1494[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 148242	GRCh38/hg38 12q21.31(chr12:85228467-85675435)x1	ALX1, LINC02820 +8 more	Copy number loss	See cases	GUncertain significance
Select item 147411	GRCh38/hg38 12q21.31(chr12:85253355-85319830)x1	ALX1, LINC02820 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2296624	NM_006982.3(ALX1):c.23T>C (p.Phe8Ser)	ALX1 (F8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038190	NM_006982.3(ALX1):c.48A>G (p.Lys16=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114367	NM_006982.3(ALX1):c.109A>G (p.Asn37Asp)	ALX1, LOC124629423 (N37D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409528	NM_006982.3(ALX1):c.145T>A (p.Cys49Ser)	ALX1, LOC124629423 (C49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878256	NM_006982.3(ALX1):c.149T>C (p.Val50Ala)	ALX1, LOC124629423 (V50A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2068969	NM_006982.3(ALX1):c.150G>T (p.Val50=)	ALX1, LOC124629423	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572390	NM_006982.3(ALX1):c.151C>T (p.Gln51Ter)	ALX1, LOC124629423 (Q51*)	Single nucleotide variant (nonsense)	Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	GLikely pathogenic
Select item 770412	NM_006982.3(ALX1):c.182A>G (p.His61Arg)	ALX1, LOC124629423 (H61R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228545	NM_006982.3(ALX1):c.190C>A (p.Arg64Ser)	ALX1, LOC124629423 (R64S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 210133	NM_006982.3(ALX1):c.190C>T (p.Arg64Cys)	ALX1, LOC124629423 (R64C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287469	NM_006982.3(ALX1):c.191G>T (p.Arg64Leu)	ALX1, LOC124629423 (R64L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1226313	NM_006982.3(ALX1):c.226+193C>A	ALX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784250	NM_006982.3(ALX1):c.266A>G (p.His89Arg)	ALX1 (H89R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2508070	NM_006982.3(ALX1):c.286A>G (p.Met96Val)	ALX1 (M96V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312963	NM_006982.3(ALX1):c.288G>A (p.Met96Ile)	ALX1 (M96I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2716754	NM_006982.3(ALX1):c.356T>G (p.Leu119Arg)	ALX1 (L119R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718080	NM_006982.3(ALX1):c.357T>A (p.Leu119=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455565	NM_006982.3(ALX1):c.377A>G (p.Asn126Ser)	ALX1 (N126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434140	NM_006982.3(ALX1):c.413C>T (p.Thr138Ile)	ALX1 (T138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2889013	NM_006982.3(ALX1):c.414C>T (p.Thr138=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036149	NM_006982.3(ALX1):c.507A>G (p.Thr169=)	ALX1	Single nucleotide variant (synonymous variant)	ALX1-related disorder	GLikely benign
Select item 8111	NM_006982.3(ALX1):c.531+1G>A	ALX1	Single nucleotide variant (splice donor variant)	Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	GPathogenic
Select item 1229878	NM_006982.3(ALX1):c.532-97dup	ALX1	Duplication (intron variant)	not provided	GBenign
Select item 1991732	NM_006982.3(ALX1):c.532-17T>C	ALX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2023869	NM_006982.3(ALX1):c.532-11T>G	ALX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3292145	NM_006982.3(ALX1):c.554C>T (p.Ala185Val)	ALX1 (A185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790669	NM_006982.3(ALX1):c.597G>A (p.Ala199=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788436	NM_006982.3(ALX1):c.630A>T (p.Ser210=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1990442	NM_006982.3(ALX1):c.660+17A>G	ALX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 827658	NM_006982.3(ALX1):c.661-1G>C	ALX1	Single nucleotide variant (splice acceptor variant)	Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	GPathogenic
Select item 2348777	NM_006982.3(ALX1):c.694G>T (p.Gly232Cys)	ALX1 (G232C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950586	NM_006982.3(ALX1):c.705G>A (p.Val235=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489775	NM_006982.3(ALX1):c.709A>T (p.Thr237Ser)	ALX1 (T237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243484	NM_006982.3(ALX1):c.769C>T (p.Arg257Trp)	ALX1 (R257W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070251	NM_006982.3(ALX1):c.770G>C (p.Arg257Pro)	ALX1 (R257P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2431178	NM_006982.3(ALX1):c.791G>T (p.Gly264Val)	ALX1 (G264V)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2962006	NM_006982.3(ALX1):c.801C>T (p.Asn267=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898327	NM_006982.3(ALX1):c.957C>T (p.Thr319=)	ALX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3069063	NC_000012.11:g.(?_85673997)_(85695563_?)del	ALX1	Deletion	Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	GPathogenic
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1809221	GRCh37/hg19 12q21.31(chr12:85404081-85694726)x3	ALX1, LRRIQ1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527719	GRCh37/hg19 12q21.31(chr12:85658740-85692582)	ALX1	Copy number loss	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 687316	GRCh37/hg19 12q21.31(chr12:85187541-85749398)x3	ALX1, LRRIQ1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686302	GRCh37/hg19 12q21.31(chr12:85639742-85689049)x1	ALX1	Copy number loss	not provided	GUncertain significance
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 547137	GRCh37/hg19 12q21.31(chr12:83266252-86018250)x3	ALX1, LRRIQ1 +3 more	Copy number gain	not provided	GUncertain significance
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 441609	GRCh37/hg19 12q21.31(chr12:85191032-85746665)x3	ALX1, LRRIQ1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 57