"PreventionGenetics, part of Exact Sciences"[submitter] AND "RALGAPA1" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059564	NM_001346249.2(RALGAPA1):c.6791C>T (p.Pro2264Leu)	RALGAPA1 (P1758L +4 more)	Single nucleotide variant (missense variant)	RALGAPA1-related disorder	GLikely benign
Select item 3046688	NM_001346249.2(RALGAPA1):c.6546T>C (p.Asp2182=)	RALGAPA1	Single nucleotide variant (synonymous variant)	RALGAPA1-related disorder	GLikely benign
Select item 3038820	NM_001346249.2(RALGAPA1):c.5996-9dup	RALGAPA1	Duplication (intron variant)	RALGAPA1-related disorder	GLikely benign
Select item 2634289	NM_001346249.2(RALGAPA1):c.4083G>A (p.Met1361Ile)	RALGAPA1 (M1314I +4 more)	Single nucleotide variant (missense variant)	RALGAPA1-related disorder +1 more	GUncertain significance
Select item 2630420	NM_001346249.2(RALGAPA1):c.2716_2717dup (p.Ser906fs)	RALGAPA1 (S859fs +1 more)	Duplication (frameshift variant +1 more)	RALGAPA1-related disorder	GUncertain significance
Select item 2636195	NM_001346249.2(RALGAPA1):c.2711G>T (p.Gly904Val)	RALGAPA1 (G857V +1 more)	Single nucleotide variant (missense variant +1 more)	RALGAPA1-related disorder	GUncertain significance
Select item 3054746	NM_001346249.2(RALGAPA1):c.2307G>A (p.Ser769=)	RALGAPA1	Single nucleotide variant (synonymous variant +1 more)	RALGAPA1-related disorder	GLikely benign
Select item 2644176	NM_001346249.2(RALGAPA1):c.1426G>C (p.Glu476Gln)	RALGAPA1 (E476Q)	Single nucleotide variant (missense variant)	RALGAPA1-related disorder +1 more	GLikely benign
Select item 3054862	NM_001346249.2(RALGAPA1):c.1198G>A (p.Val400Ile)	RALGAPA1 (V400I)	Single nucleotide variant (missense variant)	RALGAPA1-related disorder	GLikely benign