MSL1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2296257	NM_001365919.1(MSL1):c.905T>C (p.Leu302Pro)	MSL1 (L302P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256075	NM_001365919.1(MSL1):c.974G>C (p.Ser325Thr)	MSL1 (S325T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553539	NM_001365919.1(MSL1):c.1013C>T (p.Thr338Ile)	MSL1 (T338I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603135	NM_001365919.1(MSL1):c.1028C>T (p.Pro343Leu)	MSL1 (P80L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211605	NM_001365919.1(MSL1):c.1172G>A (p.Arg391Gln)	MSL1 (R128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483573	NM_001365919.1(MSL1):c.1250C>T (p.Ser417Leu)	MSL1 (S154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211611	NM_001365919.1(MSL1):c.1334C>A (p.Pro445Gln)	MSL1 (P445Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241495	NM_001365919.1(MSL1):c.1497T>G (p.Asp499Glu)	MSL1 (D483E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211616	NM_001365919.1(MSL1):c.1550G>T (p.Arg517Met)	MSL1 (R501M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211622	NM_001365919.1(MSL1):c.1769C>T (p.Pro590Leu)	MSL1 (P327L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211590	NM_001365919.1(MSL1):c.1790G>A (p.Arg597Gln)	MSL1 (R334Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516477	NM_001365919.1(MSL1):c.1813A>C (p.Lys605Gln)	MSL1 (K342Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic