6819[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062566, LOC130062567 +87 more	Duplication	not provided	GUncertain significance
Select item 60211	GRCh38/hg38 18q21.31-21.32(chr18:58251999-58789954)x3	ALPK2, LINC03110 +29 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1139789	NM_006785.4(MALT1):c.210-19T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1612381	NM_006785.4(MALT1):c.210-16T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1966184	NM_006785.4(MALT1):c.210-14T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 541510	NM_006785.4(MALT1):c.210-7C>T	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1426874	NM_006785.4(MALT1):c.210-5T>G	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 785754	NM_006785.4(MALT1):c.219C>G (p.Asp73Glu)	MALT1 (D73E)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 547934	NM_006785.4(MALT1):c.253G>A (p.Glu85Lys)	MALT1 (E85K)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1125984	NM_006785.4(MALT1):c.264C>G (p.Pro88=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 66089	NM_006785.4(MALT1):c.266G>T (p.Ser89Ile)	MALT1 (S89I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GPathogenic
Select item 1644822	NM_006785.4(MALT1):c.279G>A (p.Leu93=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 1467195	NM_006785.4(MALT1):c.299G>A (p.Gly100Asp)	MALT1 (G100D)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 2000403	NM_006785.4(MALT1):c.315A>G (p.Glu105=)	MALT1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
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 1350561	NM_006785.4(MALT1):c.337A>G (p.Met113Val)	MALT1 (M113V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1382649	NM_006785.4(MALT1):c.344A>G (p.His115Arg)	MALT1 (H115R)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1348642	NM_006785.4(MALT1):c.364C>T (p.Leu122Phe)	MALT1 (L122F)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
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 1408683	NM_006785.4(MALT1):c.376+5G>A	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GUncertain significance
Select item 1085127	NM_006785.4(MALT1):c.376+13C>T	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
Select item 3059852	NM_006785.4(MALT1):c.377-3del	MALT1	Deletion (intron variant)	MALT1-related disorder	GBenign
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 1474764	NM_006785.4(MALT1):c.377-16_377-3del	MALT1	Deletion (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign
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 2843797	NM_006785.4(MALT1):c.377-6T>C	MALT1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to MALT1 deficiency	GLikely benign

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