4624[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 177988	NM_002471.4(MYH6):c.*8T>C	MYH6	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign
Select item 3222360	NM_002471.4(MYH6):c.5811T>A (p.Asp1937Glu)	MYH6 (D1937E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 703084	NM_002471.4(MYH6):c.5811T>C (p.Asp1937=)	MYH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 239180	NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)	MYH6 (D1937N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 2817675	NM_002471.4(MYH6):c.5805G>A (p.Met1935Ile)	MYH6 (M1935I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 955979	NM_002471.4(MYH6):c.5805G>T (p.Met1935Ile)	MYH6 (M1935I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1695783	NM_002471.4(MYH6):c.5803dup (p.Met1935fs)	MYH6 (M1935fs)	Duplication (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1426625	NM_002471.4(MYH6):c.5804T>C (p.Met1935Thr)	MYH6 (M1935T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 992854	NM_002471.4(MYH6):c.5797-1G>A	MYH6	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1016822	NM_002471.4(MYH6):c.5797-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1EE +4 more	GUncertain significance
Select item 1118954	NM_002471.4(MYH6):c.5797-4G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2088049	NM_002471.4(MYH6):c.5797-6T>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2850776	NM_002471.4(MYH6):c.5797-18C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1749678	NM_002471.4(MYH6):c.5796+4G>A	MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 180429	NM_002471.4(MYH6):c.5796G>A (p.Lys1932=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 566642	NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)	MYH6 (K1932*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 1749671	NM_002471.4(MYH6):c.5792C>T (p.Ala1931Val)	MYH6 (A1931V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2624864	NM_002471.4(MYH6):c.5791G>A (p.Ala1931Thr)	MYH6 (A1931T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1389860	NM_002471.4(MYH6):c.5788G>A (p.Gly1930Ser)	MYH6 (G1930S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1327358	NM_002471.4(MYH6):c.5788G>C (p.Gly1930Arg)	MYH6 (G1930R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038585	NM_002471.4(MYH6):c.5785A>G (p.Ile1929Val)	MYH6 (I1929V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2159574	NM_002471.4(MYH6):c.5782G>A (p.Asp1928Asn)	MYH6 (D1928N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 470551	NM_002471.4(MYH6):c.5780G>A (p.Arg1927His)	MYH6 (R1927H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 180428	NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)	MYH6 (R1927L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 646238	NM_002471.4(MYH6):c.5779C>T (p.Arg1927Cys)	MYH6 (R1927C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 264622	NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter)	MYH6 (R1923*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1524001	NM_002471.4(MYH6):c.5759A>G (p.Asn1920Ser)	MYH6 (N1920S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 626532	NM_002471.4(MYH6):c.5748G>C (p.Glu1916Asp)	MYH6 (E1916D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1749399	NM_002471.4(MYH6):c.5743G>A (p.Ala1915Thr)	MYH6 (A1915T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 807069	NM_002471.4(MYH6):c.5742C>T (p.Ile1914=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 520406	NM_002471.4(MYH6):c.5737G>A (p.Asp1913Asn)	MYH6 (D1913N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 699740	NM_002471.4(MYH6):c.5736G>A (p.Ala1912=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 179021	NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)	MYH6 (A1912V)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1524093	NM_002471.4(MYH6):c.5732G>A (p.Arg1911Gln)	MYH6 (R1911Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2630187	NM_002471.4(MYH6):c.5731C>T (p.Arg1911Trp)	MYH6 (R1911W)	Single nucleotide variant (missense variant)	MYH6-related disorder +1 more	GUncertain significance
Select item 1135237	NM_002471.4(MYH6):c.5730G>A (p.Glu1910=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 1749268	NM_002471.4(MYH6):c.5718T>C (p.Asp1906=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3297484	NM_002471.4(MYH6):c.5716G>T (p.Asp1906Tyr)	MYH6 (D1906Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1315174	NM_002471.4(MYH6):c.5714T>C (p.Leu1905Pro)	MYH6 (L1905P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961717	NM_002471.4(MYH6):c.5710G>C (p.Glu1904Gln)	MYH6 (E1904Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 373756	NM_002471.4(MYH6):c.5710G>A (p.Glu1904Lys)	MYH6 (E1904K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714359	NM_002471.4(MYH6):c.5706G>T (p.Gln1902His)	MYH6 (Q1902H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 44540	NM_002471.4(MYH6):c.5700G>C (p.Lys1900Asn)	MYH6 (K1900N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 392233	NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)	MYH6 (R1899H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 647390	NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys)	MYH6 (R1899C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1284386	NM_002471.4(MYH6):c.5694C>A (p.Phe1898Leu)	MYH6 (F1898L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 537945	NM_002471.4(MYH6):c.5694C>G (p.Phe1898Leu)	MYH6 (F1898L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 839642	NM_002471.4(MYH6):c.5692T>C (p.Phe1898Leu)	MYH6 (F1898L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 263719	NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)	MYH6 (F1898V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1360781	NM_002471.4(MYH6):c.5690A>G (p.Lys1897Arg)	MYH6 (K1897R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 810746	NM_002471.4(MYH6):c.5687C>T (p.Ser1896Phe)	MYH6 (S1896F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2739057	NM_002471.4(MYH6):c.5682C>T (p.Asn1894=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2452927	NM_002471.4(MYH6):c.5677A>G (p.Thr1893Ala)	MYH6 (T1893A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2816579	NM_002471.4(MYH6):c.5674A>T (p.Asn1892Tyr)	MYH6 (N1892Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2072661	NM_002471.4(MYH6):c.5667G>C (p.Glu1889Asp)	MYH6 (E1889D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2574819	NM_002471.4(MYH6):c.5662G>C (p.Glu1888Gln)	MYH6 (E1888Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 640276	NM_002471.4(MYH6):c.5662G>A (p.Glu1888Lys)	MYH6 (E1888K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1677799	NM_002471.4(MYH6):c.5662-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 3222359	NM_002471.4(MYH6):c.5662-5C>T	MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 44538	NM_002471.4(MYH6):c.5662-6C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GConflicting classifications of pathogenicity
Select item 2175382	NM_002471.4(MYH6):c.5662-9C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2022407	NM_002471.4(MYH6):c.5662-15A>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 414327	NM_002471.4(MYH6):c.5661+9A>G	MYH6	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1EE +5 more	GLikely benign
Select item 578698	NM_002471.4(MYH6):c.5661G>A (p.Ala1887=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 520363	NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)	MYH6 (A1887V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +8 more	GUncertain significance
Select item 642093	NM_002471.4(MYH6):c.5656G>A (p.Glu1886Lys)	MYH6 (E1886K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2969671	NM_002471.4(MYH6):c.5654A>G (p.Glu1885Gly)	MYH6 (E1885G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 537966	NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)	MYH6 (E1885K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1647794	NM_002471.4(MYH6):c.5652C>A (p.Ala1884=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 312839	NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3027062	NM_002471.4(MYH6):c.5648A>T (p.Gln1883Leu)	MYH6 (Q1883L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978747	NM_002471.4(MYH6):c.5645G>A (p.Arg1882His)	MYH6 (R1882H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 2085502	NM_002471.4(MYH6):c.5644C>T (p.Arg1882Cys)	MYH6 (R1882C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1146013	NM_002471.4(MYH6):c.5643G>A (p.Lys1881=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 496160	NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)	MYH6 (K1881R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 519136	NM_002471.4(MYH6):c.5635G>A (p.Ala1879Thr)	MYH6 (A1879T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2305939	NM_002471.4(MYH6):c.5629G>A (p.Val1877Ile)	MYH6 (V1877I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222358	NM_002471.4(MYH6):c.5628G>A (p.Lys1876=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1414226	NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn)	MYH6 (K1876N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 582103	NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)	MYH6 (K1876R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1572660	NM_002471.4(MYH6):c.5623C>T (p.Leu1875=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 3222357	NM_002471.4(MYH6):c.5622A>G (p.Gln1874=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 263989	NM_002471.4(MYH6):c.5601G>A (p.Gln1867=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 258715	NM_002471.4(MYH6):c.5598A>G (p.Leu1866=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 520531	NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)	MYH6 (R1865Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +8 more	GUncertain significance
Select item 684811	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)	MYH6 (R1865W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1121765	NM_002471.4(MYH6):c.5589G>A (p.Leu1863=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1218642	NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 1748444	NM_002471.4(MYH6):c.5586C>G (p.Asn1862Lys)	MYH6 (N1862K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2605808	NM_002471.4(MYH6):c.5581A>G (p.Lys1861Glu)	MYH6 (K1861E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 470550	NM_002471.4(MYH6):c.5575G>A (p.Asp1859Asn)	MYH6 (D1859N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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