ClinVar for Gene (Select 197259) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295188	NM_152649.4(MLKL):c.1351C>T (p.His451Tyr)	MLKL (H243Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295187	NM_152649.4(MLKL):c.1349C>T (p.Ala450Val)	MLKL (A450V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295186	NM_152649.4(MLKL):c.1400C>T (p.Ser467Phe)	MLKL (S259F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295185	NM_152649.4(MLKL):c.251A>G (p.Asn84Ser)	MLKL (N84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295184	NM_152649.4(MLKL):c.1233G>A (p.Pro411=)	MLKL (R193H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295183	NM_152649.4(MLKL):c.1166A>G (p.Tyr389Cys)	MLKL (Y389C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243658	NC_000016.9:g.(?_74485954)_(74808653_?)dup	FA2H, GLG1 +2 more	Duplication	not provided	GUncertain significance
Select item 3204111	NM_152649.4(MLKL):c.925C>G (p.Leu309Val)	MLKL (L309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204053	NM_152649.4(MLKL):c.808A>G (p.Ile270Val)	MLKL (I270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204014	NM_152649.4(MLKL):c.70T>G (p.Cys24Gly)	MLKL (C24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203905	NM_152649.4(MLKL):c.516C>G (p.Ile172Met)	MLKL (I172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203895	NM_152649.4(MLKL):c.50G>A (p.Arg17Gln)	MLKL (R17Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203850	NM_152649.4(MLKL):c.496G>C (p.Glu166Gln)	MLKL (E166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203805	NM_152649.4(MLKL):c.362G>T (p.Arg121Leu)	MLKL (R121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203652	NM_152649.4(MLKL):c.195C>A (p.Phe65Leu)	MLKL (F65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203631	NM_152649.4(MLKL):c.166G>A (p.Glu56Lys)	MLKL (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203547	NM_152649.4(MLKL):c.1215C>T (p.Ile405=)	MLKL (S187L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3203515	NM_152649.4(MLKL):c.120G>C (p.Lys40Asn)	MLKL (K40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203488	NM_152649.4(MLKL):c.119A>G (p.Lys40Arg)	MLKL (K40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203281	NM_152649.4(MLKL):c.1129C>A (p.Leu377Ile)	MLKL (L377I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2646862	NM_152649.4(MLKL):c.55G>A (p.Glu19Lys)	MLKL (E19K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646861	NM_152649.4(MLKL):c.1325G>A (p.Arg442Gln)	MLKL (R234Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619991	NM_152649.4(MLKL):c.1079G>C (p.Ser360Thr)	MLKL (S360T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609092	NM_152649.4(MLKL):c.1352A>G (p.His451Arg)	MLKL (H243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555761	NM_152649.4(MLKL):c.364A>G (p.Met122Val)	MLKL (M122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549870	NM_152649.4(MLKL):c.280G>A (p.Asp94Asn)	MLKL (D94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545900	NM_152649.4(MLKL):c.955C>T (p.Arg319Trp)	MLKL (R319W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2478269	NM_152649.4(MLKL):c.503A>C (p.Asn168Thr)	MLKL (N168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463864	NM_152649.4(MLKL):c.351G>T (p.Gln117His)	MLKL (Q117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2410184	NM_152649.4(MLKL):c.1186T>C (p.Tyr396His)	MLKL (Y396H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407647	NM_152649.4(MLKL):c.1252G>A (p.Glu418Lys)	MLKL (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406568	NM_152649.4(MLKL):c.614C>T (p.Pro205Leu)	MLKL (P205L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382276	NM_152649.4(MLKL):c.232A>G (p.Lys78Glu)	MLKL (K78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323802	NM_152649.4(MLKL):c.916C>T (p.Arg306Cys)	MLKL (R306C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303525	NM_152649.4(MLKL):c.118A>C (p.Lys40Gln)	MLKL (K40Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298965	NM_152649.4(MLKL):c.103G>T (p.Val35Phe)	MLKL (V35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298422	NM_152649.4(MLKL):c.697A>G (p.Lys233Glu)	MLKL (K233E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295312	NM_152649.4(MLKL):c.696C>A (p.Phe232Leu)	MLKL (F232L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287498	NM_152649.4(MLKL):c.1136C>A (p.Pro379His)	MLKL (P379H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284191	NM_152649.4(MLKL):c.1133C>T (p.Ser378Leu)	MLKL (S378L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230514	NM_152649.4(MLKL):c.1136C>G (p.Pro379Arg)	MLKL (P379R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209267	NM_152649.4(MLKL):c.248C>G (p.Ser83Cys)	MLKL (S83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1703036	NM_152649.4(MLKL):c.565C>T (p.Pro189Ser)	MLKL (P189S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely benign
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526517	GRCh37/hg19 16q23.1(chr16:74530491-74754442)	FA2H, GLG1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1341177	GRCh37/hg19 16q23.1(chr16:74150909-74848930)x3	CLEC18B, FA2H +5 more	Copy number gain	not provided	GUncertain significance
Select item 1177643	NM_152649.4(MLKL):c.947G>A (p.Gly316Asp)	MLKL (G316D)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 979475	GRCh37/hg19 16q23.1(chr16:74726998-74997287)x1	MLKL, WDR59 +1 more	Copy number loss	not provided	GUncertain significance
Select item 973944	NM_152649.4(MLKL):c.437G>A (p.Arg146Gln)	MLKL (R146Q)	Single nucleotide variant (missense variant)	Chronic multifocal osteomyelitis	Gassociation
Select item 973943	NM_152649.4(MLKL):c.394T>C (p.Ser132Pro)	MLKL (S132P)	Single nucleotide variant (missense variant)	Chronic multifocal osteomyelitis	Gassociation
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815832	GRCh37/hg19 16q23.1(chr16:74594664-74807466)x3	FA2H, RFWD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815831	GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1	WDR59, NPIPB15 +12 more	Copy number loss	not provided	GUncertain significance
Select item 791336	NM_152649.4(MLKL):c.880C>T (p.Leu294=)	MLKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788368	NM_152649.4(MLKL):c.300C>G (p.Asp100Glu)	MLKL (D100E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770791	NM_152649.4(MLKL):c.1A>G (p.Met1Val)	MLKL (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716578	NM_152649.4(MLKL):c.702A>G (p.Lys234=)	MLKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686667	GRCh37/hg19 16q23.1(chr16:74462392-74722385)x1	GLG1, MLKL +1 more	Copy number loss	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 685328	GRCh37/hg19 16q23.1(chr16:74466959-74966742)x3	FA2H, GLG1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635879	Single allele	FA2H, GLG1 +4 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 155326	GRCh38/hg38 16q23.1(chr16:74693100-74959509)x1	FA2H, LOC125177351 +12 more	Copy number loss	See cases	GLikely benign
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150420	GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1	CLEC18B, FA2H +23 more	Copy number loss	See cases	GUncertain significance
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 99