ClinVar for Gene (Select 727) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351611	NM_001735.3(C5):c.851A>C (p.Gln284Pro)	C5 (Q284P +1 more)	Single nucleotide variant (missense variant)	C5-related disorder	GUncertain significance
Select item 3262526	NM_001735.3(C5):c.3239C>T (p.Ala1080Val)	C5 (A1080V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262524	NM_001735.3(C5):c.3468C>A (p.Phe1156Leu)	C5 (F1162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262523	NM_001735.3(C5):c.2674T>A (p.Ser892Thr)	C5 (S898T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262522	NM_001735.3(C5):c.2291A>G (p.Glu764Gly)	C5 (E770G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262521	NM_001735.3(C5):c.1337A>C (p.Asn446Thr)	C5 (N452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245307	NC_000009.11:g.(?_123742341)_(123745112_?)del	C5	Deletion	not provided	GPathogenic
Select item 3245305	NC_000009.11:g.(?_123768177)_(123770796_?)del	C5	Deletion	not provided	GPathogenic
Select item 3136032	NM_001735.3(C5):c.823T>G (p.Leu275Val)	C5 (L275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136031	NM_001735.3(C5):c.4745T>C (p.Leu1582Pro)	C5 (L1582P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136030	NM_001735.3(C5):c.4555G>C (p.Val1519Leu)	C5 (V1525L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136029	NM_001735.3(C5):c.3772A>G (p.Ser1258Gly)	C5 (S1264G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136028	NM_001735.3(C5):c.359C>T (p.Thr120Ile)	C5 (T126I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136027	NM_001735.3(C5):c.2948T>A (p.Leu983His)	C5 (L989H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136026	NM_001735.3(C5):c.17T>G (p.Ile6Arg)	C5 (I6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136025	NM_001735.3(C5):c.178C>T (p.Pro60Ser)	C5 (P60S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136024	NM_001735.3(C5):c.1519G>A (p.Gly507Ser)	C5 (G513S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3060474	NM_001735.3(C5):c.2563-2285dup	C5	Duplication (intron variant)	C5-related disorder	GBenign
Select item 3015758	NM_001735.3(C5):c.26T>A (p.Phe9Tyr)	C5 (F9Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015757	NM_001735.3(C5):c.1190T>C (p.Val397Ala)	C5 (V397A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013540	NM_001735.3(C5):c.3391-10T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011386	NM_001735.3(C5):c.4505-12T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010225	NM_001735.3(C5):c.421+2T>C	C5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3001826	NM_001735.3(C5):c.1176A>G (p.Ala392=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998966	NM_001735.3(C5):c.2817T>C (p.Tyr939=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998264	NM_001735.3(C5):c.5004C>T (p.Ala1668=)	C5, C5-OT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997755	NM_001735.3(C5):c.3659-19G>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997456	NM_001735.3(C5):c.1869A>G (p.Val623=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997357	NM_001735.3(C5):c.3951C>T (p.Tyr1317=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996563	NM_001735.3(C5):c.2941+16C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995497	NM_001735.3(C5):c.2562+19T>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994739	NM_001735.3(C5):c.1996+13G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993766	NM_001735.3(C5):c.1234C>T (p.Arg412Cys)	C5 (R412C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992285	NM_001735.3(C5):c.1000+10_1000+11insTC	C5	Insertion (intron variant)	not provided	GLikely benign
Select item 2990559	NM_001735.3(C5):c.3059_3060del (p.Tyr1020fs)	C5 (Y1020fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2987179	NM_001735.3(C5):c.526G>T (p.Glu176Ter)	C5 (E182* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2986683	NM_001735.3(C5):c.2046G>A (p.Lys682=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986303	NM_001735.3(C5):c.4504+14T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983318	NM_001735.3(C5):c.3267A>G (p.Val1089=)	C5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2983119	NM_001735.3(C5):c.1680G>A (p.Trp560Ter)	C5 (W566* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2983083	NM_001735.3(C5):c.2852-18A>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982182	NM_001735.3(C5):c.2791-9T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981436	NM_001735.3(C5):c.4068G>A (p.Leu1356=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980455	NM_001735.3(C5):c.584+1G>A	C5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2977282	NM_001735.3(C5):c.2103T>C (p.Asp701=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977274	NM_001735.3(C5):c.1716+19G>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975435	NM_001735.3(C5):c.4110C>A (p.Thr1370=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975379	NM_001735.3(C5):c.258+13C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974114	NM_001735.3(C5):c.3482del (p.Leu1161fs)	C5 (L1161fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2973959	NM_001735.3(C5):c.4080+13T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971588	NM_001735.3(C5):c.4710A>G (p.Val1570=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971527	NM_001735.3(C5):c.2141G>A (p.Arg714Gln)	C5 (R720Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970597	NM_001735.3(C5):c.1997-11A>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969518	NM_001735.3(C5):c.3624T>C (p.Ile1208=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964786	NM_001735.3(C5):c.225A>G (p.Ser75=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963331	NM_001735.3(C5):c.2941+17C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960904	NM_001735.3(C5):c.4901+20C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958234	NM_001735.3(C5):c.2348+20T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908044	NM_001735.3(C5):c.4452A>G (p.Glu1484=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907774	NM_001735.3(C5):c.4220+7C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906886	NM_001735.3(C5):c.4017+7G>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898464	NM_001735.3(C5):c.3133C>T (p.Leu1045=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895345	NM_001735.3(C5):c.2563-9G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888124	NM_001735.3(C5):c.4324-8C>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887424	NM_001735.3(C5):c.1542G>A (p.Thr514=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886515	NM_001735.3(C5):c.4163-14_4163-10del	C5	Deletion (intron variant)	not provided	GLikely benign
Select item 2874077	NM_001735.3(C5):c.2865A>G (p.Arg955=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872404	NM_001735.3(C5):c.3589C>A (p.Leu1197Met)	C5 (L1197M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869963	NM_001735.3(C5):c.318T>C (p.Val106=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868860	NM_001735.3(C5):c.4589-18A>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866229	NM_001735.3(C5):c.1303-8C>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851277	NM_001735.3(C5):c.2484T>C (p.Asn828=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849765	NM_001735.3(C5):c.171A>C (p.Lys57Asn)	C5 (K63N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848688	NM_001735.3(C5):c.2563-9G>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847510	NM_001735.3(C5):c.3149A>G (p.Lys1050Arg)	C5 (K1056R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847186	NM_001735.3(C5):c.2894T>G (p.Leu965Ter)	C5 (L965* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2842625	NM_001735.3(C5):c.4901+19T>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841959	NM_001735.3(C5):c.3012C>T (p.Pro1004=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841003	NM_001735.3(C5):c.4763-13G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831671	NM_001735.3(C5):c.786G>A (p.Glu262=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829558	NM_001735.3(C5):c.4323+11del	C5	Deletion (intron variant)	not provided	GBenign
Select item 2828257	NM_001735.3(C5):c.181_182insGATATGAGATGAAGGTCTGAACTAAGTAGCAGTGGGGATGGAGAGCTGGGGAAAGATGTGAGACATTCCTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTATCCTG (p.Asp61delinsGlyTyrGluMetLysValTer)	C5	Insertion (nonsense)	not provided	GPathogenic
Select item 2825269	NM_001735.3(C5):c.3756C>T (p.Ala1252=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815626	NM_001735.3(C5):c.1000+5_1000+6insGCGTGT	C5	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2813893	NM_001735.3(C5):c.1084T>C (p.Phe362Leu)	C5 (F362L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811175	NM_001735.3(C5):c.1305C>A (p.Val435=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805981	NM_001735.3(C5):c.4286C>T (p.Pro1429Leu)	C5 (P1435L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805791	NM_001735.3(C5):c.4324-14C>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804352	NM_001735.3(C5):c.3658+8T>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798813	NM_001735.3(C5):c.3903A>G (p.Ser1301=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791245	NM_001735.3(C5):c.4641A>T (p.Thr1547=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789468	NM_001735.3(C5):c.4237del (p.Glu1413fs)	C5 (E1413fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2786354	NM_001735.3(C5):c.1117-19G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785872	NM_001735.3(C5):c.52G>T (p.Gly18Ter)	C5 (G18*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2782659	NM_001735.3(C5):c.3204G>A (p.Val1068=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781291	NM_001735.3(C5):c.873+18A>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781037	NM_001735.3(C5):c.15A>G (p.Gly5=)	C5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779280	NM_001735.3(C5):c.422-2A>G	C5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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