4438[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 584254	NC_000001.11:g.(?_75541435)_(76074884_?)del	ACADM, ASB17 +21 more	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3211356	NM_002440.4(MSH4):c.23C>T (p.Ser8Leu)	MSH4 (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408066	NM_002440.4(MSH4):c.37G>A (p.Ala13Thr)	MSH4 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211385	NM_002440.4(MSH4):c.41C>T (p.Pro14Leu)	MSH4 (P14L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211396	NM_002440.4(MSH4):c.56C>T (p.Ser19Leu)	MSH4 (S19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638885	NM_002440.4(MSH4):c.71G>T (p.Arg24Leu)	MSH4 (R24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2587917	NM_002440.4(MSH4):c.89G>C (p.Arg30Pro)	MSH4 (R30P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258664	NM_002440.4(MSH4):c.89G>T (p.Arg30Leu)	MSH4 (R30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323094	NM_002440.4(MSH4):c.92A>G (p.Tyr31Cys)	MSH4 (Y31C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353610	NM_002440.4(MSH4):c.103C>A (p.Leu35Ile)	MSH4 (L35I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257210	NM_002440.4(MSH4):c.113C>T (p.Thr38Ile)	MSH4 (T38I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2262566	NM_002440.4(MSH4):c.120G>T (p.Gln40His)	MSH4 (Q40H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398789	NM_002440.4(MSH4):c.122G>A (p.Ser41Asn)	MSH4 (S41N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357236	NM_002440.4(MSH4):c.167C>T (p.Thr56Met)	MSH4 (T56M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211342	NM_002440.4(MSH4):c.215G>A (p.Cys72Tyr)	MSH4 (C72Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554679	NM_002440.4(MSH4):c.223C>A (p.Pro75Thr)	MSH4 (P75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478648	NM_002440.4(MSH4):c.245G>C (p.Gly82Ala)	MSH4 (G82A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585667	NM_002440.4(MSH4):c.289G>A (p.Ala97Thr)	MSH4 (A97T)	Single nucleotide variant (missense variant)	Premature ovarian failure 20 +1 more	GBenign
Select item 3398804	NM_002440.4(MSH4):c.403T>A (p.Trp135Arg)	MSH4 (W135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211382	NM_002440.4(MSH4):c.403T>C (p.Trp135Arg)	MSH4 (W135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398800	NM_002440.4(MSH4):c.455A>T (p.His152Leu)	MSH4 (H152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211388	NM_002440.4(MSH4):c.486A>T (p.Glu162Asp)	MSH4 (E162D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211391	NM_002440.4(MSH4):c.540C>A (p.Asn180Lys)	MSH4 (N180K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3398796	NM_002440.4(MSH4):c.583G>A (p.Ala195Thr)	MSH4 (A195T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207500	NM_002440.4(MSH4):c.625A>G (p.Ile209Val)	MSH4 (I209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211402	NM_002440.4(MSH4):c.647G>T (p.Cys216Phe)	MSH4 (C216F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296324	NM_002440.4(MSH4):c.719T>C (p.Ile240Thr)	MSH4 (I240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301191	NM_002440.4(MSH4):c.738T>A (p.Asn246Lys)	MSH4 (N246K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507832	NM_002440.4(MSH4):c.760A>G (p.Ile254Val)	MSH4 (I254V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693502	NM_002440.4(MSH4):c.805_812del (p.Val269fs)	MSH4 (V269fs)	Deletion (frameshift variant)	Spermatogenic failure 2	GPathogenic
Select item 3398799	NM_002440.4(MSH4):c.878T>A (p.Val293Asp)	MSH4 (V293D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211410	NM_002440.4(MSH4):c.878T>C (p.Val293Ala)	MSH4 (V293A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211417	NM_002440.4(MSH4):c.925A>G (p.Thr309Ala)	MSH4 (T309A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211421	NM_002440.4(MSH4):c.929C>T (p.Ala310Val)	MSH4 (A310V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398793	NM_002440.4(MSH4):c.974A>C (p.Asn325Thr)	MSH4 (N325T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256043	NM_002440.4(MSH4):c.1025C>T (p.Thr342Ile)	MSH4 (T342I)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2243869	NM_002440.4(MSH4):c.1033C>G (p.Pro345Ala)	MSH4 (P345A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255997	NM_002440.4(MSH4):c.1063A>G (p.Ile355Val)	MSH4 (I355V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 3296321	NM_002440.4(MSH4):c.1089A>T (p.Glu363Asp)	MSH4 (E363D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296320	NM_002440.4(MSH4):c.1167A>G (p.Ile389Met)	MSH4 (I389M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211293	NM_002440.4(MSH4):c.1232T>C (p.Val411Ala)	MSH4 (V411A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265262	NM_002440.4(MSH4):c.1262T>C (p.Leu421Ser)	MSH4 (L421S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311703	NM_002440.4(MSH4):c.1355C>A (p.Ser452Tyr)	MSH4 (S452Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026173	NM_002440.4(MSH4):c.1433G>A (p.Gly478Glu)	MSH4 (G478E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3398806	NM_002440.4(MSH4):c.1447A>T (p.Arg483Trp)	MSH4 (R483W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992887	NM_002440.4(MSH4):c.1453C>T (p.Gln485Ter)	MSH4 (Q485*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GLikely pathogenic
Select item 3211303	NM_002440.4(MSH4):c.1468G>T (p.Val490Leu)	MSH4 (V490L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709020	NM_002440.4(MSH4):c.1480A>G (p.Ile494Val)	MSH4 (I494V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3211307	NM_002440.4(MSH4):c.1529A>G (p.Asp510Gly)	MSH4 (D510G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585668	NM_002440.4(MSH4):c.1540+8C>A	MSH4	Single nucleotide variant (intron variant)	Premature ovarian failure 20 +1 more	GBenign
Select item 1693500	NM_002440.4(MSH4):c.1552C>T (p.Gln518Ter)	MSH4	Single nucleotide variant (nonsense)	Spermatogenic failure 2	GPathogenic
Select item 3025715	NM_002440.4(MSH4):c.1560A>G (p.Gly520=)	MSH4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2585669	NM_002440.4(MSH4):c.1569T>C (p.Tyr523=)	MSH4	Single nucleotide variant (synonymous variant)	Premature ovarian failure 20 +1 more	GBenign
Select item 2585670	NM_002440.4(MSH4):c.1575A>T (p.Leu525=)	MSH4	Single nucleotide variant (synonymous variant)	Spermatogenic failure 2 +1 more	GBenign
Select item 3296322	NM_002440.4(MSH4):c.1583G>A (p.Arg528Lys)	MSH4 (R528K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489218	NM_002440.4(MSH4):c.1604G>A (p.Arg535Gln)	MSH4 (R535Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992888	NM_002440.4(MSH4):c.1686del (p.Lys562_Val563insTer)	MSH4	Deletion (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2498406	NM_002440.4(MSH4):c.1766A>G (p.Tyr589Cys)	MSH4 (Y589C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3398805	NM_002440.4(MSH4):c.1778A>G (p.Tyr593Cys)	MSH4 (Y593C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585671	NM_002440.4(MSH4):c.1782-11_1782-10insAT	MSH4	Insertion (intron variant)	Spermatogenic failure 2 +1 more	GBenign
Select item 2492375	NM_002440.4(MSH4):c.1782G>T (p.Met594Ile)	MSH4 (M594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211319	NM_002440.4(MSH4):c.1785A>G (p.Ile595Met)	MSH4 (I595M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256012	NM_002440.4(MSH4):c.1855A>G (p.Met619Val)	MSH4 (M619V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 3398801	NM_002440.4(MSH4):c.1864A>C (p.Met622Leu)	MSH4 (M622L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211326	NM_002440.4(MSH4):c.1865T>C (p.Met622Thr)	MSH4 (M622T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767679	NM_002440.4(MSH4):c.1906+8G>T	MSH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693503	NM_002440.4(MSH4):c.1950G>A (p.Trp650Ter)	MSH4 (W650*)	Single nucleotide variant (nonsense)	Spermatogenic failure 2	GPathogenic
Select item 2550340	NM_002440.4(MSH4):c.1954C>T (p.Pro652Ser)	MSH4 (P652S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398803	NM_002440.4(MSH4):c.1994A>G (p.Asn665Ser)	MSH4 (N665S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211334	NM_002440.4(MSH4):c.2000C>A (p.Thr667Asn)	MSH4 (T667N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398794	NM_002440.4(MSH4):c.2028G>T (p.Leu676Phe)	MSH4 (L676F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398795	NM_002440.4(MSH4):c.2041C>T (p.Pro681Ser)	MSH4 (P681S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296326	NM_002440.4(MSH4):c.2093T>C (p.Ile698Thr)	MSH4 (I698T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296325	NM_002440.4(MSH4):c.2129A>G (p.Tyr710Cys)	MSH4 (Y710C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590752	NM_002440.4(MSH4):c.2155A>G (p.Ile719Val)	MSH4 (I719V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693504	NM_002440.4(MSH4):c.2179del (p.Asp727fs)	MSH4 (D727fs)	Deletion (frameshift variant)	Spermatogenic failure 2	GPathogenic
Select item 2269758	NM_002440.4(MSH4):c.2195A>T (p.Asn732Ile)	MSH4 (N732I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992889	NM_002440.4(MSH4):c.2198C>A (p.Ser733Ter)	MSH4 (S733*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1256044	NM_002440.4(MSH4):c.2222_2225del (p.Lys741fs)	MSH4 (K741fs)	Deletion (frameshift variant)	Spermatogenic failure 2 +1 more	GPathogenic
Select item 3296323	NM_002440.4(MSH4):c.2227A>G (p.Ile743Val)	MSH4 (I743V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398797	NM_002440.4(MSH4):c.2234A>G (p.Tyr745Cys)	MSH4 (Y745C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 869115	NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)	MSH4 (S754L)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +2 more	GPathogenic/Likely pathogenic
Select item 1693499	NM_002440.4(MSH4):c.2355+1G>A	MSH4	Single nucleotide variant (splice donor variant)	Premature ovarian failure 20	GPathogenic
Select item 1256001	NM_002440.4(MSH4):c.2374A>G (p.Thr792Ala)	MSH4 (T792A)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2304719	NM_002440.4(MSH4):c.2375C>T (p.Thr792Ile)	MSH4 (T792I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458090	NM_002440.4(MSH4):c.2471A>C (p.Lys824Thr)	MSH4 (K824T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206348	NM_002440.4(MSH4):c.2520G>C (p.Glu840Asp)	MSH4 (E840D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2295447	NM_002440.4(MSH4):c.2561C>T (p.Pro854Leu)	MSH4 (P854L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512963	NM_002440.4(MSH4):c.2585A>G (p.Lys862Arg)	MSH4 (K862R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3398792	NM_002440.4(MSH4):c.2593A>G (p.Thr865Ala)	MSH4 (T865A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3345903	NM_002440.4(MSH4):c.2620-10del	MSH4	Deletion (intron variant)	MSH4-related condition	GLikely benign
Select item 3398791	NM_002440.4(MSH4):c.2626C>G (p.Gln876Glu)	MSH4 (Q876E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211371	NM_002440.4(MSH4):c.2645T>A (p.Met882Lys)	MSH4 (M882K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211375	NM_002440.4(MSH4):c.2646G>T (p.Met882Ile)	MSH4 (M882I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248589	NM_002440.4(MSH4):c.2666A>T (p.Tyr889Phe)	MSH4 (Y889F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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