ClinVar for Gene (Select 102723885) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1281341	NC_000007.14:g.88227200A>G	LOC121740690, SRI +1 more	Single nucleotide variant	not provided	GBenign
Select item 1279695	NM_198901.2(SRI):c.7-1315G>C	SRI, SRI-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277351	NM_003130.4(SRI):c.136-150A>C	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271507	NM_198901.2(SRI):c.7-1322G>A	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262145	NM_198901.2(SRI):c.7-1417_7-1416del	SRI, SRI-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1253279	NM_198901.2(SRI):c.7-1446T>C	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234720	NM_003130.4(SRI):c.136-5A>G	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	PTTG1IP2, RUNDC3B +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59622	GRCh38/hg38 7q21.12-21.13(chr7:88131360-88520102)x3	ADAM22, LOC121740690 +6 more	Copy number gain	See cases	GUncertain significance