"Ambry Genetics"[submitter] AND "RBFA"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388084	NM_024805.3(RBFA):c.6G>C (p.Trp2Cys)	LOC130062798, RBFA (W2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152099	NM_024805.3(RBFA):c.34C>T (p.Arg12Cys)	LOC130062798, RBFA (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385389	NM_024805.3(RBFA):c.46C>T (p.Arg16Trp)	LOC130062798, RBFA (R16W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237709	NM_024805.3(RBFA):c.166G>A (p.Val56Ile)	RBFA (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152096	NM_024805.3(RBFA):c.200C>T (p.Ser67Leu)	RBFA (S67L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338541	NM_024805.3(RBFA):c.272C>T (p.Ala91Val)	RBFA (A91V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152097	NM_024805.3(RBFA):c.274C>T (p.Arg92Cys)	RBFA (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152098	NM_024805.3(RBFA):c.344A>G (p.Gln115Arg)	RBFA (Q115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329196	NM_024805.3(RBFA):c.428C>A (p.Thr143Lys)	RBFA (T143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398564	NM_024805.3(RBFA):c.446A>G (p.Asn149Ser)	RBFA (N149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266934	NM_024805.3(RBFA):c.482C>T (p.Ala161Val)	RBFA (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262001	NM_024805.3(RBFA):c.487A>C (p.Met163Leu)	RBFA (M163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152100	NM_024805.3(RBFA):c.580G>A (p.Asp194Asn)	RBFA (D194N)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2358545	NM_024805.3(RBFA):c.598G>A (p.Ala200Thr)	RBFA (A200T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2338608	NM_024805.3(RBFA):c.611C>T (p.Pro204Leu)	RBFA (P176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313129	NM_024805.3(RBFA):c.626A>G (p.Asp209Gly)	RBFA (D209G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152101	NM_024805.3(RBFA):c.684A>G (p.Thr228=)	RBFA (Q200R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512865	NM_024805.3(RBFA):c.719A>G (p.Asp240Gly)	RBFA (D240G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246660	NM_024805.3(RBFA):c.728C>G (p.Ala243Gly)	RBFA (R215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238059	NM_024805.3(RBFA):c.728C>T (p.Ala243Val)	RBFA (A243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455640	NM_024805.3(RBFA):c.773G>A (p.Gly258Glu)	RBFA (G230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152102	NM_024805.3(RBFA):c.777C>T (p.Leu259=)	RBFA (S231L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2301422	NM_024805.3(RBFA):c.814A>T (p.Thr272Ser)	RBFA (T272S)	Single nucleotide variant (stop lost +1 more)	not specified	GUncertain significance
Select item 2339836	NM_024805.3(RBFA):c.832G>A (p.Gly278Arg)	RBFA (G278R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2524424	NM_024805.3(RBFA):c.857T>C (p.Leu286Pro)	RBFA (L286P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489236	NM_024805.3(RBFA):c.865G>T (p.Asp289Tyr)	RBFA (D289Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152104	NM_024805.3(RBFA):c.902T>C (p.Val301Ala)	RBFA (V301A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310102	NM_024805.3(RBFA):c.944G>C (p.Cys315Ser)	RBFA (C315S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519939	NM_024805.3(RBFA):c.1015G>A (p.Gly339Arg)	RBFA (G339R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 29