ClinVar for Gene (Select 57542) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289036	NM_020782.2(KLHL42):c.1038T>G (p.Ile346Met)	KLHL42 (I346M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289035	NM_020782.2(KLHL42):c.578C>T (p.Thr193Ile)	KLHL42 (T193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115768	NM_020782.2(KLHL42):c.986C>A (p.Pro329His)	KLHL42 (P329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115766	NM_020782.2(KLHL42):c.812C>T (p.Ala271Val)	KLHL42 (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115765	NM_020782.2(KLHL42):c.589G>T (p.Val197Leu)	KLHL42 (V197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115764	NM_020782.2(KLHL42):c.524C>T (p.Ala175Val)	KLHL42 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115763	NM_020782.2(KLHL42):c.421G>T (p.Gly141Trp)	KLHL42 (G141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115762	NM_020782.2(KLHL42):c.40C>G (p.Arg14Gly)	KLHL42 (R14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685051	GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4	BMAL2, CCDC91 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2604403	NM_020782.2(KLHL42):c.763C>G (p.Leu255Val)	KLHL42 (L255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461600	NM_020782.2(KLHL42):c.995A>C (p.Asn332Thr)	KLHL42 (N332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2427662	NC_000012.11:g.(?_27869224)_(28123052_?)dup	KLHL42, MANSC4 +2 more	Duplication	not provided	GUncertain significance
Select item 2350241	NM_020782.2(KLHL42):c.140G>A (p.Gly47Asp)	KLHL42 (G47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246209	NM_020782.2(KLHL42):c.409G>T (p.Ala137Ser)	KLHL42 (A137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210872	NM_020782.2(KLHL42):c.965A>G (p.Asp322Gly)	KLHL42 (D322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340709	GRCh37/hg19 12p11.23-11.22(chr12:27698864-28039441)x3	KLHL42, MANSC4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44