1461[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 1192692	NM_001220.5(CAMK2B):c.*2+103dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 1192565	NM_001220.5(CAMK2B):c.*2+97dup	CAMK2B	Duplication (intron variant)	Intellectual disability, autosomal dominant 54	GBenign
Select item 2154733	NM_001220.5(CAMK2B):c.1998G>A (p.Gln666=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644161	NM_001220.5(CAMK2B):c.1994T>C (p.Leu665Pro)	CAMK2B (L448P +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1583385	NM_001220.5(CAMK2B):c.1992G>A (p.Pro664=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152027	NM_001220.5(CAMK2B):c.1991C>T (p.Pro664Leu)	CAMK2B (P515L +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +1 more	GConflicting classifications of pathogenicity
Select item 2859540	NM_001220.5(CAMK2B):c.1986G>A (p.Val662=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132314	NM_001220.5(CAMK2B):c.1980G>T (p.Ala660=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062747	NM_001220.5(CAMK2B):c.1980G>A (p.Ala660=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348342	NM_001220.5(CAMK2B):c.1979C>T (p.Ala660Val)	CAMK2B (A473V +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2064110	NM_001220.5(CAMK2B):c.1978G>T (p.Ala660Ser)	CAMK2B (A511S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493451	NM_001220.5(CAMK2B):c.1978G>A (p.Ala660Thr)	CAMK2B (A660T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 783493	NM_001220.5(CAMK2B):c.1977C>T (p.Gly659=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2176213	NM_001220.5(CAMK2B):c.1974G>A (p.Ser658=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951661	NM_001220.5(CAMK2B):c.1962C>T (p.His654=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776675	NM_001220.5(CAMK2B):c.1959G>C (p.Val653=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965928	NM_001220.5(CAMK2B):c.1957G>A (p.Val653Met)	CAMK2B (V479M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192566	NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2994296	NM_001220.5(CAMK2B):c.1947G>A (p.Lys649=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898826	NM_001220.5(CAMK2B):c.1942G>A (p.Gly648Ser)	CAMK2B (G474S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528196	NM_001220.5(CAMK2B):c.1941C>T (p.Asp647=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985763	NM_001220.5(CAMK2B):c.1939G>A (p.Asp647Asn)	CAMK2B (D430N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1562607	NM_001220.5(CAMK2B):c.1938C>T (p.Arg646=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574412	NM_001220.5(CAMK2B):c.1937G>A (p.Arg646His)	CAMK2B (R429H +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1314382	NM_001220.5(CAMK2B):c.1936C>T (p.Arg646Cys)	CAMK2B (R429C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913984	NM_001220.5(CAMK2B):c.1935C>T (p.Arg645=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918096	NM_001220.5(CAMK2B):c.1934G>A (p.Arg645His)	CAMK2B (R497H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1639314	NM_001220.5(CAMK2B):c.1933C>T (p.Arg645Cys)	CAMK2B (R428C +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2749557	NM_001220.5(CAMK2B):c.1924G>T (p.Val642Leu)	CAMK2B (V455L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012799	NM_001220.5(CAMK2B):c.1923C>T (p.Arg641=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2745459	NM_001220.5(CAMK2B):c.1915del (p.Glu639fs)	CAMK2B (E422fs +7 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1579934	NM_001220.5(CAMK2B):c.1914G>A (p.Glu638=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651922	NM_001220.5(CAMK2B):c.1899C>T (p.Arg633=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1599497	NM_001220.5(CAMK2B):c.1898G>A (p.Arg633His)	CAMK2B (R416H +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1478427	NM_001220.5(CAMK2B):c.1897C>T (p.Arg633Cys)	CAMK2B (R446C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799218	NM_001220.5(CAMK2B):c.1896C>T (p.Pro632=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643178	NM_001220.5(CAMK2B):c.1892G>A (p.Arg631Gln)	CAMK2B (R414Q +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1299068	NM_001220.5(CAMK2B):c.1887G>A (p.Gln629=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566504	NM_001220.5(CAMK2B):c.1882G>A (p.Gly628Arg)	CAMK2B (G411R +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1343528	NM_001220.5(CAMK2B):c.1881C>T (p.Asp627=)	CAMK2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1506732	NM_001220.5(CAMK2B):c.1876A>G (p.Ile626Val)	CAMK2B (I409V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869140	NM_001220.5(CAMK2B):c.1872G>A (p.Gln624=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599179	NM_001220.5(CAMK2B):c.1869G>A (p.Thr623=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3365868	NM_001220.5(CAMK2B):c.1862G>A (p.Arg621Gln)	CAMK2B (R404Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759559	NM_001220.5(CAMK2B):c.1861C>T (p.Arg621Trp)	CAMK2B (R404W +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1639335	NM_001220.5(CAMK2B):c.1857C>T (p.Tyr619=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045045	NM_001220.5(CAMK2B):c.1851C>T (p.Ile617=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792711	NM_001220.5(CAMK2B):c.1849A>G (p.Ile617Val)	CAMK2B (I400V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026684	NM_001220.5(CAMK2B):c.1845C>T (p.Ala615=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658546	NM_001220.5(CAMK2B):c.1843G>T (p.Ala615Ser)	CAMK2B (A398S +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2713714	NM_001220.5(CAMK2B):c.1842C>T (p.Ala614=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806231	NM_001220.5(CAMK2B):c.1837G>C (p.Asp613His)	CAMK2B (D396H +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54	GUncertain significance
Select item 1543402	NM_001220.5(CAMK2B):c.1833A>G (p.Gly611=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766090	NM_001220.5(CAMK2B):c.1832G>C (p.Gly611Ala)	CAMK2B (G394A +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2117608	NM_001220.5(CAMK2B):c.1830T>G (p.Ile610Met)	CAMK2B (I462M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705924	NM_001220.5(CAMK2B):c.1828A>G (p.Ile610Val)	CAMK2B (I423V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428749	NM_001220.5(CAMK2B):c.1825G>A (p.Val609Ile)	CAMK2B (V609I +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +1 more	GUncertain significance
Select item 1616454	NM_001220.5(CAMK2B):c.1824C>T (p.His608=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073754	NM_001220.5(CAMK2B):c.1821G>A (p.Val607=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344387	NM_001220.5(CAMK2B):c.1801_1819dup (p.Val607fs)	CAMK2B (V390fs +7 more)	Duplication (frameshift variant)	CAMK2B-related disorder	GUncertain significance
Select item 1493335	NM_001220.5(CAMK2B):c.1819G>A (p.Val607Met)	CAMK2B (V420M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012996	NM_001220.5(CAMK2B):c.1818C>T (p.His606=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125978	NM_001220.5(CAMK2B):c.1807C>T (p.Leu603=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3363417	NM_001220.5(CAMK2B):c.1801A>C (p.Thr601Pro)	CAMK2B (T384P +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761233	NM_001220.5(CAMK2B):c.1800G>T (p.Thr600=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626867	NM_001220.5(CAMK2B):c.1800G>A (p.Thr600=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616494	NM_001220.5(CAMK2B):c.1791G>C (p.Pro597=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1192567	NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=)	CAMK2B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 54 +1 more	GBenign
Select item 1364402	NM_001220.5(CAMK2B):c.1790C>T (p.Pro597Leu)	CAMK2B (P380L +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2835829	NM_001220.5(CAMK2B):c.1784G>A (p.Ser595Asn)	CAMK2B (S408N +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2705207	NM_001220.5(CAMK2B):c.1769-6C>A	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610774	NM_001220.5(CAMK2B):c.1769-8G>A	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987847	NM_001220.5(CAMK2B):c.1769-11G>T	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881338	NM_001220.5(CAMK2B):c.1769-15G>C	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632811	NM_001220.5(CAMK2B):c.1769-15G>A	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641313	NM_001220.5(CAMK2B):c.1769-16C>T	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649888	NM_001220.5(CAMK2B):c.1769-20G>A	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902891	NM_001220.5(CAMK2B):c.1768+16C>T	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078946	NM_001220.5(CAMK2B):c.1768C>T (p.Leu590=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2999376	NM_001220.5(CAMK2B):c.1743C>T (p.Asp581=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2414233	NM_001220.5(CAMK2B):c.1741G>A (p.Asp581Asn)	CAMK2B (D364N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2087303	NM_001220.5(CAMK2B):c.1741G>C (p.Asp581His)	CAMK2B (D364H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819940	NM_001220.5(CAMK2B):c.1737G>A (p.Gly579=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767266	NM_001220.5(CAMK2B):c.1707G>A (p.Glu569=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1454876	NM_001220.5(CAMK2B):c.1701G>A (p.Ser567=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595168	NM_001220.5(CAMK2B):c.1700C>T (p.Ser567Leu)	CAMK2B (S350L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2797583	NM_001220.5(CAMK2B):c.1692G>A (p.Gly564=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2019223	NM_001220.5(CAMK2B):c.1692G>C (p.Gly564=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894614	NM_001220.5(CAMK2B):c.1691G>A (p.Gly564Glu)	CAMK2B (G347E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2104152	NM_001220.5(CAMK2B):c.1689A>G (p.Pro563=)	CAMK2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1555368	NM_001220.5(CAMK2B):c.1674-5C>T	CAMK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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