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

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1244575	NM_015375.3(DSTYK):c.*51T>A	DSTYK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1220583	NM_015375.3(DSTYK):c.2603-181dup	DSTYK	Duplication (intron variant)	not provided	GBenign
Select item 1297990	NM_015375.3(DSTYK):c.2467+245del	DSTYK	Deletion (intron variant)	not provided	GBenign
Select item 1240584	NM_015375.3(DSTYK):c.2467+227G>A	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226603	NM_015375.3(DSTYK):c.2353-59G>A	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704187	NM_015375.3(DSTYK):c.2258C>T (p.Thr753Ile)	DSTYK (T753I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226332	NM_015375.3(DSTYK):c.2239-205G>T	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318283	NM_015375.3(DSTYK):c.2218G>A (p.Asp740Asn)	DSTYK (D740N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369149	NM_015375.3(DSTYK):c.2215C>G (p.Arg739Gly)	DSTYK (R739G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515728	NM_015375.3(DSTYK):c.2106-7C>T	DSTYK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 260658	NM_015375.3(DSTYK):c.2028C>T (p.Phe676=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1320966	NM_015375.3(DSTYK):c.1959A>T (p.Lys653Asn)	DSTYK (K653N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260657	NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg)	DSTYK (C641R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1257206	NM_015375.3(DSTYK):c.1818+95GT[6]	DSTYK	Microsatellite (intron variant)	not provided	GBenign
Select item 1315780	NM_015375.3(DSTYK):c.1802C>T (p.Ala601Val)	DSTYK (A601V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275691	NM_015375.3(DSTYK):c.1558-224dup	DSTYK	Duplication (intron variant)	not provided	GBenign
Select item 1287218	NM_015375.3(DSTYK):c.1558-217_1558-216insT	DSTYK	Insertion (intron variant)	not provided	GBenign
Select item 1263289	NM_015375.3(DSTYK):c.1558-244T>C	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242662	NM_015375.3(DSTYK):c.1557+220C>T	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698174	NM_015375.3(DSTYK):c.1489_1491del (p.Arg497del)	DSTYK (R497del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1250084	NM_015375.3(DSTYK):c.1325-86A>G	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235105	NM_015375.3(DSTYK):c.1294C>G (p.Leu432Val)	DSTYK (L432V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1700360	NM_015375.3(DSTYK):c.971G>A (p.Gly324Asp)	DSTYK (G324D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265298	NM_015375.3(DSTYK):c.655-30C>T	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3086044	NM_015375.3(DSTYK):c.352G>A (p.Gly118Ser)	DSTYK (G118S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1260050	NM_015375.3(DSTYK):c.266-166A>G	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236271	NM_015375.3(DSTYK):c.266-174T>C	DSTYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365244	NM_015375.3(DSTYK):c.265+2T>C	DSTYK	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1012758	NM_015375.3(DSTYK):c.257T>A (p.Leu86Gln)	DSTYK (L86Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271124	NM_015375.3(DSTYK):c.190C>T (p.Leu64Phe)	DSTYK (L64F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2442584	NM_015375.3(DSTYK):c.178A>G (p.Asn60Asp)	DSTYK (N60D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1227101	NC_000001.11:g.205211934T>C	DSTYK	Single nucleotide variant	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 33