Related gene-specific medical variations for Gene (Select 10892) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242783	NC_000018.9:g.(?_56383147)_(56415074_?)dup	MALT1	Duplication	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 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 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 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 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 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 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 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 2102694	NM_006785.4(MALT1):c.41C>T (p.Ser14Leu)	LOC130062586, MALT1 +1 more (S14L)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2092842	NM_006785.4(MALT1):c.42G>C (p.Ser14=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1982540	NM_006785.4(MALT1):c.190C>T (p.Arg64Cys)	LOC130062586, MALT1 +1 more (R64C)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1972047	NM_006785.4(MALT1):c.56G>T (p.Gly19Val)	LOC130062586, MALT1 +1 more (G19V)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1941657	NM_006785.4(MALT1):c.45C>T (p.Ala15=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1694875	NM_006785.4(MALT1):c.30C>T (p.Ala10=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1643586	NM_006785.4(MALT1):c.60G>A (p.Pro20=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1627449	NM_006785.4(MALT1):c.132C>T (p.Leu44=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1530348	NM_006785.4(MALT1):c.36G>T (p.Pro12=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1510036	NM_006785.4(MALT1):c.143C>G (p.Ala48Gly)	LOC130062586, MALT1 +1 more (A48G)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1508323	NM_006785.4(MALT1):c.71C>T (p.Pro24Leu)	MALT1-AS1, LOC130062586 +1 more (P24L)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1483242	NM_006785.4(MALT1):c.88C>G (p.Leu30Val)	LOC130062586, MALT1 +1 more (L30V)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1475464	NM_006785.4(MALT1):c.49C>T (p.Pro17Ser)	LOC130062586, MALT1 +1 more (P17S)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1471182	NM_006785.4(MALT1):c.28G>A (p.Ala10Thr)	LOC130062586, MALT1 +1 more (A10T)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1411406	NM_006785.4(MALT1):c.209+4A>G	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1405759	NM_006785.4(MALT1):c.38C>T (p.Pro13Leu)	LOC130062586, MALT1 +1 more (P13L)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1343623	NM_006785.4(MALT1):c.92A>G (p.Asn31Ser)	LOC130062586, MALT1 +1 more (N31S)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency +2 more	GUncertain significance
Select item 1342384	NM_006785.4(MALT1):c.2290C>T (p.His764Tyr)	MALT1 (H753Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1160393	NM_006785.4(MALT1):c.9G>T (p.Leu3=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1148743	NM_006785.4(MALT1):c.63G>C (p.Leu21=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1115564	NM_006785.4(MALT1):c.180G>A (p.Leu60=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency +1 more	GLikely benign
Select item 1059387	NM_006785.4(MALT1):c.136G>A (p.Asp46Asn)	LOC130062586, MALT1 +1 more (D46N)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1055735	NM_006785.4(MALT1):c.26A>G (p.Gln9Arg)	LOC130062586, MALT1 +1 more (Q9R)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1055404	NM_006785.4(MALT1):c.75G>A (p.Pro25=)	MALT1, MALT1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1054228	NM_006785.4(MALT1):c.25C>G (p.Gln9Glu)	LOC130062586, MALT1 +1 more (Q9E)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1031680	NM_006785.4(MALT1):c.67G>A (p.Ala23Thr)	LOC130062586, MALT1 +1 more (A23T)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1031677	NM_006785.4(MALT1):c.133C>G (p.Leu45Val)	LOC130062586, MALT1 +1 more (L45V)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1005757	NM_006785.4(MALT1):c.42G>A (p.Ser14=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 854322	NM_006785.4(MALT1):c.202C>A (p.Arg68Ser)	LOC130062586, MALT1 +1 more (R68S)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 848660	NM_006785.4(MALT1):c.41C>G (p.Ser14Trp)	LOC130062586, MALT1 +1 more (S14W)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency +1 more	GUncertain significance
Select item 756648	NM_006785.4(MALT1):c.54G>C (p.Thr18=)	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 687799	GRCh37/hg19 18q21.32(chr18:56383385-56492895)x3	MALT1	Copy number gain	not provided	GUncertain significance
Select item 652056	NM_006785.4(MALT1):c.53C>T (p.Thr18Met)	LOC130062586, MALT1 +1 more (T18M)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 648565	NM_006785.4(MALT1):c.155G>A (p.Arg52Gln)	LOC130062586, MALT1 +1 more (R52Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 636845	NM_006785.4(MALT1):c.106C>T (p.Pro36Ser)	LOC130062586, MALT1 +1 more (P36S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 403069	NM_006785.4(MALT1):c.-35G>A	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 403068	NM_006785.4(MALT1):c.-84G>A	LOC130062586, MALT1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 242617	NM_006785.3:c.1019-2A>G	MALT1	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242616	NM_006785.3:c.1060delC	MALT1 (R343fs +1 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 52