DLK2[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 3234490	NM_023932.4(DLK2):c.828G>A (p.Gly276=)	ABCC10, DLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2229127	NM_023932.4(DLK2):c.583C>A (p.Arg195Ser)	ABCC10, DLK2 (R158S +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 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 2337602	NM_023932.4(DLK2):c.350G>A (p.Cys117Tyr)	DLK2 (C111Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082899	NM_023932.4(DLK2):c.334G>A (p.Gly112Ser)	DLK2 (G106S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272309	NM_023932.4(DLK2):c.290C>T (p.Thr97Met)	DLK2 (T97M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272310	NM_023932.4(DLK2):c.157G>A (p.Glu53Lys)	DLK2 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082898	NM_023932.4(DLK2):c.149C>T (p.Pro50Leu)	DLK2 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656603	NM_023932.4(DLK2):c.93C>T (p.Ser31=)	DLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249440	NM_023932.4(DLK2):c.55G>A (p.Ala19Thr)	DLK2 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249496	NM_023932.4(DLK2):c.42G>C (p.Leu14Phe)	DLK2 (L14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	BYSL, CCND3 +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 37