ClinVar for Gene (Select 100129540) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2454609	NM_001145648.3(RASGRF1):c.3307A>G (p.Ile1103Val)	LOC100129540, RASGRF1 (I335V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300715	NM_001145648.3(RASGRF1):c.3422C>T (p.Ala1141Val)	LOC100129540, RASGRF1 (A1141V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778569	NM_001145648.3(RASGRF1):c.3354G>A (p.Ser1118=)	LOC100129540, RASGRF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 747327	NM_001145648.3(RASGRF1):c.3480A>G (p.Arg1160=)	LOC100129540, RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728799	NM_001145648.3(RASGRF1):c.3276C>T (p.Ser1092=)	LOC100129540, RASGRF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	ACSBG1, ADAMTS7 +175 more	Copy number loss	See cases	GPathogenic

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