"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MSL3"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2659991	NM_078629.4(MSL3):c.102+438C>T	MSL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659992	NM_078629.4(MSL3):c.320C>G (p.Pro107Arg)	MSL3 (P107R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335752	NM_078629.4(MSL3):c.384A>G (p.Ser128=)	MSL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2409871	NM_078629.4(MSL3):c.520A>G (p.Ile174Val)	MSL3 (I162V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2659993	NM_078629.4(MSL3):c.723C>T (p.Asn241=)	MSL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659994	NM_078629.4(MSL3):c.735C>A (p.Ile245=)	MSL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299172	NM_078629.4(MSL3):c.909-5C>T	MSL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579088	NM_078629.4(MSL3):c.1125G>A (p.Gln375=)	MSL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659995	NM_078629.4(MSL3):c.1180G>A (p.Val394Met)	MSL3 (V228M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659996	NM_078629.4(MSL3):c.1194A>C (p.Ser398=)	MSL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659997	NM_078629.4(MSL3):c.1221C>A (p.Ser407Arg)	MSL3 (S241R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026513	NM_078629.4(MSL3):c.1357G>A (p.Ala453Thr)	MSL3 (A287T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659998	NM_078629.4(MSL3):c.1436C>T (p.Ala479Val)	MSL3 (A313V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659999	NM_078629.4(MSL3):c.1467-5T>C	MSL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance