"Ambry Genetics"[submitter] AND "SH3RF3"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2321705	NM_001099289.3(SH3RF3):c.70G>A (p.Glu24Lys)	SH3RF3-AS1, SH3RF3 +1 more (E24K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473816	NM_001099289.3(SH3RF3):c.92G>C (p.Arg31Pro)	RANBP2, SH3RF3 +1 more (R31P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558545	NM_001099289.3(SH3RF3):c.407C>G (p.Pro136Arg)	RANBP2, SH3RF3 +1 more (P136R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289465	NM_001099289.3(SH3RF3):c.434C>T (p.Ala145Val)	RANBP2, SH3RF3 +1 more (A145V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250245	NM_001099289.3(SH3RF3):c.442A>C (p.Thr148Pro)	SH3RF3, RANBP2 +1 more (T148P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291133	NM_001099289.3(SH3RF3):c.448G>A (p.Ala150Thr)	SH3RF3-AS1, SH3RF3 +1 more (A150T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305056	NM_001099289.3(SH3RF3):c.490C>A (p.Pro164Thr)	SH3RF3-AS1, SH3RF3 +1 more (P164T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311430	NM_001099289.3(SH3RF3):c.523G>A (p.Ala175Thr)	SH3RF3-AS1, RANBP2 +1 more (A175T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2264789	NM_001099289.3(SH3RF3):c.530G>A (p.Ser177Asn)	RANBP2, SH3RF3-AS1 +1 more (S177N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311431	NM_001099289.3(SH3RF3):c.533T>C (p.Leu178Pro)	RANBP2, SH3RF3 +1 more (L178P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323901	NM_001099289.3(SH3RF3):c.658A>G (p.Ile220Val)	RANBP2, SH3RF3 (I220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594487	NM_001099289.3(SH3RF3):c.671G>A (p.Arg224Gln)	RANBP2, SH3RF3 (R224Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247394	NM_001099289.3(SH3RF3):c.736A>G (p.Ser246Gly)	RANBP2, SH3RF3 (S246G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267636	NM_001099289.3(SH3RF3):c.1039G>A (p.Ala347Thr)	RANBP2, SH3RF3 (A347T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311201	NM_001099289.3(SH3RF3):c.1049G>T (p.Ser350Ile)	RANBP2, SH3RF3 (S350I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253903	NM_001099289.3(SH3RF3):c.1106G>A (p.Arg369His)	RANBP2, SH3RF3 (R369H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303614	NM_001099289.3(SH3RF3):c.1201A>G (p.Met401Val)	RANBP2, SH3RF3 (M401V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349124	NM_001099289.3(SH3RF3):c.1250C>T (p.Ala417Val)	SH3RF3, RANBP2 (A417V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510426	NM_001099289.3(SH3RF3):c.1285G>A (p.Ala429Thr)	RANBP2, SH3RF3 (A429T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2539685	NM_001099289.3(SH3RF3):c.1365G>T (p.Glu455Asp)	RANBP2, SH3RF3 (E455D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277283	NM_001099289.3(SH3RF3):c.1531G>C (p.Val511Leu)	SH3RF3, RANBP2 (V511L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343015	NM_001099289.3(SH3RF3):c.1598C>T (p.Pro533Leu)	RANBP2, SH3RF3 (P533L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343470	NM_001099289.3(SH3RF3):c.1618G>A (p.Gly540Arg)	RANBP2, SH3RF3 (G540R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393749	NM_001099289.3(SH3RF3):c.1760C>A (p.Pro587Gln)	RANBP2, SH3RF3 (P587Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622072	NM_001099289.3(SH3RF3):c.1778G>A (p.Arg593Gln)	RANBP2, SH3RF3 (R593Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262969	NM_001099289.3(SH3RF3):c.1814G>A (p.Ser605Asn)	SH3RF3, RANBP2 (S605N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272222	NM_001099289.3(SH3RF3):c.1859G>A (p.Arg620Gln)	SH3RF3, RANBP2 (R620Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487677	NM_001099289.3(SH3RF3):c.1894A>G (p.Asn632Asp)	RANBP2, SH3RF3 (N632D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407866	NM_001099289.3(SH3RF3):c.1924C>A (p.Leu642Ile)	SH3RF3, RANBP2 (L642I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345073	NM_001099289.3(SH3RF3):c.1949C>T (p.Pro650Leu)	SH3RF3, RANBP2 (P650L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370678	NM_001099289.3(SH3RF3):c.2130C>A (p.Asp710Glu)	RANBP2, SH3RF3 (D710E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299356	NM_001099289.3(SH3RF3):c.2239G>A (p.Asp747Asn)	RANBP2, SH3RF3 (D747N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408864	NM_001099289.3(SH3RF3):c.2287G>A (p.Glu763Lys)	RANBP2, SH3RF3 (E763K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324187	NM_001099289.3(SH3RF3):c.2311G>A (p.Gly771Ser)	SH3RF3, RANBP2 (G771S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303218	NM_001099289.3(SH3RF3):c.2362A>T (p.Met788Leu)	RANBP2, SH3RF3 (M788L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2318786	NM_001099289.3(SH3RF3):c.2378G>A (p.Arg793Lys)	SH3RF3, RANBP2 (R793K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608523	NM_001099289.3(SH3RF3):c.2402A>G (p.Asn801Ser)	RANBP2, SH3RF3 (N801S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 37