Related gene-specific medical variations for Gene (Select 60412) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091121	NM_021807.4(EXOC4):c.45C>G (p.Ser15Arg)	EXOC4, LOC129999386 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685270	GRCh37/hg19 7q33(chr7:132984304-133104509)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 2673130	NM_021807.4(EXOC4):c.1613A>G (p.Asn538Ser)	EXOC4, LOC101928861 (N538S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2542671	NM_021807.4(EXOC4):c.61T>C (p.Ser21Pro)	EXOC4, LOC129999386 (S21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809341	GRCh37/hg19 7q33(chr7:133649451-133785775)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 1808327	GRCh37/hg19 7q33(chr7:132973522-133076453)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 1340388	GRCh37/hg19 7q33(chr7:133180816-133321562)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 979799	GRCh37/hg19 7q33(chr7:133076743-133224105)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 815040	GRCh37/hg19 7q33(chr7:133596527-133759480)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 815039	GRCh37/hg19 7q33(chr7:133517355-133758029)x1	EXOC4	Copy number loss	not provided	GLikely benign
Select item 815038	GRCh37/hg19 7q33(chr7:132977705-133104509)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 781114	NM_021807.4(EXOC4):c.60C>T (p.Pro20=)	EXOC4, LOC129999386	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720425	NM_021807.4(EXOC4):c.1648G>A (p.Gly550Arg)	EXOC4, LOC101928861 (G550R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688680	GRCh37/hg19 7q33(chr7:132927271-133046934)x3	EXOC4	Copy number gain	not provided	GUncertain significance
Select item 688502	GRCh37/hg19 7q33(chr7:133294230-133386273)x3	EXOC4	Copy number gain	not provided	GUncertain significance
Select item 687949	GRCh37/hg19 7q33(chr7:133675594-133707562)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 687105	GRCh37/hg19 7q33(chr7:132986377-133391921)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 686572	GRCh37/hg19 7q33(chr7:133043069-133118553)x3	EXOC4	Copy number gain	not provided	GUncertain significance
Select item 684514	Single allele	EXOC4	Deletion	not provided	Gnot provided
Select item 563300	GRCh37/hg19 7q33(chr7:133308770-133425552)x1	EXOC4	Copy number loss	not provided	GUncertain significance
Select item 563271	GRCh37/hg19 7q33(chr7:133379881-133433717)x1	EXOC4	Copy number loss	not provided	GLikely benign
Select item 183330	NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)	LOC101928861, EXOC4 (Q578R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome	GLikely pathogenic

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Links from Gene

Items: 22