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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 58223	GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1	IGF1R, LOC130058004 +17 more	Copy number loss	See cases	GUncertain significance
Select item 1231879	NM_145728.3(SYNM):c.1452G>A (p.Ser484=)	SYNM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 386702	NM_145728.3(SYNM):c.3114C>T (p.Ser1038=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder +1 more	GLikely benign
Select item 780010	NM_145728.3(SYNM):c.4284G>A (p.Val1428=)	SYNM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253543	GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	IGF1R, PCSK6 +19 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic