"GeneDx"[submitter] AND "MSX1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 57825	GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3	CYTL1, LINC01396 +38 more	Copy number gain	See cases	GUncertain significance
Select item 57826	GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3	CYTL1, EVC +29 more	Copy number gain	See cases	GUncertain significance
Select item 1181980	NC_000004.12:g.4859346_4859355del	MSX1	Deletion	not provided	GBenign
Select item 1285892	NC_000004.12:g.4859396G>C	MSX1	Single nucleotide variant	not provided	GBenign
Select item 1258641	NC_000004.12:g.4859409G>T	MSX1	Single nucleotide variant	not provided	GBenign
Select item 1231228	NM_002448.3(MSX1):c.-18G>A	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3253517	NM_002448.3(MSX1):c.-2G>A	LOC129992137, MSX1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 461604	NM_002448.3(MSX1):c.86C>T (p.Ala29Val)	LOC129992137, MSX1 (A29V)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
Select item 1691818	NM_002448.3(MSX1):c.94G>T (p.Ala32Ser)	LOC129992137, MSX1 (A32S)	Single nucleotide variant	not provided	GUncertain significance
Select item 802050	NM_002448.3(MSX1):c.119C>G (p.Ala40Gly)	LOC129992137, MSX1 (A40G)	Single nucleotide variant (missense variant)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome +1 more	GBenign
Select item 1165584	NM_002448.3(MSX1):c.348C>T (p.Gly116=)	LOC129992137, MSX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3253075	NM_002448.3(MSX1):c.469+5G>A	MSX1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1164251	NM_002448.3(MSX1):c.469+46_469+56del	MSX1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1236951	NM_002448.3(MSX1):c.469+219G>A	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287269	NM_002448.3(MSX1):c.469+232A>T	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232521	NM_002448.3(MSX1):c.470-198A>G	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283263	NM_002448.3(MSX1):c.470-152A>G	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283067	NM_002448.3(MSX1):c.470-129G>A	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250675	NM_002448.3(MSX1):c.470-127C>A	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241303	NM_002448.3(MSX1):c.470-47A>G	MSX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2078308	NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)	MSX1 (W219R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2574296	NM_002448.3(MSX1):c.682A>G (p.Lys228Glu)	MSX1 (K228E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663748	NM_002448.3(MSX1):c.787G>C (p.Val263Leu)	MSX1 (V263L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1165757	NM_002448.3(MSX1):c.*6C>T	MSX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 530788	NM_002448.3(MSX1):c.*276A>G	MSX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253574	GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1	BLOC1S4, C4orf50 +26 more	Copy number loss	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

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Items: 33