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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045377	NM_004309.6(ARHGDIA):c.*421G>A	ARHGDIA (R211Q)	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related disorder	GLikely benign
Select item 915863	NM_004309.6(ARHGDIA):c.*243G>A	ARHGDIA (G249E)	Single nucleotide variant (3 prime UTR variant +3 more)	Nephrotic syndrome, type 8 +2 more	GConflicting classifications of pathogenicity
Select item 3044624	NM_004309.6(ARHGDIA):c.*217C>T	ARHGDIA	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related disorder	GLikely benign
Select item 3044030	NM_004309.6(ARHGDIA):c.*208C>G	ARHGDIA	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related disorder	GLikely benign
Select item 3051366	NM_004309.6(ARHGDIA):c.*168T>C	ARHGDIA (L224P)	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related disorder	GLikely benign
Select item 3045251	NM_004309.6(ARHGDIA):c.*35C>T	ARHGDIA (R180W)	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related disorder	GUncertain significance
Select item 727690	NM_004309.6(ARHGDIA):c.432C>T (p.Tyr144=)	ARHGDIA	Single nucleotide variant (synonymous variant +2 more)	ARHGDIA-related disorder +1 more	GBenign/Likely benign
Select item 3033572	NM_004309.6(ARHGDIA):c.331C>G (p.Arg111Gly)	ARHGDIA (R111G +1 more)	Single nucleotide variant (missense variant)	ARHGDIA-related disorder	GUncertain significance
Select item 3039326	NM_004309.6(ARHGDIA):c.275-53_275-36dup	ARHGDIA, LOC130061973	Duplication (inframe insertion +1 more)	ARHGDIA-related disorder	GLikely benign
Select item 3036787	NM_004309.6(ARHGDIA):c.275-62G>C	ARHGDIA, LOC130061973	Single nucleotide variant (synonymous variant +1 more)	ARHGDIA-related disorder	GLikely benign
Select item 3045721	NM_004309.6(ARHGDIA):c.111G>A (p.Glu37=)	ARHGDIA, LOC130061974	Single nucleotide variant (synonymous variant +1 more)	ARHGDIA-related disorder	GLikely benign