EMSY[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 726525	NM_001300942.2(EMSY):c.71-7C>T	EMSY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786203	NM_001300942.2(EMSY):c.170+7T>C	EMSY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2249299	NM_001300942.2(EMSY):c.178A>G (p.Thr60Ala)	EMSY (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786204	NM_001300942.2(EMSY):c.661C>A (p.Arg221=)	EMSY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2232861	NM_001300942.2(EMSY):c.853A>G (p.Thr285Ala)	EMSY (T271A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408837	NM_001300942.2(EMSY):c.1342C>A (p.Gln448Lys)	EMSY (Q434K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058884	NM_001300942.2(EMSY):c.1559-4G>A	EMSY	Single nucleotide variant (intron variant)	EMSY-related disorder	GBenign
Select item 781965	NM_001300942.2(EMSY):c.1730-7T>C	EMSY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636697	NM_001300942.2(EMSY):c.1730-5C>G	EMSY	Single nucleotide variant (intron variant)	EMSY-related disorder	GUncertain significance
Select item 2249827	NM_001300942.2(EMSY):c.2192A>G (p.Tyr731Cys)	EMSY (Y716C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030378	NM_001300942.2(EMSY):c.2261T>C (p.Val754Ala)	EMSY (V739A +2 more)	Single nucleotide variant (missense variant)	EMSY-related disorder	GLikely benign
Select item 712727	NM_001300942.2(EMSY):c.2906T>G (p.Leu969Arg)	EMSY (L954R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724258	NM_001300942.2(EMSY):c.2964G>A (p.Gln988=)	EMSY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346468	NM_001300942.2(EMSY):c.3172G>C (p.Val1058Leu)	EMSY (V1044L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245953	NM_001300942.2(EMSY):c.3268C>A (p.Gln1090Lys)	EMSY (Q1076K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385006	NM_001300942.2(EMSY):c.3686C>T (p.Pro1229Leu)	EMSY (P1214L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060664	NM_001300942.2(EMSY):c.3693T>C (p.Thr1231=)	EMSY	Single nucleotide variant (synonymous variant)	EMSY-related disorder	GBenign
Select item 2637381	NM_001300942.2(EMSY):c.3779A>G (p.Gln1260Arg)	EMSY (Q1245R +2 more)	Single nucleotide variant (missense variant)	EMSY-related disorder	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815441	GRCh37/hg19 11q13.5(chr11:76238742-76537128)x1	EMSY, LRRC32 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 28