ClinVar for Gene (Select 10892) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292739	NM_006785.4(MALT1):c.1859A>G (p.Tyr620Cys)	MALT1 (Y620C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257369	NM_006785.4(MALT1):c.2284C>G (p.His762Asp)	MALT1 (H751D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242783	NC_000018.9:g.(?_56383147)_(56415074_?)dup	MALT1	Duplication	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 3235043	NM_006785.4(MALT1):c.2459_2469delinsTAATTTCTGTC (p.Arg820_Glu823delinsIleIleSerVal)	MALT1	Indel (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 3122332	NM_006785.4(MALT1):c.901A>G (p.Ser301Gly)	MALT1 (S301G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122331	NM_006785.4(MALT1):c.579T>G (p.Asn193Lys)	MALT1 (N193K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122330	NM_006785.4(MALT1):c.335C>A (p.Ala112Asp)	MALT1 (A112D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122329	NM_006785.4(MALT1):c.2332C>G (p.His778Asp)	MALT1 (H767D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122328	NM_006785.4(MALT1):c.1102G>A (p.Glu368Lys)	MALT1 (E357K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068697	NM_006785.4(MALT1):c.692T>C (p.Val231Ala)	MALT1 (V231A)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 3065499	NM_006785.4(MALT1):c.1733T>C (p.Leu578Pro)	MALT1 (L567P +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 3064207	NM_006785.4(MALT1):c.2155C>T (p.Arg719Ter)	MALT1 (R708* +1 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3059852	NM_006785.4(MALT1):c.377-3del	MALT1	Deletion (intron variant)	MALT1-related disorder	GBenign
Select item 3022100	NM_006785.4(MALT1):c.1008C>T (p.Asp336=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 3021077	NM_006785.4(MALT1):c.1222+15A>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 3014581	NM_006785.4(MALT1):c.696A>G (p.Glu232=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 3008082	NM_006785.4(MALT1):c.1401-26_1401-17del	MALT1	Deletion (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 3000777	NM_006785.4(MALT1):c.498+10dup	MALT1	Duplication (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GBenign
Select item 2995523	NM_006785.4(MALT1):c.377-16T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2990514	NM_006785.4(MALT1):c.702T>C (p.Thr234=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2985725	NM_006785.4(MALT1):c.2133C>T (p.Leu711=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2978091	NM_006785.4(MALT1):c.97C>T (p.Leu33=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2975772	NM_006785.4(MALT1):c.1977A>T (p.Val659=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2971959	NM_006785.4(MALT1):c.1476-4dup	MALT1	Duplication (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GBenign
Select item 2967965	NM_006785.4(MALT1):c.471A>G (p.Gln157=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2958391	NM_006785.4(MALT1):c.1428C>T (p.Ile476=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2958377	NM_006785.4(MALT1):c.1041G>A (p.Leu347=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2954570	NM_006785.4(MALT1):c.938A>G (p.Glu313Gly)	MALT1 (E313G)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2911585	NM_006785.4(MALT1):c.1296T>C (p.Asn432=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2895597	NM_006785.4(MALT1):c.87C>T (p.Thr29=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2894405	NM_006785.4(MALT1):c.1754-14T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2892151	NM_006785.4(MALT1):c.1476-20C>T	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2888009	NM_006785.4(MALT1):c.366C>T (p.Leu122=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2883471	NM_006785.4(MALT1):c.1223-17A>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2878868	NM_006785.4(MALT1):c.2038-8C>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2863727	NM_006785.4(MALT1):c.1603+13del	MALT1	Deletion (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GBenign
Select item 2863299	NM_006785.4(MALT1):c.1551_1554del (p.Arg518fs)	MALT1 (R507fs +1 more)	Deletion (frameshift variant)	Combined immunodeficiency due to MALT1 deficiency	GPathogenic
Select item 2860559	NM_006785.4(MALT1):c.1635A>G (p.Lys545=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2853331	NM_006785.4(MALT1):c.594del (p.Phe198fs)	MALT1 (F198fs)	Deletion (frameshift variant)	Combined immunodeficiency due to MALT1 deficiency	GPathogenic
Select item 2849918	NM_006785.4(MALT1):c.1662A>G (p.Leu554=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2845157	NM_006785.4(MALT1):c.925+16C>T	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2843797	NM_006785.4(MALT1):c.377-6T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2838393	NM_006785.4(MALT1):c.1604-7C>A	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2809179	NM_006785.4(MALT1):c.1965C>G (p.Gly655=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2807603	NM_006785.4(MALT1):c.1223-18T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2797070	NM_006785.4(MALT1):c.1911+1G>T	MALT1	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely pathogenic
Select item 2753567	NM_006785.4(MALT1):c.687C>A (p.Ile229=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2731466	NM_006785.4(MALT1):c.829-20A>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2716317	NM_006785.4(MALT1):c.1059C>T (p.Tyr353=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2715661	NM_006785.4(MALT1):c.192C>G (p.Arg64=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2714560	NM_006785.4(MALT1):c.209+15G>A	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2708403	NM_006785.4(MALT1):c.209+14C>G	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2707390	NM_006785.4(MALT1):c.78C>T (p.Ala26=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2571019	NM_006785.4(MALT1):c.1651C>T (p.Arg551Ter)	MALT1 (R540* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2559008	NM_006785.4(MALT1):c.589A>G (p.Thr197Ala)	MALT1 (T197A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549414	NM_006785.4(MALT1):c.2416G>C (p.Glu806Gln)	MALT1 (E795Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548543	NM_006785.4(MALT1):c.841G>T (p.Asp281Tyr)	MALT1 (D281Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547470	NM_006785.4(MALT1):c.1311A>C (p.Glu437Asp)	MALT1 (E437D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529607	NM_006785.4(MALT1):c.2174C>G (p.Thr725Ser)	MALT1 (T714S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506541	GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)	GRP, MALT1 +10 more	Copy number loss	Cholestasis	GPathogenic
Select item 2504927	NM_006785.4(MALT1):c.1240G>A (p.Gly414Arg)	MALT1 (G403R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425868	NC_000018.9:g.(?_55217944)_(58040587_?)del	ALPK2, ATP8B1 +14 more	Deletion	Isolated microphthalmia 3	GPathogenic
Select item 2425645	NC_000018.9:g.(?_55217944)_(58039582_?)dup	ALPK2, ATP8B1 +14 more	Duplication	not provided	GUncertain significance
Select item 2422120	NM_006785.4(MALT1):c.829G>A (p.Val277Met)	MALT1 (V277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2421910	NM_006785.4(MALT1):c.2038-17del	MALT1	Deletion (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2420124	NM_006785.4(MALT1):c.819G>A (p.Lys273=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2396024	NM_006785.4(MALT1):c.1673G>A (p.Arg558Lys)	MALT1 (R547K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358350	NM_006785.4(MALT1):c.1175G>A (p.Arg392His)	MALT1 (R381H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334645	NM_006785.4(MALT1):c.2441G>A (p.Ser814Asn)	MALT1 (S803N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253234	NM_006785.4(MALT1):c.1568A>G (p.Lys523Arg)	MALT1 (K523R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202587	NM_006785.4(MALT1):c.1753+15A>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2200919	NM_006785.4(MALT1):c.958+17G>A	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2198673	NM_006785.4(MALT1):c.1019-6dup	MALT1	Duplication (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GBenign
Select item 2197644	NM_006785.4(MALT1):c.1060C>T (p.Arg354Trp)	MALT1 (R343W +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2196628	NM_006785.4(MALT1):c.377-15_377-3del	MALT1	Deletion (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2193822	NM_006785.4(MALT1):c.2325T>C (p.Asp775=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2168336	NM_006785.4(MALT1):c.82G>T (p.Ala28Ser)	LOC130062586, MALT1 +1 more (A28S)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2166760	NM_006785.4(MALT1):c.1754-20T>A	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2165781	NM_006785.4(MALT1):c.2059T>A (p.Cys687Ser)	MALT1 (C676S +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2164336	NM_006785.4(MALT1):c.1184T>C (p.Val395Ala)	MALT1 (V395A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161826	NM_006785.4(MALT1):c.985+6T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2159641	NM_006785.4(MALT1):c.1603+16A>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2156826	NM_006785.4(MALT1):c.2037+7A>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2155155	NM_006785.4(MALT1):c.1401-17C>T	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2150827	NM_006785.4(MALT1):c.542A>G (p.His181Arg)	MALT1 (H181R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2149199	NM_006785.4(MALT1):c.1993A>G (p.Lys665Glu)	MALT1 (K665E +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency +1 more	GUncertain significance
Select item 2145782	NM_006785.4(MALT1):c.864C>T (p.Tyr288=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2132681	NM_006785.4(MALT1):c.1903T>C (p.Phe635Leu)	MALT1 (F635L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2127814	NM_006785.4(MALT1):c.23T>C (p.Leu8Pro)	LOC130062586, MALT1 +1 more (L8P)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2124119	NM_006785.4(MALT1):c.2073G>A (p.Gln691=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2119955	NM_006785.4(MALT1):c.1310A>G (p.Glu437Gly)	MALT1 (E437G +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2118785	NM_006785.4(MALT1):c.209+20A>G	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2118511	NM_006785.4(MALT1):c.2085G>A (p.Leu695=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2116558	NM_006785.4(MALT1):c.210-20A>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2112711	NM_006785.4(MALT1):c.1726C>T (p.Arg576Trp)	MALT1 (R576W +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2108345	NM_006785.4(MALT1):c.1136A>C (p.Lys379Thr)	MALT1 (K379T +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2107997	NM_006785.4(MALT1):c.135G>C (p.Leu45=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 2107843	NM_006785.4(MALT1):c.2310T>C (p.Asn770=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign

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