ClinVar for MedGen (Select 40219) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246581	NC_000004.11:g.(?_2822345)_(2826943_?)dup	SH3BP2	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 3023518	NM_001122681.2(SH3BP2):c.1572C>T (p.Gly524=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 3022361	NM_001122681.2(SH3BP2):c.726C>T (p.His242=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 3016037	NM_001122681.2(SH3BP2):c.498G>A (p.Pro166=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 3015978	NM_001122681.2(SH3BP2):c.517+8C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 3014891	NM_001122681.2(SH3BP2):c.1482G>A (p.Ser494=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 3012383	NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu)	SH3BP2 (R113L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 3003205	NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile)	SH3BP2 (T327I +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 2998785	NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu)	SH3BP2 (P431L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2997057	NM_001122681.2(SH3BP2):c.239+18C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2996367	NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)	SH3BP2 (R370* +2 more)	Single nucleotide variant (nonsense)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2994048	NM_001122681.2(SH3BP2):c.1186A>G (p.Met396Val)	SH3BP2 (M396V +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2991579	NM_001122681.2(SH3BP2):c.783G>A (p.Pro261=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2988980	NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del)	SH3BP2	Deletion (inframe_deletion)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2978416	NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val)	SH3BP2 (A169V +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2977978	NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)	SH3BP2	Deletion (inframe_deletion)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2977776	NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg)	SH3BP2 (L578R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2975382	NM_001122681.2(SH3BP2):c.399C>T (p.His133=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2972542	NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn)	SH3BP2 (D279N +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2972100	NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser)	SH3BP2 (P194S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2971337	NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln)	SH3BP2 (E406Q +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2965751	NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu)	SH3BP2 (P414L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2954701	NM_001122681.2(SH3BP2):c.240-17del	SH3BP2	Deletion (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2920207	NM_001122681.2(SH3BP2):c.1620C>T (p.Thr540=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2919142	NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val)	SH3BP2 (A494V +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2918634	NM_001122681.2(SH3BP2):c.518-15C>A	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2917232	NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe)	SH3BP2 (S114F +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2911930	NM_001122681.2(SH3BP2):c.39G>A (p.Lys13=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2908509	NM_001122681.2(SH3BP2):c.1293C>G (p.Pro431=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2908039	NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr)	SH3BP2 (M430T +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2906596	NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter)	SH3BP2 (K547* +2 more)	Duplication (nonsense)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2905640	NM_001122681.2(SH3BP2):c.1682G>C (p.Arg561Thr)	SH3BP2 (R561T +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2905543	NM_001122681.2(SH3BP2):c.1137C>T (p.Pro379=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2900073	NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu)	SH3BP2 (P167L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2899453	NM_001122681.2(SH3BP2):c.1242-16C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2891007	NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala)	SH3BP2 (P418A +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2886415	NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser)	SH3BP2 (P349S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2882255	NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu)	SH3BP2 (S111L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2881160	NM_001122681.2(SH3BP2):c.1071C>T (p.Pro357=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2880329	NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter)	SH3BP2 (Q421* +2 more)	Single nucleotide variant (nonsense)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2870443	NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe)	SH3BP2 (Y505F +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2868955	NM_001122681.2(SH3BP2):c.136+14del	SH3BP2	Deletion (intron variant)	Fibrous dysplasia of jaw	GBenign
Select item 2868610	NM_001122681.2(SH3BP2):c.518-14del	SH3BP2	Deletion (intron variant)	Fibrous dysplasia of jaw	GBenign
Select item 2864605	NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys)	SH3BP2 (W558C +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2861487	NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser)	SH3BP2 (E172S +2 more)	Indel (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2861279	NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu)	SH3BP2 (M110L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2860831	NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln)	SH3BP2 (L125Q +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2859676	NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr)	SH3BP2 (S344T +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2858933	NM_001122681.2(SH3BP2):c.136+5G>A	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2853906	NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys)	SH3BP2 (W36C +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2847149	NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr)	SH3BP2 (R326T +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2844615	NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu)	SH3BP2 (D165E +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2840856	NM_001122681.2(SH3BP2):c.705G>A (p.Leu235=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2826391	NM_001122681.2(SH3BP2):c.279T>C (p.Val93=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2817173	NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly)	SH3BP2 (A439G +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2817006	NM_001122681.2(SH3BP2):c.1242-7C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2815329	NM_001122681.2(SH3BP2):c.1425C>G (p.Ser475Arg)	SH3BP2 (S475R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2813768	NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu)	SH3BP2 (P323L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2812100	NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala)	SH3BP2 (G134A +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2804895	NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr)	SH3BP2 (H128Y +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2799990	NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg)	SH3BP2 (P239R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2798453	NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp)	SH3BP2 (A382D +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2793995	NM_001122681.2(SH3BP2):c.1406+11A>G	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2792625	NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser)	SH3BP2 (P235S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2790041	NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly)	SH3BP2 (D279G +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2789291	NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly)	SH3BP2 (R292G +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2786008	NM_001122681.2(SH3BP2):c.1656G>A (p.Arg552=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2783337	NM_001122681.2(SH3BP2):c.518-14C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2776812	NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His)	SH3BP2 (Q490H +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2771677	NM_001122681.2(SH3BP2):c.428+20A>C	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2765714	NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter)	SH3BP2 (C543* +2 more)	Single nucleotide variant (nonsense)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2764451	NM_001122681.2(SH3BP2):c.586+9G>A	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2763751	NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro)	SH3BP2 (L390P +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2759954	NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg)	SH3BP2 (P168R +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2752441	NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met)	SH3BP2 (V536M +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2751664	NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu)	SH3BP2 (V557L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2740505	NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn)	SH3BP2 (S177N +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2739555	NM_001122681.2(SH3BP2):c.1548+9G>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2734120	NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn)	SH3BP2 (I156N +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2729619	NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser)	SH3BP2 (P396S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2729102	NM_001122681.2(SH3BP2):c.1549-14C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2727828	NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)	SH3BP2 (V156A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2724894	NM_001122681.2(SH3BP2):c.936C>T (p.His312=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2724644	NM_001122681.2(SH3BP2):c.1440C>G (p.Pro480=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2721504	NM_001122681.2(SH3BP2):c.1296G>A (p.Arg432=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2716044	NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu)	SH3BP2 (D279E +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2712469	NM_001122681.2(SH3BP2):c.1489-4G>A	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2707174	NM_001122681.2(SH3BP2):c.984C>T (p.Ser328=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2705358	NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu)	SH3BP2 (P617L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2703360	NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu)	SH3BP2 (P413L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2703313	NM_001122681.2(SH3BP2):c.1491C>G (p.Val497=)	SH3BP2	Single nucleotide variant (synonymous variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2702295	NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn)	SH3BP2 (K293N +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2421071	NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala)	SH3BP2 (P480A +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2418565	NM_001122681.2(SH3BP2):c.586+11C>T	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw	GLikely benign
Select item 2417783	NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala)	SH3BP2 (E190A +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2414440	NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val)	SH3BP2 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2413363	NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser)	SH3BP2 (P393S +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 2378969	NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys)	SH3BP2 (E33K +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 2236085	NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln)	SH3BP2 (R332Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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