nucleotide variant	PROC-related disorder	GLikely benign
Select item 3050939	NM_000312.4(PROC):c.288C>T (p.Pro96=)	PROC (P148L)	Single nucleotide variant (synonymous variant +1 more)	PROC-related disorder	GLikely benign
Select item 3043186	NM_000312.4(PROC):c.-32G>A	PROC	Single nucleotide variant (5 prime UTR variant +1 more)	PROC-related disorder	GLikely benign
Select item 3037389	NM_000312.4(PROC):c.-51G>A	PROC (R6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	PROC-related disorder	GLikely benign
Select item 3020627	NM_000312.4(PROC):c.400+9del	PROC (E158fs +3 more)	Deletion (frameshift variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GBenign
Select item 3020486	NM_000312.4(PROC):c.797-20C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 3016997	NM_000312.4(PROC):c.825G>C (p.Lys275Asn)	PROC (K256N +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 3015471	NM_000312.4(PROC):c.837C>A (p.Asp279Glu)	PROC (D260E +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 3014915	NM_000312.4(PROC):c.628C>T (p.Pro210Ser)	PROC (P191S +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 3013612	NM_000312.4(PROC):c.1221C>T (p.Val407=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 3004636	NM_000312.4(PROC):c.364T>G (p.Cys122Gly)	PROC (C143G +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2991922	NM_000312.4(PROC):c.666C>T (p.Asp222=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2962467	NM_000312.4(PROC):c.679-19T>C	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2956353	NM_000312.4(PROC):c.262+18C>T	PROC (P115S)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2955770	NM_000312.4(PROC):c.1177G>A (p.Asp393Asn)	PROC (D391N +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2955006	NM_000312.4(PROC):c.237+15G>A	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2916974	NM_000312.4(PROC):c.263-19A>T	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2911914	NM_000312.4(PROC):c.1335C>T (p.Ile445=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2910456	NM_000312.4(PROC):c.69T>C (p.Leu23=)	PROC (L63S)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2906338	NM_000312.4(PROC):c.71-16C>A	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2904902	NM_000312.4(PROC):c.400+9G>A	PROC (E165K +2 more)	Single nucleotide variant (missense variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2904392	NM_000312.4(PROC):c.1278T>C (p.Cys426=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2901965	NM_000312.4(PROC):c.70+10C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2899634	NM_000312.4(PROC):c.250T>C (p.Ser84Pro)	PROC (S105P +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2893446	NM_000312.4(PROC):c.452G>T (p.Cys151Phe)	PROC (C185F +8 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2886802	NM_000312.4(PROC):c.535+10C>A	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2884892	NM_000312.4(PROC):c.1249G>C (p.Val417Leu)	PROC (V409L +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2883556	NM_000312.4(PROC):c.1249G>A (p.Val417Met)	PROC (V409M +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2875261	NM_000312.4(PROC):c.1117T>A (p.Cys373Ser)	PROC (C354S +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2863255	NM_000312.4(PROC):c.90C>T (p.Ser30=)	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2803293	NM_000312.4(PROC):c.567G>A (p.Arg189=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2791978	NM_000312.4(PROC):c.71-16C>G	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2775426	NM_000312.4(PROC):c.1265G>A (p.Trp422Ter)	PROC (W403* +9 more)	Single nucleotide variant (nonsense)	Hereditary thrombophilia due to congenital protein C deficiency	GLikely pathogenic
Select item 2768041	NM_000312.4(PROC):c.635T>C (p.Leu212Pro)	PROC (L210P +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2766701	NM_000312.4(PROC):c.20T>C (p.Leu7Pro)	PROC (L28P +3 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2762736	NM_000312.4(PROC):c.536-19C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2751145	NM_000312.4(PROC):c.746T>C (p.Leu249Pro)	PROC (L241P +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2749289	NM_000312.4(PROC):c.1307C>T (p.Thr436Ile)	PROC (T470I +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2745397	NM_000312.4(PROC):c.236C>G (p.Thr79Arg)	PROC (T100R +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2734267	NM_000312.4(PROC):c.1142T>C (p.Val381Ala)	PROC (V415A +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2734266	NM_000312.4(PROC):c.400+5G>T	PROC (E135D +3 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2734265	NM_000312.4(PROC):c.319G>A (p.Gly107Arg)	PROC (G135R +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2734264	NM_000312.4(PROC):c.208A>G (p.Lys70Glu)	PROC (K70E +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2730329	NM_000312.4(PROC):c.679-13C>A	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2724455	NM_000312.4(PROC):c.198C>T (p.Phe66=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2721457	NM_000312.4(PROC):c.901G>A (p.Ala301Thr)	PROC (A282T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2714995	NC_000002.12:g.127418412T>C	PROC	Single nucleotide variant	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2712462	NM_000312.4(PROC):c.400+19T>G	PROC (M140R +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2700349	NM_000312.4(PROC):c.6G>A (p.Trp2Ter)	PROC (W2* +3 more)	Single nucleotide variant (nonsense +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2695825	NM_000312.4(PROC):c.441C>T (p.Cys147=)	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2683972	NM_000312.4(PROC):c.1005G>C (p.Gln335His)	PROC (Q316H +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683970	NM_000312.4(PROC):c.382G>C (p.Gly128Arg)	PROC (G120R +6 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683966	NM_000312.4(PROC):c.989T>C (p.Leu330Pro)	PROC (L311P +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683256	NM_000312.4(PROC):c.1298G>A (p.Gly433Asp)	PROC (G414D +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2682747	NM_000312.4(PROC):c.627T>A (p.Asp209Glu)	PROC (D190E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682746	NM_000312.4(PROC):c.389T>C (p.Phe130Ser)	PROC (F122S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651331	NM_000312.4(PROC):c.400+29C>G	PROC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637580	NM_000312.4(PROC):c.487G>T (p.Ala163Ser)	PROC (A144S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637220	NM_000312.4(PROC):c.679-2A>G	PROC	Single nucleotide variant (splice acceptor variant)	PROC-related disorder	GLikely pathogenic
Select item 2634733	NM_000312.4(PROC):c.432_435delinsA (p.Asn144_Gly145delinsLys)	PROC	Indel (inframe_indel +1 more)	PROC-related disorder	GUncertain significance
Select item 2634133	NM_000312.4(PROC):c.425T>C (p.Leu142Pro)	PROC (L134P +8 more)	Single nucleotide variant (missense variant +1 more)	PROC-related disorder	GUncertain significance
Select item 2627076	NM_000312.4(PROC):c.980A>T (p.Glu327Val)	PROC (E308V +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2617567	NM_000312.4(PROC):c.301T>G (p.Cys101Gly)	PROC (C101G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585632	NM_000312.4(PROC):c.797G>A (p.Gly266Glu)	PROC (G247E +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2577707	NM_000312.4(PROC):c.1207G>A (p.Gly403Arg)	PROC (G384R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573786	NM_000312.4(PROC):c.1262G>A (p.Ser421Asn)	PROC (S402N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572142	NM_000312.4(PROC):c.1048A>G (p.Lys350Glu)	PROC (K331E +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2572123	NM_000312.4(PROC):c.1222G>A (p.Ala408Thr)	PROC (A389T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2506179	NM_000312.4(PROC):c.487G>C (p.Ala163Pro)	PROC (A144P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444294	NM_000312.4(PROC):c.446A>G (p.His149Arg)	PROC (H141R +8 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2429142	NM_000312.4(PROC):c.1277G>A (p.Cys426Tyr)	PROC (C407Y +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422857	NC_000002.11:g.(?_128176278)_(128177573_?)del	PROC	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
Select item 2203148	NM_000312.4(PROC):c.965A>G (p.Asp322Gly)	PROC (D303G +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2203147	NM_000312.4(PROC):c.907_908del (p.Leu303fs)	PROC (L284fs +9 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2203145	NM_000312.4(PROC):c.790A>G (p.Arg264Gly)	PROC (R245G +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2203144	NM_000312.4(PROC):c.560G>A (p.Trp187Ter)	PROC (W185* +9 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2203143	NM_000312.4(PROC):c.262+6T>G	PROC (C111G)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2201821	NM_000312.4(PROC):c.164T>C (p.Leu55Pro)	PROC (L53P +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2201030	NM_000312.4(PROC):c.1180C>T (p.Arg394Trp)	PROC (R392W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2173988	NM_000312.4(PROC):c.468C>G (p.Gly156=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2172955	NM_000312.4(PROC):c.346G>C (p.Gly116Arg)	PROC (G116R +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2169394	NM_000312.4(PROC):c.144G>A (p.Glu48=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2159349	NM_000312.4(PROC):c.997G>A (p.Ala333Thr)	PROC (A333T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2154331	NM_000312.4(PROC):c.483C>T (p.Ser161=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2153469	NM_000312.4(PROC):c.815G>A (p.Arg272His)	PROC (R334H +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2153296	NM_000312.4(PROC):c.699G>T (p.Lys233Asn)	PROC (K214N +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2147257	NM_000312.4(PROC):c.1196A>C (p.Glu399Ala)	PROC (E380A +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance

<< First< Prev

Page of 5