GATC[gene] - ClinVar

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Items: 36

	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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 1294746	NM_176818.3(GATC):c.8C>T (p.Ser3Leu)	GATC, LOC112163529 (S3L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1246559	NM_176818.3(GATC):c.45C>T (p.Gly15=)	GATC, LOC112163529	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3280878	NM_176818.3(GATC):c.62C>T (p.Thr21Ile)	GATC, LOC112163529 (T21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643397	NM_176818.3(GATC):c.96C>T (p.Ile32=)	GATC, LOC112163529	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607371	NM_176818.3(GATC):c.123G>T (p.Glu41Asp)	GATC, LOC112163529 (E41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338380	NM_176818.3(GATC):c.125G>A (p.Arg42His)	GATC, LOC112163529 (R42H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432060	NM_176818.3(GATC):c.128T>C (p.Leu43Pro)	GATC, LOC112163529 (L43P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 42	GUncertain significance
Select item 3280877	NM_176818.3(GATC):c.145G>A (p.Gly49Ser)	GATC, LOC112163529 (G49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 559417	NM_176818.3(GATC):c.233T>G (p.Met78Arg)	GATC, LOC112163529 (M78R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, mitochondrial	GPathogenic
Select item 1263252	NM_176818.3(GATC):c.255-194C>T	GATC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3098789	NM_176818.3(GATC):c.304G>C (p.Glu102Gln)	GATC (E102Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 429332	NM_176818.3(GATC):c.310C>G (p.Leu104Val)	GATC (L104V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257097	NM_176818.3(GATC):c.336G>A (p.Glu112=)	GATC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2546119	NM_176818.3(GATC):c.356C>A (p.Pro119Gln)	GATC (P119Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1182274	NM_176818.3(GATC):c.359-151C>T	GATC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239885	NM_176818.3(GATC):c.359-58T>C	GATC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236331	NM_176818.3(GATC):c.*10T>G	GATC	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2368718	NM_003769.3(SRSF9):c.644T>A (p.Phe215Tyr)	GATC, SRSF9 (F215Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2570423	NM_003769.3(SRSF9):c.605G>A (p.Arg202His)	GATC, SRSF9 (R202H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3322766	NM_003769.3(SRSF9):c.562A>G (p.Thr188Ala)	GATC, SRSF9 (T188A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1809497	GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	ACADS, CABP1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808296	GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3	COQ5, COX6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 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 393734	GRCh37/hg19 12q24.31(chr12:120875916-120884607)x3	COX6A1, GATC +1 more	Copy number gain	See cases	Gconflicting data from submitters
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: 36