"GeneDx"[submitter] AND "GAB1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 151691	GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1	FREM3, GAB1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1294735	NC_000004.12:g.143336749TG[19]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1286688	NC_000004.12:g.143336749TG[20]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1248334	NC_000004.12:g.143336749TG[17]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1231521	NC_000004.12:g.143336749TG[18]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1286146	NC_000004.12:g.143336749TG[12]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1229624	NC_000004.12:g.143336749TG[15]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1267291	NM_002039.4(GAB1):c.-222C>T	GAB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1226118	NM_002039.4(GAB1):c.367+164dup	GAB1	Duplication (intron variant)	not provided	GBenign
Select item 1278037	NM_002039.4(GAB1):c.1196-47G>A	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263047	NM_002039.4(GAB1):c.1585+181C>T	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151721	GRCh38/hg38 4q31.21(chr4:143449949-143473442)x3	GAB1	Copy number gain	See cases	GLikely benign
Select item 1241571	NM_002039.4(GAB1):c.1586-1771_1586-1770del	GAB1	Deletion (intron variant)	not provided	GBenign
Select item 1239559	NM_002039.4(GAB1):c.1586-1770del	GAB1	Deletion (intron variant)	not provided	GBenign
Select item 1277018	NM_002039.4(GAB1):c.1586-139G>A	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177901	NM_002039.4(GAB1):c.1680-116A>G	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294745	NM_002039.4(GAB1):c.1680-54A>G	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 21