"GeneDx"[submitter] AND "MSL3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 60268	GRCh38/hg38 Xp22.2(chrX:11658644-12174505)x2	ARHGAP6, FRMPD4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2500471	NM_078629.4(MSL3):c.229G>C (p.Asp77His)	MSL3 (D65H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253512	NM_078629.4(MSL3):c.266A>C (p.Lys89Thr)	MSL3 (K77T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504245	NM_078629.4(MSL3):c.742G>C (p.Glu248Gln)	MSL3 (E236Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314689	NM_078629.4(MSL3):c.844T>C (p.Tyr282His)	MSL3 (Y116H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309692	NM_078629.4(MSL3):c.890G>A (p.Ser297Asn)	MSL3 (S131N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377869	NM_078629.4(MSL3):c.928C>T (p.Pro310Ser)	MSL3 (P144S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707503	NM_078629.4(MSL3):c.973_974del (p.Gln326fs)	MSL3 (Q160fs +3 more)	Microsatellite (frameshift variant)	Basilicata-Akhtar syndrome +1 more	GPathogenic
Select item 3364804	NM_078629.4(MSL3):c.985A>G (p.Thr329Ala)	MSL3 (T163A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708851	NM_078629.4(MSL3):c.1004C>T (p.Pro335Leu)	MSL3 (P169L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326067	NM_078629.4(MSL3):c.1013G>A (p.Arg338His)	MSL3 (R172H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252188	NM_078629.4(MSL3):c.1034T>C (p.Leu345Ser)	MSL3 (L179S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487566	NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)	MSL3 (Q180* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 1302329	NM_078629.4(MSL3):c.1040C>G (p.Ser347Cys)	MSL3 (S181C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369532	NM_078629.4(MSL3):c.1139G>C (p.Ser380Thr)	MSL3 (S214T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573745	NM_078629.4(MSL3):c.1148A>G (p.Lys383Arg)	MSL3 (K217R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817495	NM_078629.4(MSL3):c.1168_1169del (p.Lys390fs)	MSL3 (K224fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2499900	NM_078629.4(MSL3):c.1171+73G>C	MSL3 (W415S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1203453	NM_078629.4(MSL3):c.1171+74G>A	MSL3 (W415*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1310868	NM_078629.4(MSL3):c.1186A>C (p.Ser396Arg)	MSL3 (S230R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504431	NM_078629.4(MSL3):c.1193C>A (p.Ser398Ter)	MSL3 (S232* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1693369	NM_078629.4(MSL3):c.1214C>G (p.Thr405Ser)	MSL3 (T239S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370657	NM_078629.4(MSL3):c.1229G>A (p.Gly410Glu)	MSL3 (G244E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576920	NM_078629.4(MSL3):c.1237G>A (p.Val413Met)	MSL3 (V247M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363368	NM_078629.4(MSL3):c.1306G>C (p.Asp436His)	MSL3 (D270H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817066	NM_078629.4(MSL3):c.1319dup (p.Gly441fs)	MSL3 (G275fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2501817	NM_078629.4(MSL3):c.1357G>C (p.Ala453Pro)	MSL3 (A287P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487568	NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)	MSL3 (R292* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 3340966	NM_078629.4(MSL3):c.1373G>A (p.Arg458Gln)	MSL3 (R292Q +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1712681	NM_078629.4(MSL3):c.1489G>A (p.Asp497Asn)	MSL3 (D331N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576643	NM_078629.4(MSL3):c.1505C>T (p.Ser502Leu)	MSL3 (S336L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501380	NM_078629.4(MSL3):c.1562A>T (p.Tyr521Phe)	MSL3 (Y355F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253612	GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1	ARSF, XG +28 more	Copy number loss	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360928	NM_078629.4(MSL3):c.965C>T (p.Ser322Phe)	MSL3 (S156F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360828	NM_078629.4(MSL3):c.1387C>G (p.Leu463Val)	MSL3 (L297V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53