ClinVar for Gene (Select 8737) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314512	NM_001354930.2(RIPK1):c.1127G>A (p.Ser376Asn)	RIPK1 (S330N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246173	NC_000006.11:g.(?_2833842)_(3089911_?)dup	NQO2, RIPK1 +3 more	Duplication	not provided	GUncertain significance
Select item 3246172	NC_000006.11:g.(?_3083299)_(3106305_?)del	RIPK1	Deletion	not provided	GPathogenic
Select item 3246171	NC_000006.11:g.(?_3085473)_(3085662_?)del	RIPK1	Deletion	not provided	GUncertain significance
Select item 3246170	NC_000006.11:g.(?_3081193)_(3081370_?)del	RIPK1	Deletion	not provided	GLikely pathogenic
Select item 3154518	NM_001354930.2(RIPK1):c.898G>A (p.Asp300Asn)	RIPK1 (D254N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154517	NM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys)	RIPK1 (E252K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154516	NM_001354930.2(RIPK1):c.1691T>G (p.Phe564Cys)	RIPK1 (F518C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154515	NM_001354930.2(RIPK1):c.140T>C (p.Val47Ala)	RIPK1 (V47A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064840	NM_001354930.2(RIPK1):c.175G>C (p.Ala59Pro)	RIPK1 (A59P)	Single nucleotide variant (5 prime UTR variant +1 more)	Autoinflammation with episodic fever and lymphadenopathy	GLikely benign
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3061239	NM_001354930.2(RIPK1):c.82_84delinsCTC (p.Phe28Leu)	RIPK1 (F28L)	Indel (5 prime UTR variant +1 more)	RIPK1-related disorder	GUncertain significance
Select item 3030758	NM_001354930.2(RIPK1):c.1663T>C (p.Ser555Pro)	RIPK1 (S392P +2 more)	Single nucleotide variant (missense variant)	RIPK1-related disorder	GUncertain significance
Select item 3020350	NM_001354930.2(RIPK1):c.753C>T (p.Asp251=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016977	NM_001354930.2(RIPK1):c.1168C>T (p.Arg390Cys)	RIPK1 (R390C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015913	NM_001354930.2(RIPK1):c.760G>C (p.Glu254Gln)	RIPK1 (E254Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015912	NM_001354930.2(RIPK1):c.600C>T (p.Asp200=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010383	NM_001354930.2(RIPK1):c.1453G>C (p.Gly485Arg)	RIPK1 (G439R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009515	NM_001354930.2(RIPK1):c.321+13C>G	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009179	NM_001354930.2(RIPK1):c.291G>A (p.Lys97=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008670	NM_001354930.2(RIPK1):c.1978G>A (p.Asp660Asn)	RIPK1 (D497N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008050	NM_001354930.2(RIPK1):c.679C>A (p.Pro227Thr)	RIPK1 (P64T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006988	NM_001354930.2(RIPK1):c.1274C>T (p.Pro425Leu)	RIPK1 (P425L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006438	NM_001354930.2(RIPK1):c.546C>G (p.Thr182=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006220	NM_001354930.2(RIPK1):c.1701G>C (p.Glu567Asp)	RIPK1 (E567D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004241	NM_001354930.2(RIPK1):c.1322G>T (p.Ser441Ile)	RIPK1 (S278I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002185	NM_001354930.2(RIPK1):c.310C>T (p.Leu104=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3001951	NM_001354930.2(RIPK1):c.321+19_321+22dup	RIPK1	Duplication (intron variant)	not provided	GLikely benign
Select item 3000263	NM_001354930.2(RIPK1):c.1529A>G (p.Tyr510Cys)	RIPK1 (Y347C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000225	NM_001354930.2(RIPK1):c.410A>G (p.Lys137Arg)	RIPK1 (K137R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2998183	NM_001354930.2(RIPK1):c.876A>G (p.Gln292=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2995509	NM_001354930.2(RIPK1):c.1548C>T (p.Thr516=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995096	NM_001354930.2(RIPK1):c.1341T>C (p.Asn447=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993878	NM_001354930.2(RIPK1):c.1935G>T (p.Thr645=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991713	NM_001354930.2(RIPK1):c.750T>C (p.Asp250=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987256	NM_001354930.2(RIPK1):c.321+17C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983351	NM_001354930.2(RIPK1):c.1861C>T (p.Arg621Ter)	RIPK1 (R458* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2980626	NM_001354930.2(RIPK1):c.95C>T (p.Ser32Phe)	RIPK1 (S32F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2980227	NM_001354930.2(RIPK1):c.960T>C (p.Ser320=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970659	NM_001354930.2(RIPK1):c.1361G>A (p.Gly454Glu)	RIPK1 (G408E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969114	NM_001354930.2(RIPK1):c.695T>C (p.Ile232Thr)	RIPK1 (I232T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965471	NM_001354930.2(RIPK1):c.1501C>T (p.His501Tyr)	RIPK1 (H338Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961486	NM_001354930.2(RIPK1):c.1674C>G (p.Asp558Glu)	RIPK1 (D395E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959309	NM_001354930.2(RIPK1):c.1686G>A (p.Thr562=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912440	NM_001354930.2(RIPK1):c.541G>A (p.Gly181Ser)	RIPK1 (G135S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909725	NM_001354930.2(RIPK1):c.289A>G (p.Lys97Glu)	RIPK1 (K97E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2909356	NM_001354930.2(RIPK1):c.1272A>G (p.Arg424=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908724	NM_001354930.2(RIPK1):c.317C>T (p.Ala106Val)	RIPK1 (A106V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2906803	NM_001354930.2(RIPK1):c.1609A>G (p.Thr537Ala)	RIPK1 (T374A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901722	NM_001354930.2(RIPK1):c.1145C>G (p.Ala382Gly)	RIPK1 (A382G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893552	NM_001354930.2(RIPK1):c.1956G>A (p.Ala652=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891039	NM_001354930.2(RIPK1):c.267C>T (p.Ser89=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2889209	NM_001354930.2(RIPK1):c.396A>C (p.Lys132Asn)	RIPK1 (K132N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2888299	NM_001354930.2(RIPK1):c.1599A>G (p.Ile533Met)	RIPK1 (I487M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886190	NM_001354930.2(RIPK1):c.1238G>A (p.Arg413His)	RIPK1 (R250H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886032	NM_001354930.2(RIPK1):c.908G>C (p.Ser303Thr)	RIPK1 (S140T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881991	NM_001354930.2(RIPK1):c.796C>G (p.Leu266Val)	RIPK1 (L103V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873633	NM_001354930.2(RIPK1):c.1068G>A (p.Glu356=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872378	NM_001354930.2(RIPK1):c.460-17del	RIPK1	Deletion (intron variant)	not provided	GLikely benign
Select item 2868074	NM_001354930.2(RIPK1):c.824G>A (p.Arg275Gln)	RIPK1 (R112Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866481	NM_001354930.2(RIPK1):c.321+20A>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866413	NM_001354930.2(RIPK1):c.707A>C (p.Gln236Pro)	RIPK1 (Q190P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860665	NM_001354930.2(RIPK1):c.1022G>A (p.Gly341Asp)	RIPK1 (G178D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860373	NM_001354930.2(RIPK1):c.1690T>C (p.Phe564Leu)	RIPK1 (F518L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858656	NM_001354930.2(RIPK1):c.1542dup (p.Pro515fs)	RIPK1 (P515fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2852685	NM_001354930.2(RIPK1):c.237G>A (p.Leu79=)	RIPK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2844468	NM_001354930.2(RIPK1):c.226G>A (p.Val76Met)	RIPK1 (V76M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2841383	NM_001354930.2(RIPK1):c.459+10C>G	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829649	NM_001354930.2(RIPK1):c.764A>G (p.Tyr255Cys)	RIPK1 (Y92C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827841	NM_001354930.2(RIPK1):c.915+9T>C	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825485	NM_001354930.2(RIPK1):c.392G>A (p.Gly131Glu)	RIPK1 (G131E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2822654	NM_001354930.2(RIPK1):c.569_585del (p.Leu190fs)	RIPK1 (L27fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2821798	NM_001354930.2(RIPK1):c.929A>G (p.Asn310Ser)	RIPK1 (N310S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819307	NM_001354930.2(RIPK1):c.1818C>T (p.Gly606=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815430	NM_001354930.2(RIPK1):c.1250A>G (p.His417Arg)	RIPK1 (H371R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814898	NM_001354930.2(RIPK1):c.1577-5T>A	RIPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2813881	NM_001354930.2(RIPK1):c.165-6C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813451	NM_001354930.2(RIPK1):c.322-4T>C	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812890	NM_001354930.2(RIPK1):c.839-17A>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812406	NM_001354930.2(RIPK1):c.1551G>A (p.Met517Ile)	RIPK1 (M354I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812259	NM_001354930.2(RIPK1):c.322-10C>A	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810728	NM_001354930.2(RIPK1):c.498C>T (p.Ser166=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810139	NM_001354930.2(RIPK1):c.1122_1123delinsAA (p.Gln375Lys)	RIPK1 (Q212K +2 more)	Indel (missense variant)	Immunodeficiency 57 +1 more	GUncertain significance
Select item 2809856	NM_001354930.2(RIPK1):c.915+1G>A	RIPK1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2804510	NM_001354930.2(RIPK1):c.1482A>C (p.Pro494=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801116	NM_001354930.2(RIPK1):c.1849C>T (p.His617Tyr)	RIPK1 (H454Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795285	NM_001354930.2(RIPK1):c.1471A>G (p.Arg491Gly)	RIPK1 (R445G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782302	NM_001354930.2(RIPK1):c.973T>C (p.Cys325Arg)	RIPK1 (C162R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776503	NM_001354930.2(RIPK1):c.419A>T (p.Lys140Met)	RIPK1 (K140M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2766174	NM_001354930.2(RIPK1):c.438T>C (p.Val146=)	RIPK1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2755172	NM_001354930.2(RIPK1):c.321+12C>T	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749530	NM_001354930.2(RIPK1):c.1730-11C>A	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737661	NM_001354930.2(RIPK1):c.607G>A (p.Ala203Thr)	RIPK1 (A203T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737644	NM_001354930.2(RIPK1):c.201G>T (p.Met67Ile)	RIPK1 (M67I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2735946	NM_001354930.2(RIPK1):c.1498C>T (p.Leu500=)	RIPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718605	NM_001354930.2(RIPK1):c.1858G>A (p.Glu620Lys)	RIPK1 (E457K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717986	NM_001354930.2(RIPK1):c.1577-18G>C	RIPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713178	NM_001354930.2(RIPK1):c.1544C>T (p.Pro515Leu)	RIPK1 (P515L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711256	NM_001354930.2(RIPK1):c.488A>T (p.Lys163Met)	RIPK1 (K117M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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