MAK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 155113	GRCh38/hg38 6p24.3-24.2(chr6:10542021-10810835)x1	C6orf52, GCNT2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149264	GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1	C6orf52, ELOVL2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 354768	NM_001242957.3(MAK):c.*1688C>A	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GBenign
Select item 354769	NM_001242957.3(MAK):c.*1563G>A	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354770	NM_001242957.3(MAK):c.1436_1438del	MAK	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354771	NM_001242957.3(MAK):c.*1420AAT[2]	MAK	Microsatellite (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354772	NM_001242957.3(MAK):c.*1373C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GBenign
Select item 354773	NM_001242957.3(MAK):c.*1347C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354774	NM_001242957.3(MAK):c.*966C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354775	NM_001242957.3(MAK):c.*905del	MAK	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GBenign
Select item 354776	NM_001242957.3(MAK):c.*728C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354777	NM_001242957.3(MAK):c.*601dup	MAK	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 354778	NM_001242957.3(MAK):c.331_332dup	MAK	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354779	NM_001242957.3(MAK):c.311_312dup	MAK	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354780	NM_001242957.3(MAK):c.*279A>C	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354781	NM_001242957.3(MAK):c.*226G>A	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 354782	NM_001242957.3(MAK):c.*34C>T	MAK	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 2719970	NM_001242957.3(MAK):c.1947G>A (p.Ter649=)	MAK	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2844368	NM_001242957.3(MAK):c.1944G>A (p.Arg648=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2477985	NM_001242957.3(MAK):c.1943G>A (p.Arg648Gln)	MAK (R583Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1493372	NM_001242957.3(MAK):c.1942C>T (p.Arg648Trp)	MAK (R549W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747564	NM_001242957.3(MAK):c.1938C>G (p.Gly646=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1326972	NM_001242957.3(MAK):c.1930T>C (p.Tyr644His)	MAK (Y545H +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 62 +1 more	GUncertain significance
Select item 2495091	NM_001242957.3(MAK):c.1910G>A (p.Arg637Lys)	MAK (R612K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1121179	NM_001242957.3(MAK):c.1908G>A (p.Gly636=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2304388	NM_001242957.3(MAK):c.1906G>A (p.Gly636Arg)	MAK (G571R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1035415	NM_001242957.3(MAK):c.1905_1906inv (p.Gly636Arg)	MAK (G636R +3 more)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 354783	NM_001242957.3(MAK):c.1905T>C (p.His635=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 62 +2 more	GBenign
Select item 2722355	NM_001242957.3(MAK):c.1902G>A (p.Val634=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1060102	NM_001242957.3(MAK):c.1895C>T (p.Pro632Leu)	MAK (P533L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1510297	NM_001242957.3(MAK):c.1880G>A (p.Arg627His)	MAK (R528H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819685	NM_001242957.3(MAK):c.1875G>A (p.Val625=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1053628	NM_001242957.3(MAK):c.1870A>G (p.Ile624Val)	MAK (I525V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1379524	NM_001242957.3(MAK):c.1864del (p.Asn621_Leu622insTer)	MAK	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 2013120	NM_001242957.3(MAK):c.1862A>C (p.Asn621Thr)	MAK (N522T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2057135	NM_001242957.3(MAK):c.1861A>G (p.Asn621Asp)	MAK (N522D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941440	NM_001242957.3(MAK):c.1855G>A (p.Ala619Thr)	MAK (A619T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2738625	NM_001242957.3(MAK):c.1851T>C (p.Pro617=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1382753	NM_001242957.3(MAK):c.1850C>G (p.Pro617Arg)	MAK (P518R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160095	NM_001242957.3(MAK):c.1849C>G (p.Pro617Ala)	MAK (P552A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 957290	NM_001242957.3(MAK):c.1847A>C (p.Asn616Thr)	MAK (N517T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057419	NM_001242957.3(MAK):c.1846A>G (p.Asn616Asp)	MAK (N517D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1993233	NM_001242957.3(MAK):c.1845T>G (p.Tyr615Ter)	MAK (Y590* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1360235	NM_001242957.3(MAK):c.1841C>T (p.Thr614Ile)	MAK (T589I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393941	NM_001242957.3(MAK):c.1838G>A (p.Arg613His)	MAK (R588H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1021873	NM_001242957.3(MAK):c.1837C>T (p.Arg613Cys)	MAK (R514C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 782820	NM_001242957.3(MAK):c.1836A>G (p.Gly612=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1448732	NM_001242957.3(MAK):c.1835G>A (p.Gly612Glu)	MAK (G547E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 951611	NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)	MAK (G587R +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 62 +1 more	GConflicting classifications of pathogenicity
Select item 970397	NM_001242957.3(MAK):c.1832C>T (p.Ser611Leu)	MAK (S512L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3027706	NM_001242957.3(MAK):c.1830T>C (p.Phe610=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GBenign
Select item 848187	NM_001242957.3(MAK):c.1829T>A (p.Phe610Tyr)	MAK (F511Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3122303	NM_001242957.3(MAK):c.1822G>A (p.Gly608Arg)	MAK (G608R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2121624	NM_001242957.3(MAK):c.1818_1821del (p.Arg607fs)	MAK (R607fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 853444	NM_001242957.3(MAK):c.1820G>A (p.Arg607Gln)	MAK (R508Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 451075	NM_001242957.3(MAK):c.1819C>T (p.Arg607Trp)	MAK (R607W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1589989	NM_001242957.3(MAK):c.1815T>A (p.Thr605=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 354784	NM_001242957.3(MAK):c.1815T>C (p.Thr605=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 1878221	NM_001242957.3(MAK):c.1802G>A (p.Trp601Ter)	MAK (W502* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2107268	NM_001242957.3(MAK):c.1793-10T>C	MAK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2024747	NM_001242957.3(MAK):c.1793-12G>A	MAK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618524	NM_001242957.3(MAK):c.1793-12G>C	MAK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530166	NM_001242957.3(MAK):c.1792+20_1792+21del	MAK	Deletion (intron variant)	not provided	GLikely benign
Select item 1964360	NM_001242957.3(MAK):c.1792+18T>C	MAK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034082	NM_001242957.3(MAK):c.1792+17A>T	MAK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869907	NM_001242957.3(MAK):c.1792+16G>C	MAK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793282	NM_001242957.3(MAK):c.1792+8dup	MAK	Duplication (intron variant)	not provided	GLikely benign
Select item 2970041	NM_001242957.3(MAK):c.1792+7A>G	MAK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1085779	NM_001242957.3(MAK):c.1785G>A (p.Thr595=)	MAK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1011692	NM_001242957.3(MAK):c.1784C>T (p.Thr595Met)	MAK (T570M +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 354787	NM_001242957.3(MAK):c.1778A>G (p.Asn593Ser)	MAK (N593S +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 2187131	NM_001242957.3(MAK):c.1775T>C (p.Leu592Pro)	MAK (L592P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1053237	NM_001242957.3(MAK):c.1768G>A (p.Ala590Thr)	MAK (A565T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2078899	NM_001242957.3(MAK):c.1765T>C (p.Leu589=)	MAK	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1501482	NM_001242957.3(MAK):c.1764dup (p.Ala590fs)	MAK (A565fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1060977	NM_001242957.3(MAK):c.1765T>G (p.Leu589Val)	MAK (L564V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 354788	NM_001242957.3(MAK):c.1762C>T (p.His588Tyr)	MAK (H588Y +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 2778343	NM_001242957.3(MAK):c.1749T>C (p.Ala583=)	MAK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2809478	NM_001242957.3(MAK):c.1741C>T (p.Gln581Ter)	MAK (Q556* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2772051	NM_001242957.3(MAK):c.1740G>C (p.Val580=)	MAK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1059390	NM_001242957.3(MAK):c.1739T>C (p.Val580Ala)	MAK (V555A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1379938	NM_001242957.3(MAK):c.1732A>C (p.Lys578Gln)	MAK (K578Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1076305	NM_001242957.3(MAK):c.1721_1724del (p.Ser574fs)	MAK (S549fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 729055	NM_001242957.3(MAK):c.1723T>C (p.Phe575Leu)	MAK (F575L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2794424	NM_001242957.3(MAK):c.1722C>T (p.Ser574=)	MAK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 194362	NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)	MAK (I572T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1498423	NM_001242957.3(MAK):c.1712A>G (p.Tyr571Cys)	MAK (Y571C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

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