6541[HGNC] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 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 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 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 308014	NM_002300.8(LDHB):c.*73T>C	LDHB	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 14565	NM_002300.8(LDHB):c.973T>C (p.Trp325Arg)	LDHB (W325R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GAffects
Select item 631681	NM_002300.8(LDHB):c.946C>T (p.Gln316Ter)	LDHB (Q316*)	Single nucleotide variant (nonsense)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 2533466	NM_002300.8(LDHB):c.910G>A (p.Val304Ile)	LDHB (V242I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 308015	NM_002300.8(LDHB):c.879A>G (p.Pro293=)	LDHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2525108	NM_002300.8(LDHB):c.877C>G (p.Pro293Ala)	LDHB (P231A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 884169	NM_002300.8(LDHB):c.843G>A (p.Met281Ile)	LDHB (M281I)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 2246074	NM_002300.8(LDHB):c.839G>A (p.Gly280Glu)	LDHB (G218E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 880881	NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)	LDHB (T276A)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 3118239	NM_002300.8(LDHB):c.793T>G (p.Leu265Val)	LDHB (L203V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 880882	NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)	LDHB (I261T)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 880883	NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)	LDHB (S256N)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 3290375	NM_002300.8(LDHB):c.758T>C (p.Ile253Thr)	LDHB (I191T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 308016	NM_002300.8(LDHB):c.749A>G (p.Asn250Ser)	LDHB (N250S)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency +1 more	GUncertain significance
Select item 308017	NM_002300.8(LDHB):c.727A>G (p.Ile243Val)	LDHB (I243V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 745038	NM_002300.8(LDHB):c.726C>T (p.Val242=)	LDHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 308018	NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys)	LDHB (Y240C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 308019	NM_002300.8(LDHB):c.713+15A>G	LDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 308020	NM_002300.8(LDHB):c.621G>T (p.Val207=)	LDHB	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 308021	NM_002300.8(LDHB):c.585C>T (p.Gly195=)	LDHB	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 3118238	NM_002300.8(LDHB):c.557G>A (p.Cys186Tyr)	LDHB (C124Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 308022	NM_002300.8(LDHB):c.528T>A (p.Ala176=)	LDHB	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 882255	NM_002300.8(LDHB):c.523A>G (p.Met175Val)	LDHB (M175V)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 14562	NM_002300.8(LDHB):c.515G>A (p.Arg172His)	LDHB (R172H)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GAffects
Select item 308023	NM_002300.8(LDHB):c.472C>T (p.Arg158Cys)	LDHB (R158C)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GLikely benign
Select item 725612	NM_002300.8(LDHB):c.435G>A (p.Thr145=)	LDHB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 308024	NM_002300.8(LDHB):c.422-10A>G	LDHB	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 882256	NM_002300.8(LDHB):c.421+13A>G	LDHB	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GBenign
Select item 308025	NM_002300.8(LDHB):c.421+7T>C	LDHB	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 14563	NM_002300.8(LDHB):c.385A>C (p.Ser129Arg)	LDHB (S129R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GAffects
Select item 308026	NM_002300.8(LDHB):c.375C>T (p.Ile125=)	LDHB	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 2308802	NM_002300.8(LDHB):c.347A>C (p.Asn116Thr)	LDHB (N116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249181	NM_002300.8(LDHB):c.262G>C (p.Ala88Pro)	LDHB (A88P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118237	NM_002300.8(LDHB):c.227C>T (p.Pro76Leu)	LDHB (P14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 882518	NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)	LDHB (S70R)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 882519	NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)	LDHB (K60E)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 2232459	NM_002300.8(LDHB):c.152T>C (p.Leu51Pro)	LDHB (L51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 308027	NM_002300.8(LDHB):c.130-3_130-2del	LDHB	Deletion (splice acceptor variant)	not provided +1 more	GBenign/Likely benign
Select item 882520	NM_002300.8(LDHB):c.130-8G>A	LDHB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 308028	NM_002300.8(LDHB):c.129+11A>G	LDHB	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 14564	NM_002300.8(LDHB):c.19A>G (p.Lys7Glu)	LDHB (K7E)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GAffects
Select item 882521	NM_002300.8(LDHB):c.-34A>G	LDHB	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 883306	NM_002300.8(LDHB):c.-71C>G	LDHB	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 308029	NM_002300.8(LDHB):c.-81G>C	LDHB	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GBenign
Select item 308030	NM_002300.7(LDHB):c.-102C>A	LDHB	Single nucleotide variant	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	GUncertain significance
Select item 308031	NM_002300.7(LDHB):c.-109C>T	LDHB	Single nucleotide variant	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	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 2684669	GRCh37/hg19 12p12.1(chr12:21764770-22085125)x3	ABCC9, KCNJ8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
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 2423437	NC_000012.11:g.(?_20522219)_(22089608_?)dup	ABCC9, GOLT1B +13 more	Duplication	not provided	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	PTPRO, PYROXD1 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527694	GRCh37/hg19 12p12.1(chr12:21759357-22017890)	ABCC9, KCNJ8 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
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 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1445073	NC_000012.11:g.(?_21590665)_(22089608_?)dup	ABCC9, GOLT1B +6 more	Duplication	Dilated cardiomyopathy 1O	GUncertain significance
Select item 1411401	NC_000012.11:g.(?_21590665)_(22089608_?)del	ABCC9, GOLT1B +6 more	Deletion	Dilated cardiomyopathy 1O	GUncertain significance
Select item 979339	GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1	GYS2, KCNJ8 +11 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 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	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 685736	GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1	ABCC9, C2CD5 +16 more	Copy number loss	not provided	GUncertain significance
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 563925	GRCh37/hg19 12p12.1(chr12:21755837-22023573)x3	GYS2, LDHB +2 more	Copy number gain	not provided	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 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 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

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Items: 88