ClinVar for MedGen (Select 6162) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598964	NM_001031689.3(PLAA):c.1487-1G>A	PLAA	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 369633	NC_000023.11:g.124373164G>A	SH2D1A	Single nucleotide variant	Lymphoproliferative disorder	GLikely benign
Select item 367875	NM_002351.5(SH2D1A):c.*203del	SH2D1A	Deletion (3 prime UTR variant)	Lymphoproliferative disorder +1 more	GBenign
Select item 367874	NM_002351.5(SH2D1A):c.51_52del	SH2D1A	Deletion (3 prime UTR variant)	Lymphoproliferative disorder	GUncertain significance
Select item 367865	NM_001167.4(XIAP):c.*6564CTGA[2]	XIAP	Microsatellite (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GLikely benign
Select item 367852	NM_001167.4(XIAP):c.*5519del	XIAP	Deletion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367851	NM_001167.4(XIAP):c.*5505del	XIAP	Deletion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367847	NM_001167.4(XIAP):c.*5180del	XIAP	Deletion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367846	NM_001167.4(XIAP):c.*5180dup	XIAP	Duplication (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GConflicting classifications of pathogenicity
Select item 367844	NM_001167.4(XIAP):c.5068_5069insT	XIAP	Insertion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367843	NM_001167.4(XIAP):c.*5070del	XIAP	Deletion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GUncertain significance
Select item 367842	NM_001167.4(XIAP):c.*5047del	XIAP	Deletion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367841	NM_001167.4(XIAP):c.*5047dup	XIAP	Duplication (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GUncertain significance
Select item 367840	NM_001167.4(XIAP):c.5034_5035insAAA	XIAP	Insertion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GLikely benign
Select item 367835	NM_001167.4(XIAP):c.4307_4309dup	XIAP	Duplication (3 prime UTR variant +1 more)	Lymphoproliferative disorder +1 more	GUncertain significance
Select item 367834	NM_001167.4(XIAP):c.*4309dup	XIAP	Duplication (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367826	NM_001167.4(XIAP):c.*3702dup	XIAP	Duplication (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367809	NM_001167.4(XIAP):c.2296_2300del	XIAP	Deletion (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GBenign
Select item 367803	NM_001167.4(XIAP):c.*1175ATTA[1]	XIAP	Microsatellite (3 prime UTR variant +1 more)	Lymphoproliferative disorder	GLikely benign
Select item 352496	NM_005546.4(ITK):c.*1682G>T	ITK	Single nucleotide variant (3 prime UTR variant)	Lymphoproliferative disorder	GUncertain significance
Select item 352465	NM_005546.4(ITK):c.622TGG[1] (p.Trp209del)	ITK (W209del)	Microsatellite (inframe_deletion)	Lymphoproliferative disorder +1 more	GUncertain significance

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Items: 21