57190[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 680991	NM_020451.2(SELENON):c.-347A>G	SELENON	Single nucleotide variant	not provided	GBenign
Select item 1186264	NC_000001.11:g.25800001G>A	SELENON	Single nucleotide variant	not provided	GLikely benign
Select item 1210769	NC_000001.11:g.25800107A>C	SELENON	Single nucleotide variant	not provided	GLikely benign
Select item 1191543	NC_000001.11:g.25800121dup	SELENON	Duplication	not provided	GLikely benign
Select item 1189816	NC_000001.11:g.25800126_25800130del	SELENON	Deletion	not provided	GLikely benign
Select item 1193431	NC_000001.11:g.25800132T>G	SELENON	Single nucleotide variant	not provided	GLikely benign
Select item 665196	NM_020451.2(SELENON):c.-64_36del	SELENON	Deletion	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 511754	NM_020451.2(SELENON):c.-58_-47dup	SELENON	Duplication	not specified	GLikely benign
Select item 659413	NM_020451.2(SELENON):c.-55_183del	SELENON	Deletion	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 261269	NM_020451.2(SELENON):c.-42T>C	SELENON	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2418838	NM_020451.3(SELENON):c.-30_64del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 261268	NM_020451.3(SELENON):c.-35T>C	SELENON	Single nucleotide variant (5 prime UTR variant)	SEPN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 844164	NM_020451.3(SELENON):c.-26_12del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 514934	NM_020451.3(SELENON):c.-22_-13dup	SELENON	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 2113172	NM_020451.3(SELENON):c.-21_183+6del	SELENON	Deletion (splice donor variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2638502	NM_020451.3(SELENON):c.-14_-5dup	SELENON	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 2863453	NM_020451.3(SELENON):c.-10_135del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 373075	NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 193430	NM_020451.3(SELENON):c.-19G>C	SELENON	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 297022	NM_020451.3(SELENON):c.-14C>A	SELENON	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281599	NM_020451.3(SELENON):c.-12C>T	SELENON	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 876357	NM_020451.3(SELENON):c.-1C>A	SELENON	Single nucleotide variant (5 prime UTR variant)	SEPN1-related disorder	GUncertain significance
Select item 379511	NM_020451.3(SELENON):c.-1C>T	SELENON	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 4491	NM_020451.3(SELENON):c.1A>G (p.Met1Val)	SELENON (M1V)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +2 more	GPathogenic/Likely pathogenic
Select item 1701096	NM_020451.3(SELENON):c.2T>A (p.Met1Lys)	SELENON (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1445921	NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs)	SELENON (R5fs)	Insertion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 623320	NM_020451.3(SELENON):c.8_12dup (p.Arg5fs)	SELENON (R5fs)	Microsatellite (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 530813	NM_020451.3(SELENON):c.2T>C (p.Met1Thr)	SELENON (M1T)	Single nucleotide variant (missense variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 461632	NM_020451.3(SELENON):c.2T>G (p.Met1Arg)	SELENON (M1R)	Single nucleotide variant (missense variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 280406	NM_020451.3(SELENON):c.9_33del (p.Ala4fs)	SELENON (A4fs)	Deletion (frameshift variant +1 more)	Eichsfeld type congenital muscular dystrophy +1 more	GPathogenic
Select item 193432	NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	SELENON (Q8fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 426515	NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)	SELENON (G2C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 863279	NM_020451.3(SELENON):c.7C>G (p.Arg3Gly)	SELENON (R3G)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 290956	NM_020451.3(SELENON):c.7C>A (p.Arg3=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 384517	NM_020451.3(SELENON):c.9G>C (p.Arg3=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +1 more	GLikely benign
Select item 663642	NM_020451.3(SELENON):c.10G>C (p.Ala4Pro)	SELENON (A4P)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 461627	NM_020451.3(SELENON):c.10G>T (p.Ala4Ser)	SELENON (A4S)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1411446	NM_020451.3(SELENON):c.18_46del (p.Gly7fs)	SELENON (G7fs)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 193428	NM_020451.3(SELENON):c.14G>A (p.Arg5Gln)	SELENON (R5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913660	NM_020451.3(SELENON):c.16C>T (p.Pro6Ser)	SELENON (P6S)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1023267	NM_020451.3(SELENON):c.18G>A (p.Pro6=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 954787	NM_020451.3(SELENON):c.19_47dup (p.Ala18fs)	SELENON (A18fs)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 287960	NM_020451.3(SELENON):c.20G>A (p.Gly7Asp)	SELENON (G7D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140590	NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)	SELENON (G10R)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1365549	NM_020451.3(SELENON):c.28G>C (p.Gly10Arg)	SELENON (G10R)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1995856	NM_020451.3(SELENON):c.30G>C (p.Gly10=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1119310	NM_020451.3(SELENON):c.33G>A (p.Pro11=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2738504	NM_020451.3(SELENON):c.36C>T (p.Pro12=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2731692	NM_020451.3(SELENON):c.39C>T (p.Ser13=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 193429	NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)	SELENON (R25fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 95964	NM_020451.3(SELENON):c.42C>T (p.Pro14=)	SELENON	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2775591	NM_020451.3(SELENON):c.51C>G (p.Ala17=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1981907	NM_020451.3(SELENON):c.54G>T (p.Ala18=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1483960	NM_020451.3(SELENON):c.58C>T (p.Pro20Ser)	SELENON (P20S)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2764694	NM_020451.3(SELENON):c.59C>T (p.Pro20Leu)	SELENON (P20L)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2412662	NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)	SELENON (R26fs)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 843167	NM_020451.3(SELENON):c.65C>T (p.Ala22Val)	SELENON (A22V)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 3159537	NM_020451.3(SELENON):c.73C>A (p.Arg25Ser)	SELENON (R25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 261288	NM_020451.3(SELENON):c.81C>T (p.Arg27=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 650902	NM_020451.3(SELENON):c.82G>T (p.Ala28Ser)	SELENON (A28S)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1423841	NM_020451.3(SELENON):c.86G>A (p.Arg29His)	SELENON (R29H)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2197505	NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)	SELENON (A32P)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2185033	NM_020451.3(SELENON):c.99G>T (p.Leu33=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 796167	NM_020451.3(SELENON):c.99G>C (p.Leu33=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2899343	NM_020451.3(SELENON):c.102C>T (p.Leu34=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 95955	NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	SELENON (G35R)	Single nucleotide variant (missense variant)	SEPN1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2006215	NM_020451.3(SELENON):c.108C>T (p.Ala36=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2899777	NM_020451.3(SELENON):c.109C>T (p.Leu37=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 663297	NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup)	SELENON	Duplication (inframe_insertion)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1517338	NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup)	SELENON	Duplication (inframe_insertion)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 1501744	NM_020451.3(SELENON):c.123C>A (p.Ala41=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1136428	NM_020451.3(SELENON):c.123C>T (p.Ala41=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2776457	NM_020451.3(SELENON):c.126T>A (p.Ala42=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1374266	NM_020451.3(SELENON):c.136G>A (p.Val46Ile)	SELENON (V46I)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2419559	NM_020451.3(SELENON):c.142del (p.Val48fs)	SELENON (V48fs)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 1052161	NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr)	SELENON (C49Y)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2416985	NM_020451.3(SELENON):c.152G>A (p.Arg51His)	SELENON (R51H)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 2120479	NM_020451.3(SELENON):c.156C>T (p.His52=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 1453339	NM_020451.3(SELENON):c.160G>T (p.Glu54Ter)	SELENON (E54*)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 874396	NM_020451.3(SELENON):c.164C>T (p.Ala55Val)	SELENON (A55V)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +1 more	GUncertain significance
Select item 574438	NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)	SELENON (Q56*)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 2129135	NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)	SELENON (Q56P)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 388454	NM_020451.3(SELENON):c.171G>A (p.Ala57=)	SELENON	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1481839	NM_020451.3(SELENON):c.176C>A (p.Ala59Glu)	SELENON (A59E)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 631602	NM_020451.3(SELENON):c.180del (p.Gln61fs)	SELENON (Q61fs)	Deletion (frameshift variant)	Eichsfeld type congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 938334	NM_020451.3(SELENON):c.183+3C>T	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 702074	NM_020451.3(SELENON):c.183+10C>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 385142	NM_020451.3(SELENON):c.183+11G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +1 more	GLikely benign
Select item 193431	NM_020451.3(SELENON):c.183+14C>G	SELENON	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 669363	NM_020451.3(SELENON):c.183+116G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185798	NM_020451.3(SELENON):c.183+141G>T	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201085	NM_020451.3(SELENON):c.183+176G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680770	NM_020451.3(SELENON):c.183+298T>G	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680773	NM_020451.3(SELENON):c.183+299T>C	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669827	NM_020451.3(SELENON):c.184-109G>A	SELENON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1998730	NM_020451.3(SELENON):c.184-18G>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign
Select item 2844731	NM_020451.3(SELENON):c.184-16C>G	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy	GLikely benign

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