29954[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC112268136, LOC112268140 +3283 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3278 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +504 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ALDH6A1, ALKBH1 +1424 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1205 more	Copy number gain	See cases	GPathogenic
Select item 884604	NM_013382.7(POMT2):c.*2381A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314506	NM_013382.7(POMT2):c.*2369dup	POMT2	Duplication (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +1 more	GUncertain significance
Select item 884605	NM_013382.7(POMT2):c.*2359A>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314507	NM_013382.7(POMT2):c.*2325A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 884606	NM_013382.7(POMT2):c.*2200G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314508	NM_013382.7(POMT2):c.*2165T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314509	NM_013382.7(POMT2):c.*2160T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive	GUncertain significance
Select item 314510	NM_013382.7(POMT2):c.*2151A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 314511	NM_013382.7(POMT2):c.*2093A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314512	NM_013382.7(POMT2):c.*2091G>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GLikely benign
Select item 885541	NM_013382.7(POMT2):c.*2080G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 885542	NM_013382.7(POMT2):c.*2077T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314513	NM_013382.7(POMT2):c.*2072C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 885543	NM_013382.7(POMT2):c.*2053C>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314514	NM_013382.7(POMT2):c.*1974G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314515	NM_013382.7(POMT2):c.*1967C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 885544	NM_013382.7(POMT2):c.*1906G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 886564	NM_013382.7(POMT2):c.*1893G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GLikely benign
Select item 886565	NM_013382.7(POMT2):c.*1818T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314516	NM_013382.7(POMT2):c.*1805G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 886566	NM_013382.7(POMT2):c.*1774C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314517	NM_013382.7(POMT2):c.*1756C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GLikely benign
Select item 314518	NM_013382.7(POMT2):c.*1749C>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314519	NM_013382.7(POMT2):c.*1748C>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314520	NM_013382.7(POMT2):c.*1742G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 887817	NM_013382.7(POMT2):c.*1734A>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314521	NM_013382.7(POMT2):c.*1724C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 887818	NM_013382.7(POMT2):c.*1641C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314522	NM_013382.7(POMT2):c.*1610T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314523	NM_013382.7(POMT2):c.*1603C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314524	NM_013382.7(POMT2):c.*1579C>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 887819	NM_013382.7(POMT2):c.*1548G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314525	NM_013382.7(POMT2):c.*1516A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314526	NM_013382.7(POMT2):c.*1501G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 884670	NM_013382.7(POMT2):c.*1474G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314527	NM_013382.7(POMT2):c.*1337C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GLikely benign
Select item 884671	NM_013382.7(POMT2):c.*1317A>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314528	NM_013382.7(POMT2):c.*1317A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314529	NM_013382.7(POMT2):c.*1285T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314530	NM_013382.7(POMT2):c.*1265T>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 885613	NM_013382.7(POMT2):c.*1252C>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314531	NM_013382.7(POMT2):c.*1137G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314532	NM_013382.7(POMT2):c.*1087C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GBenign
Select item 314533	NM_013382.7(POMT2):c.*1058G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314534	NM_013382.7(POMT2):c.*1053A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 885614	NM_013382.7(POMT2):c.*1043C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314535	NM_013382.7(POMT2):c.*927G>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 886631	NM_013382.7(POMT2):c.*809G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314536	NM_013382.7(POMT2):c.*790G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 886632	NM_013382.7(POMT2):c.*766C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314537	NM_013382.7(POMT2):c.*758G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 886633	NM_013382.7(POMT2):c.*727C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314538	NM_013382.7(POMT2):c.*693C>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314539	NM_013382.7(POMT2):c.*678AG[2]	POMT2	Microsatellite (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive	GUncertain significance
Select item 887879	NM_013382.7(POMT2):c.*637C>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314540	NM_013382.7(POMT2):c.*622C>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314541	NM_013382.7(POMT2):c.*606G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 887880	NM_013382.7(POMT2):c.*605C>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314542	NM_013382.7(POMT2):c.*605C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 887881	NM_013382.7(POMT2):c.*601G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314543	NM_013382.7(POMT2):c.*597C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314544	NM_013382.7(POMT2):c.*594G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314545	NM_013382.7(POMT2):c.*587G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 884734	NM_013382.7(POMT2):c.*574T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314546	NM_013382.7(POMT2):c.*433T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive	GUncertain significance
Select item 314547	NM_013382.7(POMT2):c.*349G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 884735	NM_013382.7(POMT2):c.*316C>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314548	NM_013382.7(POMT2):c.*289G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314549	NM_013382.7(POMT2):c.*196G>A	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 884736	NM_013382.7(POMT2):c.*186C>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 884737	NM_013382.7(POMT2):c.*176C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314550	NM_013382.7(POMT2):c.*119T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314551	NM_013382.7(POMT2):c.*103C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314552	NM_013382.7(POMT2):c.*75C>T	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314553	NM_013382.7(POMT2):c.*15T>C	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 885672	NM_013382.7(POMT2):c.*11A>G	POMT2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 665182	NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg)	POMT2	Single nucleotide variant (stop lost)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 1584731	NM_013382.7(POMT2):c.2250T>C (p.Phe750=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 3230	NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)	POMT2 (W748S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GPathogenic
Select item 3224	NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)	POMT2 (W748R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely pathogenic
Select item 2941779	NM_013382.7(POMT2):c.2241A>G (p.Ser747=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 705634	NM_013382.7(POMT2):c.2241A>T (p.Ser747=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 3423007	NM_013382.7(POMT2):c.2228G>A (p.Arg743Lys)	POMT2 (R743K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 471392	NM_013382.7(POMT2):c.2228G>T (p.Arg743Met)	POMT2 (R743M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 283477	NM_013382.7(POMT2):c.2223A>G (p.Gly741=)	POMT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1621836	NM_013382.7(POMT2):c.2214A>G (p.Pro738=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 451622	NM_013382.7(POMT2):c.2206del (p.Gln736fs)	POMT2 (Q736fs)	Deletion (frameshift variant)	not provided +3 more	GLikely pathogenic
Select item 2928984	NM_013382.7(POMT2):c.2205C>A (p.Pro735=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1331370	NM_013382.7(POMT2):c.2201del (p.Asp734fs)	POMT2 (D734fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 501676	NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)	POMT2 (Q733*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GConflicting classifications of pathogenicity

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