"Ambry Genetics"[submitter] AND "CABLES1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536349	NM_001100619.3(CABLES1):c.38G>A (p.Cys13Tyr)	CABLES1, LOC130062265 (C13Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136220	NM_001100619.3(CABLES1):c.116C>G (p.Pro39Arg)	CABLES1, LOC130062265 (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136222	NM_001100619.3(CABLES1):c.151C>A (p.Pro51Thr)	CABLES1, LOC130062265 (P51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538096	NM_001100619.3(CABLES1):c.155C>G (p.Pro52Arg)	CABLES1, LOC130062265 (P52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312834	NM_001100619.3(CABLES1):c.157C>T (p.Arg53Trp)	CABLES1, LOC130062265 (R53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229023	NM_001100619.3(CABLES1):c.160A>C (p.Lys54Gln)	CABLES1, LOC130062265 (K54Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136224	NM_001100619.3(CABLES1):c.164C>G (p.Pro55Arg)	CABLES1, LOC130062265 (P55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462215	NM_001100619.3(CABLES1):c.167G>T (p.Arg56Leu)	CABLES1, LOC130062265 (R56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304587	NM_001100619.3(CABLES1):c.179G>A (p.Arg60Gln)	CABLES1, LOC130062265 (R60Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136226	NM_001100619.3(CABLES1):c.239C>T (p.Pro80Leu)	CABLES1, LOC130062265 (P80L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326071	NM_001100619.3(CABLES1):c.263G>A (p.Gly88Asp)	CABLES1 (G88D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136227	NM_001100619.3(CABLES1):c.265G>A (p.Glu89Lys)	CABLES1 (E89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136228	NM_001100619.3(CABLES1):c.283A>G (p.Lys95Glu)	CABLES1 (K95E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407777	NM_001100619.3(CABLES1):c.295G>A (p.Gly99Ser)	CABLES1 (G99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408023	NM_001100619.3(CABLES1):c.306C>G (p.Cys102Trp)	CABLES1 (C102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136229	NM_001100619.3(CABLES1):c.439C>T (p.Pro147Ser)	CABLES1, LOC130062266 (P147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349614	NM_001100619.3(CABLES1):c.440C>T (p.Pro147Leu)	CABLES1, LOC130062266 (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226495	NM_001100619.3(CABLES1):c.478C>T (p.Pro160Ser)	CABLES1, LOC130062266 (P160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136230	NM_001100619.3(CABLES1):c.498C>G (p.Phe166Leu)	CABLES1, LOC130062266 (F166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253165	NM_001100619.3(CABLES1):c.512G>A (p.Gly171Asp)	CABLES1, LOC130062266 (G171D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382128	NM_001100619.3(CABLES1):c.514G>A (p.Ala172Thr)	CABLES1, LOC130062266 (A172T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136231	NM_001100619.3(CABLES1):c.527C>T (p.Ser176Leu)	CABLES1, LOC130062266 (S176L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404553	NM_001100619.3(CABLES1):c.542A>T (p.Gln181Leu)	CABLES1, LOC130062266 (Q181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300787	NM_001100619.3(CABLES1):c.623T>G (p.Leu208Trp)	CABLES1 (L208W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605202	NM_001100619.3(CABLES1):c.628G>A (p.Glu210Lys)	CABLES1 (E210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331844	NM_001100619.3(CABLES1):c.637G>T (p.Ala213Ser)	CABLES1 (A213S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136232	NM_001100619.3(CABLES1):c.646A>G (p.Ser216Gly)	CABLES1 (S216G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2547175	NM_001100619.3(CABLES1):c.761G>T (p.Arg254Met)	CABLES1 (R254M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621482	NM_001100619.3(CABLES1):c.847C>T (p.Arg283Trp)	CABLES1 (R283W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620958	NM_001100619.3(CABLES1):c.880A>G (p.Thr294Ala)	CABLES1 (T294A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306984	NM_001100619.3(CABLES1):c.1023C>G (p.Ile341Met)	CABLES1 (I14M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530052	NM_001100619.3(CABLES1):c.1084G>A (p.Val362Ile)	CABLES1 (V362I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136219	NM_001100619.3(CABLES1):c.1160G>A (p.Gly387Asp)	CABLES1 (G387D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390608	NM_001100619.3(CABLES1):c.1235G>A (p.Arg412Gln)	CABLES1 (R147Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384578	NM_001100619.3(CABLES1):c.1266C>A (p.Phe422Leu)	CABLES1 (F157L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254582	NM_001100619.3(CABLES1):c.1364T>C (p.Met455Thr)	CABLES1 (M190T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461376	NM_001100619.3(CABLES1):c.1423G>A (p.Val475Ile)	CABLES1 (V210I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539848	NM_001100619.3(CABLES1):c.1429A>G (p.Ile477Val)	CABLES1 (I150V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481162	NM_001100619.3(CABLES1):c.1465G>C (p.Val489Leu)	CABLES1, TMEM241 (V162L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216680	NM_001100619.3(CABLES1):c.1475C>T (p.Ser492Leu)	CABLES1, TMEM241 (S492L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136221	NM_001100619.3(CABLES1):c.1502C>A (p.Thr501Asn)	CABLES1, TMEM241 (T236N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221687	NM_001100619.3(CABLES1):c.1520C>T (p.Pro507Leu)	CABLES1, TMEM241 (P180L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551584	NM_001100619.3(CABLES1):c.1571G>A (p.Arg524Gln)	CABLES1, TMEM241 (R197Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457711	NM_001100619.3(CABLES1):c.1627G>A (p.Val543Ile)	CABLES1, TMEM241 (V216I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358220	NM_001100619.3(CABLES1):c.1645G>A (p.Ala549Thr)	CABLES1, TMEM241 (A222T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357137	NM_001100619.3(CABLES1):c.1855G>A (p.Glu619Lys)	CABLES1, TMEM241 (E354K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391412	NM_001100619.3(CABLES1):c.1877A>G (p.Tyr626Cys)	CABLES1, TMEM241 (Y299C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136225	NM_001100619.3(CABLES1):c.1892A>T (p.Gln631Leu)	CABLES1, TMEM241 (Q366L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 48