C5197805[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 88675	NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD (E1021K +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 570920	NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)	CSF3R (W547*)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases +4 more	GPathogenic/Likely pathogenic
Select item 827702	NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)	CXCR4 (L317fs +4 more)	Deletion (frameshift variant)	WHIM syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 827739	NM_007315.4(STAT1):c.2159C>T (p.Thr720Ile)	STAT1 (T720I)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 144006	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	STAT1 (T385M +9 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +17 more	GPathogenic
Select item 827742	NM_007315.4(STAT1):c.859T>G (p.Tyr287Asp)	STAT1 (Y287D +4 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827741	NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)	STAT1 (E284K +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +3 more	GConflicting classifications of pathogenicity
Select item 827740	NM_007315.4(STAT1):c.839T>G (p.Leu280Trp)	STAT1 (L280W +4 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 30088	NM_007315.4(STAT1):c.520T>C (p.Cys174Arg)	STAT1 (C174R +3 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827738	NM_007315.4(STAT1):c.209G>C (p.Arg70Pro)	STAT1 (R70P +2 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827698	NC_000002.12:g.203867482_203869297del	CTLA4	Deletion	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827699	NC_000002.12:g.203870597_203875386del	LOC129935461, LOC129935462 +1 more	Deletion	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827700	NM_005214.5(CTLA4):c.127C>G (p.Pro43Ala)	CTLA4 (P43A)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 811325	NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	CTLA4 (R70Q)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 827701	NM_005214.5(CTLA4):c.410C>G (p.Pro137Arg)	CTLA4 (P137R)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 663980	NM_012092.4(ICOS):c.58+1G>A	ICOS	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +1 more	GLikely pathogenic
Select item 827707	NM_012092.4(ICOS):c.356T>C (p.Phe119Ser)	ICOS (F119S)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +1 more	GConflicting classifications of pathogenicity
Select item 827736	NM_014140.4(SMARCAL1):c.1146_1147+2del	SMARCAL1	Deletion (splice donor variant)	Schimke immuno-osseous dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 632064	NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	SMARCAL1 (T705I)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +4 more	GConflicting classifications of pathogenicity
Select item 827737	NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)	SMARCAL1 (R820H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 827725	NM_003998.4(NFKB1):c.160-1G>A	NFKB1	Single nucleotide variant (splice acceptor variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827728	NM_003998.4(NFKB1):c.187del (p.Glu63fs)	NFKB1 (E62fs +1 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827729	NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter)	NFKB1 (Q99* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 636471	NM_003998.4(NFKB1):c.835+2T>C	NFKB1	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +1 more	GLikely pathogenic
Select item 827726	NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)	NFKB1 (R283* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 12 +3 more	GPathogenic/Likely pathogenic
Select item 430907	NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	NFKB1 (S302fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 827722	NM_003998.4(NFKB1):c.1005del (p.Arg336fs)	NFKB1 (R335fs +1 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827723	NM_003998.4(NFKB1):c.1423del (p.Ala475fs)	NFKB1 (A475fs +1 more)	Deletion (frameshift variant)	Common variable immunodeficiency +1 more	GPathogenic
Select item 827724	NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)	NFKB1 (H512fs +2 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827727	NM_003998.4(NFKB1):c.1621_1622del (p.Gln540_Asp541insTer)	NFKB1	Deletion (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827718	NM_001364905.1(LRBA):c.8422G>T (p.Gly2808Ter)	LRBA (G2807* +3 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827717	NM_001364905.1(LRBA):c.4522C>T (p.Gln1508Ter)	LRBA (Q1508*)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827716	NM_001364905.1(LRBA):c.2258+3dup	LRBA	Duplication (intron variant)	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827711	NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)	LRBA (R633*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency +1 more	GConflicting classifications of pathogenicity
Select item 827748	NM_198253.3(TERT):c.1381G>T (p.Val461Leu)	TERT (V461L)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827732	NM_181523.3(PIK3R1):c.1300-2A>G	PIK3R1	Single nucleotide variant (splice acceptor variant)	SHORT syndrome +3 more	GLikely pathogenic
Select item 827733	NM_181523.3(PIK3R1):c.1422_1425+1del	PIK3R1	Deletion (splice donor variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 372467	NM_181523.3(PIK3R1):c.1425+1G>A	PIK3R1	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +6 more	GPathogenic/Likely pathogenic
Select item 827751	NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)	SKIC3 (R1209*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 827750	NM_014639.4(SKIC3):c.1757+1G>A	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1 +1 more	GLikely pathogenic
Select item 208588	NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)	IFNGR1 (Y134fs +2 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases +3 more	GPathogenic
Select item 827709	NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser)	IKZF1 (N159S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 827710	NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp)	IKZF1 (R75W +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases +1 more	GConflicting classifications of pathogenicity
Select item 224780	NM_006060.6(IKZF1):c.500A>G (p.His167Arg)	IKZF1 (H167R +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827712	NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp)	IKZF1 (R184W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 827713	NM_006060.6(IKZF1):c.565A>G (p.Thr189Ala)	IKZF1 (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827708	NM_006060.6(IKZF1):c.1401C>G (p.Cys467Trp)	IKZF1 (C237W +10 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827685	NM_005720.4(ARPC1B):c.490_491insCC (p.Phe164fs)	ARPC1B (F164fs)	Insertion (frameshift variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827704	NM_203447.4(DOCK8):c.3438_3439del (p.Met1146fs)	DOCK8 (M1146fs +2 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827705	NM_203447.4(DOCK8):c.6071G>A (p.Cys2024Tyr)	DOCK8 (C1924Y +2 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827689	NM_052813.5(CARD9):c.638del (p.Leu213fs)	CARD9 (L213fs)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 802620	NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	FAS (R250* +1 more)	Single nucleotide variant (nonsense +2 more)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 827730	NM_001322934.2(NFKB2):c.1469+1G>T	NFKB2	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +1 more	GPathogenic
Select item 827731	NM_001322934.2(NFKB2):c.1903C>T (p.Arg635Ter)	NFKB2 (R593* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 65385	NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)	NFKB2, PSD (R853* +1 more)	Single nucleotide variant (nonsense)	not specified +4 more	GPathogenic
Select item 813566	NM_000448.3(RAG1):c.334C>T (p.Arg112Cys)	RAG1 (R112C)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 13149	NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	RAG1 (R737H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic/Likely pathogenic
Select item 827749	NM_001099274.3(TINF2):c.1061+1G>T	TINF2 (E354D)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases +1 more	GUncertain significance
Select item 14004	NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)	LOC130055497, NFKBIA (W11*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GConflicting classifications of pathogenicity
Select item 827692	NM_001770.6(CD19):c.274G>T (p.Gly92Trp)	CD19 (G92W)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827693	NM_001770.6(CD19):c.321G>A (p.Trp107Ter)	CD19 (W107*)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 583095	NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)	IRF8	Duplication (frameshift variant +1 more)	Immunodeficiency 32B +3 more	GConflicting classifications of pathogenicity
Select item 421171	NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	STAT3 (P715L +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +5 more	GPathogenic/Likely pathogenic
Select item 827745	NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu)	STAT3 (K707E +1 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +2 more	GConflicting classifications of pathogenicity
Select item 18305	NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)	STAT3 (R382Q +4 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +3 more	GPathogenic
Select item 827744	NM_139276.3(STAT3):c.986T>G (p.Met329Arg)	STAT3 (M329R)	Single nucleotide variant (missense variant)	STAT3 gain of function +3 more	GConflicting classifications of pathogenicity
Select item 827746	NM_139276.3(STAT3):c.870A>T (p.Lys290Asn)	STAT3 (K290N)	Single nucleotide variant (missense variant)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 827743	NM_139276.3(STAT3):c.812C>T (p.Ala271Val)	STAT3 (A271V)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GUncertain significance
Select item 827706	NM_138387.4(G6PC3):c.911dup (p.Gln305fs)	G6PC3 (Q305fs +1 more)	Duplication (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more	GPathogenic
Select item 827715	NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter)	IL12RB1 (S361* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases +1 more	GPathogenic
Select item 827714	NM_005535.3(IL12RB1):c.518G>C (p.Arg173Pro)	IL12RB1 (R213P +1 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +1 more	GConflicting classifications of pathogenicity
Select item 827735	NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)	RFXANK (L172P +3 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827697	NM_001783.4(CD79A):c.323T>G (p.Val108Gly)	CD79A (V108G)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 37323	NM_006282.5(STK4):c.349C>T (p.Arg117Ter)	STK4 (R117*)	Single nucleotide variant (nonsense)	STK4-related disorder +2 more	GPathogenic
Select item 551136	NM_000383.4(AIRE):c.1A>G (p.Met1Val)	AIRE (M1V)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 827684	NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	ADA2 (N129K +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 120303	NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	ADA2 (R169Q +2 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +4 more	GPathogenic/Likely pathogenic
Select item 827754	Single allele	USP41, ZDHHC8 +46 more	Deletion	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 471946	NM_001367916.1(MAGT1):c.992+1G>A	MAGT1	Single nucleotide variant (splice donor variant)	Inherited Immunodeficiency Diseases +2 more	GConflicting classifications of pathogenicity
Select item 827688	NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr)	BTK (C351Y +2 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827690	NM_000061.3(BTK):c.837T>A (p.Tyr279Ter)	BTK (Y279* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827691	NM_000061.3(BTK):c.764G>A (p.Arg255Gln)	BTK (R289Q +1 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 632730	NM_000061.3(BTK):c.240G>A (p.Pro80=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia +2 more	GConflicting classifications of pathogenicity
Select item 11345	NM_000061.3(BTK):c.43C>T (p.Gln15Ter)	BTK (Q15* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases +2 more	GPathogenic/Likely pathogenic
Select item 827703	NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln)	DKC1 (R444Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inherited Immunodeficiency Diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85