Related gene-specific medical variations for Gene (Select 65989) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272308	NM_023932.4(DLK2):c.718A>C (p.Ser240Arg)	ABCC10, DLK2 (S240R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234490	NM_023932.4(DLK2):c.828G>A (p.Gly276=)	ABCC10, DLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082904	NM_023932.4(DLK2):c.851C>A (p.Ala284Asp)	ABCC10, DLK2 (A247D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082903	NM_023932.4(DLK2):c.569T>G (p.Leu190Arg)	ABCC10, DLK2 (L190R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082902	NM_023932.4(DLK2):c.509G>A (p.Arg170His)	ABCC10, DLK2 (R170H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082901	NM_023932.4(DLK2):c.500T>C (p.Val167Ala)	ABCC10, DLK2 (V161A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082900	NM_023932.4(DLK2):c.476C>T (p.Thr159Met)	ABCC10, DLK2 (T122M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656602	NM_023932.4(DLK2):c.782A>T (p.Asp261Val)	ABCC10, DLK2 (D224V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656601	NM_023932.4(DLK2):c.1036G>T (p.Ala346Ser)	ABCC10, DLK2 (A309S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559302	NM_023932.4(DLK2):c.1045T>C (p.Tyr349His)	ABCC10, DLK2 (Y312H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370331	NM_023932.4(DLK2):c.728G>C (p.Gly243Ala)	ABCC10, DLK2 (G206A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367091	NM_023932.4(DLK2):c.1091C>A (p.Pro364Gln)	ABCC10, DLK2 (P364Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355304	NM_023932.4(DLK2):c.595C>G (p.Leu199Val)	ABCC10, DLK2 (L162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341986	NM_023932.4(DLK2):c.887G>A (p.Arg296Gln)	ABCC10, DLK2 (R296Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302439	NM_023932.4(DLK2):c.389G>A (p.Arg130His)	ABCC10, DLK2 (R124H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241929	NM_023932.4(DLK2):c.1039C>G (p.Pro347Ala)	ABCC10, DLK2 (P347A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229853	NM_023932.4(DLK2):c.854G>T (p.Gly285Val)	ABCC10, DLK2 (G248V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229127	NM_023932.4(DLK2):c.583C>A (p.Arg195Ser)	ABCC10, DLK2 (R158S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance