"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RHAG"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163265	NM_000324.3(RHAG):c.1068-26T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435431	NM_000324.3(RHAG):c.958A>T (p.Thr320Ser)	RHAG (T320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693912	NM_000324.3(RHAG):c.939C>T (p.Phe313=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682927	NM_000324.3(RHAG):c.518C>T (p.Thr173Met)	RHAG (T173M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163266	NM_000324.3(RHAG):c.341+4A>G	RHAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1693913	NM_000324.3(RHAG):c.329T>C (p.Ile110Thr)	RHAG (I110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381008	NM_000324.3(RHAG):c.212del (p.Phe71fs)	RHAG (F71fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1048967	NM_000324.3(RHAG):c.209C>T (p.Thr70Ile)	RHAG (T70I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693914	NM_000324.3(RHAG):c.199T>C (p.Phe67Leu)	RHAG (F67L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 218295	NM_000324.3(RHAG):c.194T>C (p.Phe65Ser)	RHAG (F65S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1693915	NM_000324.3(RHAG):c.187G>C (p.Val63Leu)	RHAG (V63L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2243591	NM_000324.3(RHAG):c.145G>C (p.Glu49Gln)	RHAG (E49Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance