Related gene-specific medical variations for Gene (Select 23233) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361304	NM_015189.3(EXOC6B):c.2T>C (p.Met1Thr)	EXOC6B (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3335928	NM_015189.3(EXOC6B):c.2122+1G>A	EXOC6B	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GLikely pathogenic
Select item 3062614	GRCh37/hg19 2p13.2(chr2:72547570-72763221)x1	EXOC6B	Copy number loss	not specified	GUncertain significance
Select item 3062613	GRCh37/hg19 2p13.2(chr2:72908697-72979393)x1	EXOC6B	Copy number loss	not specified	GUncertain significance
Select item 2684608	GRCh37/hg19 2p13.2(chr2:72487364-72766569)x1	EXOC6B	Copy number loss	not provided	GUncertain significance
Select item 2441307	NM_015189.3(EXOC6B):c.925G>T (p.Glu309Ter)	EXOC6B (E196* +1 more)	Single nucleotide variant (nonsense +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GUncertain significance
Select item 1943270	NM_015189.3(EXOC6B):c.113+14C>T	EXOC6B, LOC129934068	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801441	NM_015189.3(EXOC6B):c.2197-66917_2197-66916insTAAATATATTTTAATTAAATTACATTATTAAATATCAATCAG	EXOC6B	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1704251	NM_015189.1:c.2122+15447_2197-59588del	EXOC6B	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic
Select item 1635738	NM_015189.3(EXOC6B):c.113+14C>G	EXOC6B, LOC129934068	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526807	GRCh37/hg19 2p13.2(chr2:72598365-72720918)	EXOC6B	Copy number loss	not specified	GUncertain significance
Select item 686416	GRCh37/hg19 2p13.2(chr2:72547570-72763055)x1	EXOC6B	Copy number loss	not provided	GUncertain significance
Select item 625846	NG_050967.1:g.291668_510915del	EXOC6B	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic
Select item 562543	GRCh37/hg19 2p13.2(chr2:72503642-72716038)x1	EXOC6B	Copy number loss	not provided	GLikely pathogenic
Select item 562523	GRCh37/hg19 2p13.2(chr2:72547570-72679189)x1	EXOC6B	Copy number loss	not provided	GUncertain significance