"GeneDx"[submitter] AND "MTAP"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1250872	NC_000009.12:g.21802469_21802470insG	MTAP	Insertion	not provided	GBenign
Select item 1228035	NC_000009.12:g.21802470A>G	MTAP	Single nucleotide variant	not provided	GBenign
Select item 1222961	NC_000009.12:g.21802471A>G	MTAP	Single nucleotide variant	not provided	GBenign
Select item 1223355	NM_002451.4(MTAP):c.33+142C>G	LOC130001599, MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276108	NM_002451.4(MTAP):c.34-266G>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276709	NM_002451.4(MTAP):c.120+84_120+85dup	MTAP	Duplication (intron variant)	not provided	GBenign
Select item 1229885	NM_002451.4(MTAP):c.120+83_120+85dup	MTAP	Duplication (intron variant)	not provided	GBenign
Select item 1238889	NM_002451.4(MTAP):c.120+279C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285792	NM_002451.4(MTAP):c.121-185A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230723	NM_002451.4(MTAP):c.121-140G>A	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258921	NM_002451.4(MTAP):c.121-76T>C	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239449	NM_002451.4(MTAP):c.121-67A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366238	NM_002451.4(MTAP):c.166G>A (p.Val56Ile)	MTAP (V56I)	Single nucleotide variant (missense variant)	Diaphyseal medullary stenosis-bone malignancy syndrome +1 more	GBenign
Select item 1221697	NM_002451.4(MTAP):c.180-280A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224955	NM_002451.4(MTAP):c.180-257T>C	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245052	NM_002451.4(MTAP):c.180-23C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285797	NM_002451.4(MTAP):c.347+109C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228164	NM_002451.4(MTAP):c.348-208C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289991	NM_002451.4(MTAP):c.450+136A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270211	NM_002451.4(MTAP):c.450+170C>A	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366244	NM_002451.4(MTAP):c.561C>T (p.Arg187=)	MTAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1271451	NM_002451.4(MTAP):c.690+169G>A	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273154	NM_002451.4(MTAP):c.690+227G>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289972	NM_002451.4(MTAP):c.691-108G>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233845	NM_002451.4(MTAP):c.814-72T>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366256	NM_002451.4(MTAP):c.*258A>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome +1 more	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 30