ClinVar for Gene (Select 30011) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3161329	NM_031892.3(SH3KBP1):c.1870G>A (p.Glu624Lys)	SH3KBP1 (E386K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161328	NM_031892.3(SH3KBP1):c.1604A>G (p.Lys535Arg)	SH3KBP1 (K297R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067680	NM_031892.3(SH3KBP1):c.1334C>G (p.Ser445Trp)	SH3KBP1 (S207W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062577	GRCh37/hg19 Xp22.12(chrX:19819871-20222167)	BCLAF3, EIF1AX +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3046470	NM_031892.3(SH3KBP1):c.520+557C>T	SH3KBP1	Single nucleotide variant (intron variant)	SH3KBP1-related condition	GLikely benign
Select item 3032030	NM_031892.3(SH3KBP1):c.1256C>T (p.Pro419Leu)	SH3KBP1 (P181L +7 more)	Single nucleotide variant (missense variant)	SH3KBP1-related condition	GUncertain significance
Select item 3026542	NM_031892.3(SH3KBP1):c.544G>A (p.Glu182Lys)	SH3KBP1 (E123K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024651	GRCh37/hg19 Xp22.12(chrX:19425306-19817802)x1	MAP3K15, SH3KBP1	Copy number loss	not provided	GUncertain significance
Select item 3021269	NM_031892.3(SH3KBP1):c.1381A>G (p.Ile461Val)	SH3KBP1 (I402V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3018256	NM_031892.3(SH3KBP1):c.1265C>T (p.Pro422Leu)	SH3KBP1 (P184L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010394	NM_031892.3(SH3KBP1):c.691A>G (p.Ile231Val)	SH3KBP1 (I197V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006308	NM_031892.3(SH3KBP1):c.1413A>G (p.Ser471=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994266	NM_031892.3(SH3KBP1):c.311A>G (p.Gln104Arg)	SH3KBP1 (Q45R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2991512	NM_031892.3(SH3KBP1):c.1298+18C>T	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987748	NM_031892.3(SH3KBP1):c.390+9C>T	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985432	NM_031892.3(SH3KBP1):c.1892+13G>A	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979525	NM_031892.3(SH3KBP1):c.1882G>A (p.Asp628Asn)	SH3KBP1 (D594N +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974887	NM_031892.3(SH3KBP1):c.1763C>T (p.Pro588Leu)	SH3KBP1 (P486L +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973195	NM_031892.3(SH3KBP1):c.1536C>T (p.Pro512=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971050	NM_031892.3(SH3KBP1):c.897+8A>G	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968248	NM_031892.3(SH3KBP1):c.288C>T (p.Gly96=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967640	NM_031892.3(SH3KBP1):c.225C>G (p.His75Gln)	SH3KBP1 (H75Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963320	NM_031892.3(SH3KBP1):c.1293C>T (p.His431=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961648	NM_031892.3(SH3KBP1):c.1815C>T (p.Ser605=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957190	NM_031892.3(SH3KBP1):c.1956+5G>A	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2955940	NM_031892.3(SH3KBP1):c.1327G>A (p.Gly443Ser)	SH3KBP1 (G487S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918518	NM_031892.3(SH3KBP1):c.1283C>T (p.Pro428Leu)	SH3KBP1 (P428L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917482	NM_031892.3(SH3KBP1):c.210A>C (p.Pro70=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900743	NM_031892.3(SH3KBP1):c.1706C>T (p.Ala569Val)	SH3KBP1 (A467V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894203	NM_031892.3(SH3KBP1):c.263C>T (p.Thr88Met)	SH3KBP1 (T88M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892646	NM_031892.3(SH3KBP1):c.1334C>T (p.Ser445Leu)	SH3KBP1 (S386L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888564	NM_031892.3(SH3KBP1):c.1364C>T (p.Ser455Leu)	SH3KBP1 (S217L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886660	NM_031892.3(SH3KBP1):c.510A>C (p.Leu170=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881287	NM_031892.3(SH3KBP1):c.1384+19C>T	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879471	NM_031892.3(SH3KBP1):c.922G>C (p.Glu308Gln)	SH3KBP1 (E293Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877459	NM_031892.3(SH3KBP1):c.1325C>T (p.Ala442Val)	SH3KBP1 (A383V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874680	NM_031892.3(SH3KBP1):c.1057+16G>A	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871951	NM_031892.3(SH3KBP1):c.1649C>T (p.Pro550Leu)	SH3KBP1 (P473L +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869133	NM_031892.3(SH3KBP1):c.1676G>C (p.Gly559Ala)	SH3KBP1 (G541A +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867083	NM_031892.3(SH3KBP1):c.1895G>A (p.Arg632Gln)	SH3KBP1 (R394Q +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862098	NM_031892.3(SH3KBP1):c.1972A>C (p.Ile658Leu)	SH3KBP1 (I581L +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858950	NM_031892.3(SH3KBP1):c.582A>G (p.Glu194=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856365	NM_031892.3(SH3KBP1):c.1944G>C (p.Arg648=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852557	NM_031892.3(SH3KBP1):c.1624-19C>T	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851372	NM_031892.3(SH3KBP1):c.1176G>A (p.Lys392=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842670	NM_031892.3(SH3KBP1):c.726+9G>C	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842545	NM_031892.3(SH3KBP1):c.1854G>C (p.Glu618Asp)	SH3KBP1 (E337D +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835719	NM_031892.3(SH3KBP1):c.1929A>C (p.Glu643Asp)	SH3KBP1 (E600D +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832931	NM_031892.3(SH3KBP1):c.728C>G (p.Thr243Ser)	SH3KBP1 (T209S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830991	NM_031892.3(SH3KBP1):c.24T>A (p.Phe8Leu)	SH3KBP1 (F8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830018	NM_031892.3(SH3KBP1):c.1006-6T>C	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2817372	NM_031892.3(SH3KBP1):c.1575A>C (p.Arg525Ser)	SH3KBP1 (R488S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815313	NM_031892.3(SH3KBP1):c.651C>T (p.Asp217=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813562	NM_031892.3(SH3KBP1):c.193C>T (p.Leu65Phe)	SH3KBP1 (L6F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812168	NM_031892.3(SH3KBP1):c.948C>T (p.Gly316=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808584	NM_031892.3(SH3KBP1):c.13A>G (p.Ile5Val)	SH3KBP1 (I5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808317	NM_031892.3(SH3KBP1):c.1200A>G (p.Pro400=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805979	NM_031892.3(SH3KBP1):c.727-9T>C	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804224	NM_031892.3(SH3KBP1):c.1948C>T (p.Arg650Trp)	SH3KBP1 (R592W +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803904	NM_031892.3(SH3KBP1):c.381G>T (p.Val127=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800841	NM_031892.3(SH3KBP1):c.1721del (p.Leu574fs)	SH3KBP1 (L293fs +12 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2796325	NM_031892.3(SH3KBP1):c.501T>C (p.Asp167=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794009	NM_031892.3(SH3KBP1):c.1840A>G (p.Thr614Ala)	SH3KBP1 (T614A +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787244	NM_031892.3(SH3KBP1):c.1731T>G (p.Ser577=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779470	NM_031892.3(SH3KBP1):c.1624-7G>A	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777815	NM_031892.3(SH3KBP1):c.579T>C (p.Ser193=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777225	NM_031892.3(SH3KBP1):c.4+3G>A	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2769153	NM_031892.3(SH3KBP1):c.1213C>T (p.Pro405Ser)	SH3KBP1 (P167S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768511	NM_031892.3(SH3KBP1):c.1495-13T>C	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759428	NM_031892.3(SH3KBP1):c.1171C>T (p.Gln391Ter)	SH3KBP1 (Q354* +7 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2745756	NM_031892.3(SH3KBP1):c.1757A>G (p.Asn586Ser)	SH3KBP1 (N528S +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727786	NM_031892.3(SH3KBP1):c.1701C>T (p.Ser567=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723728	NM_031892.3(SH3KBP1):c.745C>A (p.Pro249Thr)	SH3KBP1 (P234T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723372	NM_031892.3(SH3KBP1):c.726+8C>T	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721051	NM_031892.3(SH3KBP1):c.1812C>T (p.Ser604=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704255	NM_031892.3(SH3KBP1):c.305G>A (p.Arg102Gln)	SH3KBP1 (R43Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696886	NM_031892.3(SH3KBP1):c.235A>T (p.Ser79Cys)	SH3KBP1 (S20C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692903	NM_031892.3(SH3KBP1):c.1681G>T (p.Gly561Cys)	SH3KBP1 (G323C +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2660135	NM_031892.3(SH3KBP1):c.163-945A>G	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660134	NM_031892.3(SH3KBP1):c.286+5544C>G	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660133	NM_031892.3(SH3KBP1):c.366C>T (p.Gly122=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614833	NM_031892.3(SH3KBP1):c.1373G>A (p.Ser458Asn)	SH3KBP1 (S424N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541370	NM_031892.3(SH3KBP1):c.1969G>A (p.Asp657Asn)	SH3KBP1 (D623N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529161	NM_031892.3(SH3KBP1):c.697G>A (p.Val233Ile)	SH3KBP1 (V233I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506552	GRCh37/hg19 Xp22.12(chrX:19564040-19954016)	BCLAF3, SH3KBP1	Copy number gain	Immunodeficiency 61	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2454510	NM_031892.3(SH3KBP1):c.754A>G (p.Thr252Ala)	SH3KBP1 (T218A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426990	NC_000023.10:g.(?_19764416)_(19764579_?)del	SH3KBP1	Deletion	not provided	GUncertain significance
Select item 2426989	NC_000023.10:g.(?_18525053)_(20284750_?)del	ADGRG2, BCLAF3 +10 more	Deletion	not provided	GUncertain significance
Select item 2416074	NM_031892.3(SH3KBP1):c.1521C>T (p.Phe507=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413603	NM_031892.3(SH3KBP1):c.898-5T>C	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2366914	NM_031892.3(SH3KBP1):c.937G>A (p.Gly313Ser)	SH3KBP1 (G254S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2354049	NM_031892.3(SH3KBP1):c.1140A>C (p.Glu380Asp)	SH3KBP1 (E142D +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2309376	NM_031892.3(SH3KBP1):c.829C>T (p.Pro277Ser)	SH3KBP1 (P321S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281890	NM_031892.3(SH3KBP1):c.1540G>A (p.Glu514Lys)	SH3KBP1 (E477K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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