"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SH3KBP1 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1963120	NM_031892.3(SH3KBP1):c.1995A>G (p.Lys665=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1551523	NM_031892.3(SH3KBP1):c.1968C>T (p.Asn656=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434001	NM_031892.3(SH3KBP1):c.1957A>G (p.Met653Val)	SH3KBP1 (M595V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547827	NM_031892.3(SH3KBP1):c.1957-16A>G	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938186	NM_031892.3(SH3KBP1):c.1956+10T>C	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572670	NM_031892.3(SH3KBP1):c.1956+9C>G	SH3KBP1	Single nucleotide variant (intron 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 1166220	NM_031892.3(SH3KBP1):c.1949G>A (p.Arg650Gln)	SH3KBP1 (R369Q +9 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1054830	NM_031892.3(SH3KBP1):c.1945C>T (p.Leu649Phe)	SH3KBP1 (L368F +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2856365	NM_031892.3(SH3KBP1):c.1944G>C (p.Arg648=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913110	NM_031892.3(SH3KBP1):c.1944G>A (p.Arg648=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1719061	NM_031892.3(SH3KBP1):c.1927G>A (p.Glu643Lys)	SH3KBP1 (E600K +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591110	NM_031892.3(SH3KBP1):c.1920G>A (p.Glu640=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005087	NM_031892.3(SH3KBP1):c.1912T>C (p.Leu638=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1628402	NM_031892.3(SH3KBP1):c.1892+15A>T	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167394	NM_031892.3(SH3KBP1):c.1892+14G>A	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1608195	NM_031892.3(SH3KBP1):c.1881G>A (p.Lys627=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206008	NM_031892.3(SH3KBP1):c.1876A>T (p.Met626Leu)	SH3KBP1 (M345L +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1543683	NM_031892.3(SH3KBP1):c.1869C>T (p.Ile623=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024661	NM_031892.3(SH3KBP1):c.1863C>T (p.Ser621=)	SH3KBP1	Single nucleotide variant (synonymous 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 1432220	NM_031892.3(SH3KBP1):c.1850G>A (p.Arg617His)	SH3KBP1 (R580H +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1356795	NM_031892.3(SH3KBP1):c.1833G>C (p.Glu611Asp)	SH3KBP1 (E553D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919510	NM_031892.3(SH3KBP1):c.1830G>C (p.Glu610Asp)	SH3KBP1 (E610D +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598924	NM_031892.3(SH3KBP1):c.1830G>A (p.Glu610=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1402213	NM_031892.3(SH3KBP1):c.1825G>A (p.Val609Met)	SH3KBP1 (V591M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961761	NM_031892.3(SH3KBP1):c.1824C>T (p.Ala608=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129931	NM_031892.3(SH3KBP1):c.1821G>A (p.Ala607=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420744	NM_031892.3(SH3KBP1):c.1820C>T (p.Ala607Val)	SH3KBP1 (A573V +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1377853	NM_031892.3(SH3KBP1):c.1820C>A (p.Ala607Glu)	SH3KBP1 (A326E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961648	NM_031892.3(SH3KBP1):c.1815C>T (p.Ser605=)	SH3KBP1	Single nucleotide variant (synonymous 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 1167002	NM_031892.3(SH3KBP1):c.1806G>A (p.Ala602=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1397548	NM_031892.3(SH3KBP1):c.1805C>T (p.Ala602Val)	SH3KBP1 (A321V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162823	NM_031892.3(SH3KBP1):c.1796T>C (p.Met599Thr)	SH3KBP1 (M556T +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635621	NM_031892.3(SH3KBP1):c.1779G>A (p.Thr593=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1460697	NM_031892.3(SH3KBP1):c.1775G>A (p.Gly592Asp)	SH3KBP1 (G515D +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1101723	NM_031892.3(SH3KBP1):c.1774G>A (p.Gly592Ser)	SH3KBP1 (G311S +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1544452	NM_031892.3(SH3KBP1):c.1773C>T (p.Phe591=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1642644	NM_031892.3(SH3KBP1):c.1764G>A (p.Pro588=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2974887	NM_031892.3(SH3KBP1):c.1763C>T (p.Pro588Leu)	SH3KBP1 (P486L +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 2176958	NM_031892.3(SH3KBP1):c.1745G>C (p.Gly582Ala)	SH3KBP1 (G301A +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950932	NM_031892.3(SH3KBP1):c.1743T>C (p.Ala581=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787244	NM_031892.3(SH3KBP1):c.1731T>G (p.Ser577=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426811	NM_031892.3(SH3KBP1):c.1729T>A (p.Ser577Thr)	SH3KBP1 (S500T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800841	NM_031892.3(SH3KBP1):c.1721del (p.Leu574fs)	SH3KBP1 (L293fs +12 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1415130	NM_031892.3(SH3KBP1):c.1720C>A (p.Leu574Met)	SH3KBP1 (L497M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591473	NM_031892.3(SH3KBP1):c.1719C>A (p.Pro573=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131247	NM_031892.3(SH3KBP1):c.1716C>G (p.Ser572=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080820	NM_031892.3(SH3KBP1):c.1713C>G (p.Pro571=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591573	NM_031892.3(SH3KBP1):c.1710G>A (p.Ala570=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372273	NM_031892.3(SH3KBP1):c.1707G>A (p.Ala569=)	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 2727786	NM_031892.3(SH3KBP1):c.1701C>T (p.Ser567=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669005	NM_031892.3(SH3KBP1):c.1699T>A (p.Ser567Thr)	SH3KBP1 (S286T +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1481178	NM_031892.3(SH3KBP1):c.1690G>A (p.Ala564Thr)	SH3KBP1 (A521T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097639	NM_031892.3(SH3KBP1):c.1685G>A (p.Gly562Glu)	SH3KBP1 (G460E +12 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 1166887	NM_031892.3(SH3KBP1):c.1681G>A (p.Gly561Ser)	SH3KBP1 (G280S +9 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1594929	NM_031892.3(SH3KBP1):c.1680C>T (p.Gly560=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1952869	NM_031892.3(SH3KBP1):c.1666A>G (p.Met556Val)	SH3KBP1 (M454V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128009	NM_031892.3(SH3KBP1):c.1662G>A (p.Gly554=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604398	NM_031892.3(SH3KBP1):c.1659G>A (p.Pro553=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478012	NM_031892.3(SH3KBP1):c.1658C>T (p.Pro553Leu)	SH3KBP1 (P272L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020902	NM_031892.3(SH3KBP1):c.1657C>T (p.Pro553Ser)	SH3KBP1 (P272S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671448	NM_031892.3(SH3KBP1):c.1650G>A (p.Pro550=)	SH3KBP1	Single nucleotide variant (synonymous 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 1524154	NM_031892.3(SH3KBP1):c.1646T>C (p.Leu549Pro)	SH3KBP1 (L311P +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 998709	NM_031892.3(SH3KBP1):c.1635C>A (p.Asn545Lys)	SH3KBP1 (N264K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020408	NM_031892.3(SH3KBP1):c.1632C>T (p.Asp544=)	SH3KBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905878	NM_031892.3(SH3KBP1):c.1624-6T>C	SH3KBP1	Single nucleotide variant (intron 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 1659023	NM_031892.3(SH3KBP1):c.1624-15C>T	SH3KBP1	Single nucleotide variant (intron 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 1960502	NM_031892.3(SH3KBP1):c.1623+13C>G	SH3KBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 782176	NM_031892.3(SH3KBP1):c.1621C>G (p.Gln541Glu)	SH3KBP1 (Q504E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2179927	NM_031892.3(SH3KBP1):c.1615A>G (p.Ile539Val)	SH3KBP1 (I301V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1580244	NM_031892.3(SH3KBP1):c.1587G>A (p.Ala529=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948887	NM_031892.3(SH3KBP1):c.1586C>A (p.Ala529Glu)	SH3KBP1 (A554E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1123416	NM_031892.3(SH3KBP1):c.1584C>T (p.Asp528=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1958327	NM_031892.3(SH3KBP1):c.1572C>T (p.His524=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2102074	NM_031892.3(SH3KBP1):c.1571A>G (p.His524Arg)	SH3KBP1 (H487R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919176	NM_031892.3(SH3KBP1):c.1569G>A (p.Ala523=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2097732	NM_031892.3(SH3KBP1):c.1536C>A (p.Pro512=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1496780	NM_031892.3(SH3KBP1):c.1529C>T (p.Pro510Leu)	SH3KBP1 (P473L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1644509	NM_031892.3(SH3KBP1):c.1524C>T (p.Asp508=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1508833	NM_031892.3(SH3KBP1):c.1501C>T (p.Leu501Phe)	SH3KBP1 (L263F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1657983	NM_031892.3(SH3KBP1):c.1500C>A (p.Ser500=)	SH3KBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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