"Ambry Genetics"[submitter] AND "SORBS2"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400025	NM_001395207.1(SORBS2):c.3876C>A (p.Phe1292Leu)	LOC126807247, SORBS2 (F1083L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268028	NM_001395207.1(SORBS2):c.3864C>A (p.Phe1288Leu)	LOC126807247, SORBS2 (F1051L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321452	NM_001395207.1(SORBS2):c.3833G>T (p.Trp1278Leu)	SORBS2, SORBS2-AS1 (W1178L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399010	NM_001395207.1(SORBS2):c.3829G>A (p.Gly1277Ser)	SORBS2, SORBS2-AS1 (G1040S +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528571	NM_001395207.1(SORBS2):c.3727G>C (p.Gly1243Arg)	SORBS2, SORBS2-AS1 (G1034R +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507432	NM_001395207.1(SORBS2):c.3724G>T (p.Gly1242Trp)	SORBS2, SORBS2-AS1 (G1111W +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321441	NM_001395207.1(SORBS2):c.3721G>A (p.Gly1241Ser)	SORBS2, SORBS2-AS1 (G1032S +24 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2243896	NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg)	SORBS2 (S1006R +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293718	NM_001395207.1(SORBS2):c.3637C>A (p.Pro1213Thr)	SORBS2 (P1051T +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617312	NM_001395207.1(SORBS2):c.3628C>T (p.Pro1210Ser)	SORBS2 (P1048S +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511231	NM_001395207.1(SORBS2):c.3589G>A (p.Val1197Ile)	SORBS2 (V1035I +24 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263853	NM_001395207.1(SORBS2):c.3499C>A (p.Leu1167Ile)	SORBS2 (L1038I +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321444	NM_001395207.1(SORBS2):c.3430A>G (p.Ile1144Val)	SORBS2 (I1111V +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321453	NM_001395207.1(SORBS2):c.3362C>T (p.Thr1121Ile)	SORBS2 (T1060I +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167509	NM_001395207.1(SORBS2):c.3349G>A (p.Val1117Ile)	SORBS2 (V1103I +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321445	NM_001395207.1(SORBS2):c.3341T>A (p.Ile1114Asn)	SORBS2 (I1053N +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234433	NM_001395207.1(SORBS2):c.3323G>A (p.Arg1108Lys)	SORBS2 (R1008K +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552999	NM_001395207.1(SORBS2):c.3305A>T (p.Glu1102Val)	SORBS2 (E1002V +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456153	NM_001395207.1(SORBS2):c.3169A>G (p.Arg1057Gly)	SORBS2 (R1043G +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167508	NM_001395207.1(SORBS2):c.3160C>G (p.Pro1054Ala)	SORBS2 (P246A +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282422	NM_001395207.1(SORBS2):c.3148G>T (p.Gly1050Trp)	SORBS2 (G394W +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287997	NM_001395207.1(SORBS2):c.3107G>A (p.Arg1036His)	SORBS2 (R1036H +24 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167507	NM_001395207.1(SORBS2):c.3062A>G (p.Asn1021Ser)	SORBS2 (N740S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2526570	NM_001395207.1(SORBS2):c.3052G>A (p.Asp1018Asn)	SORBS2 (D1004N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167504	NM_001395207.1(SORBS2):c.3047A>G (p.Asp1016Gly)	SORBS2 (D1016G +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510137	NM_001395207.1(SORBS2):c.3017G>T (p.Gly1006Val)	SORBS2 (G806V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269518	NM_001395207.1(SORBS2):c.2942G>T (p.Ser981Ile)	SORBS2 (S819I +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353407	NM_001395207.1(SORBS2):c.2930C>T (p.Ala977Val)	SORBS2 (A681V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167503	NM_001395207.1(SORBS2):c.2920T>C (p.Ser974Pro)	SORBS2 (S678P +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539007	NM_001395207.1(SORBS2):c.2905C>A (p.Pro969Thr)	SORBS2 (P754T +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223154	NM_001395207.1(SORBS2):c.2902G>A (p.Val968Ile)	SORBS2 (V687I +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3167502	NM_001395207.1(SORBS2):c.2846G>A (p.Gly949Glu)	SORBS2 (G653E +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558634	NM_001395207.1(SORBS2):c.2807A>G (p.Lys936Arg)	SORBS2 (K655R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254546	NM_001395207.1(SORBS2):c.2803C>T (p.Leu935Phe)	SORBS2 (L735F +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167500	NM_001395207.1(SORBS2):c.2770A>G (p.Lys924Glu)	SORBS2 (K724E +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395666	NM_001395207.1(SORBS2):c.2733T>A (p.Asn911Lys)	SORBS2 (N630K +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321459	NM_001395207.1(SORBS2):c.2731A>T (p.Asn911Tyr)	SORBS2 (N749Y +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533582	NM_001395207.1(SORBS2):c.2688A>C (p.Lys896Asn)	SORBS2 (K765N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374960	NM_001395207.1(SORBS2):c.2657G>A (p.Arg886Lys)	SORBS2 (R590K +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167499	NM_001395207.1(SORBS2):c.2580G>T (p.Arg860Ser)	SORBS2 (R799S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354783	NM_001395207.1(SORBS2):c.2554C>T (p.His852Tyr)	SORBS2 (H637Y +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167498	NM_001395207.1(SORBS2):c.2549A>G (p.His850Arg)	SORBS2 (H641R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540714	NM_001395207.1(SORBS2):c.2510G>C (p.Gly837Ala)	SORBS2 (G541A +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224527	NM_001395207.1(SORBS2):c.2411T>C (p.Val804Ala)	SORBS2 (V523A +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603252	NM_001395207.1(SORBS2):c.2389G>A (p.Asp797Asn)	SORBS2 (D501N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321451	NM_001395207.1(SORBS2):c.2320A>G (p.Asn774Asp)	SORBS2 (N493D +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321447	NM_001395207.1(SORBS2):c.2291C>T (p.Pro764Leu)	SORBS2 (P595L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167497	NM_001395207.1(SORBS2):c.2287C>T (p.Pro763Ser)	SORBS2 (P467S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167496	NM_001395207.1(SORBS2):c.2157G>T (p.Lys719Asn)	SORBS2 (K588N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323276	NM_001395207.1(SORBS2):c.2077T>C (p.Trp693Arg)	SORBS2 (W397R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550765	NM_001395207.1(SORBS2):c.2051A>C (p.Gln684Pro)	SORBS2 (Q628P +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321460	NM_001395207.1(SORBS2):c.1998C>A (p.Asn666Lys)	SORBS2 (N537K +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398875	NM_001395207.1(SORBS2):c.1952A>G (p.Lys651Arg)	SORBS2 (K355R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378720	NM_001395207.1(SORBS2):c.1882C>T (p.Pro628Ser)	SORBS2 (P347S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318584	NM_001395207.1(SORBS2):c.1871C>T (p.Ser624Phe)	SORBS2 (S328F +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624233	NM_001395207.1(SORBS2):c.1867G>A (p.Gly623Arg)	SORBS2 (G494R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411663	NM_001395207.1(SORBS2):c.1828T>C (p.Cys610Arg)	SORBS2 (C395R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338764	NM_001395207.1(SORBS2):c.1769A>G (p.Asp590Gly)	SORBS2 (D309G +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167495	NM_001395207.1(SORBS2):c.1742C>T (p.Ser581Phe)	SORBS2 (S381F +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619475	NM_001395207.1(SORBS2):c.1711A>G (p.Thr571Ala)	SORBS2 (T409A +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321456	NM_001395207.1(SORBS2):c.1698A>C (p.Glu566Asp)	SORBS2 (E351D +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321454	NM_001395207.1(SORBS2):c.1697A>C (p.Glu566Ala)	SORBS2 (E270A +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317159	NM_001395207.1(SORBS2):c.1646C>T (p.Pro549Leu)	SORBS2 (P253L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620395	NM_001395207.1(SORBS2):c.1581C>A (p.Asn527Lys)	SORBS2 (N358K +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494050	NM_001395207.1(SORBS2):c.1567G>T (p.Gly523Trp)	SORBS2 (G227W +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331187	NM_001395207.1(SORBS2):c.1542A>G (p.Ile514Met)	SORBS2 (I218M +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494105	NM_001395207.1(SORBS2):c.1463G>C (p.Ser488Thr)	SORBS2 (S207T +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365904	NM_001395207.1(SORBS2):c.1442G>A (p.Arg481Gln)	SORBS2 (R185Q +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342023	NM_001395207.1(SORBS2):c.1421C>T (p.Ala474Val)	SORBS2 (A312V +22 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167514	NM_001395207.1(SORBS2):c.1399C>T (p.Arg467Trp)	SORBS2 (R171W +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537665	NM_001395207.1(SORBS2):c.854G>A (p.Arg285Gln)	SORBS2 (R231Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167513	NM_001395207.1(SORBS2):c.836C>T (p.Pro279Leu)	SORBS2 (P164L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321448	NM_001395207.1(SORBS2):c.833C>T (p.Pro278Leu)	SORBS2 (P178L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321442	NM_001395207.1(SORBS2):c.812C>G (p.Pro271Arg)	SORBS2 (P171R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390477	NM_001395207.1(SORBS2):c.812C>T (p.Pro271Leu)	SORBS2 (P257L +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2467707	NM_001395207.1(SORBS2):c.691C>G (p.Pro231Ala)	SORBS2 (P116A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590165	NM_001395207.1(SORBS2):c.674A>G (p.Asn225Ser)	SORBS2 (N171S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621091	NM_001395207.1(SORBS2):c.635A>G (p.Asp212Gly)	SORBS2 (D175G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477019	NM_001395207.1(SORBS2):c.619A>G (p.Met207Val)	SORBS2 (M170V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167510	NM_001395207.1(SORBS2):c.586G>C (p.Asp196His)	SORBS2 (D142H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167505	NM_001395207.1(SORBS2):c.544G>A (p.Gly182Arg)	SORBS2 (G151R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321449	NM_001395207.1(SORBS2):c.467G>C (p.Arg156Pro)	SORBS2 (R102P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247396	NM_001395207.1(SORBS2):c.422C>T (p.Ala141Val)	SORBS2 (A104V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321443	NM_001395207.1(SORBS2):c.421G>A (p.Ala141Thr)	SORBS2 (A127T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321455	NM_001395207.1(SORBS2):c.397T>G (p.Ser133Ala)	SORBS2 (S33A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456154	NM_001395207.1(SORBS2):c.383G>A (p.Gly128Asp)	SORBS2 (G128D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387220	NM_001395207.1(SORBS2):c.382G>A (p.Gly128Ser)	SORBS2 (G114S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321450	NM_001395207.1(SORBS2):c.359A>G (p.Asn120Ser)	SORBS2 (N106S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 88