ClinVar for Gene (Select 123833537) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166688	NM_006714.5(SMPDL3A):c.22G>C (p.Val8Leu)	LOC123833537, SMPDL3A (V8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2377714	NM_006714.5(SMPDL3A):c.71C>T (p.Pro24Leu)	LOC123833537, SMPDL3A (P24L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286308	NM_006714.5(SMPDL3A):c.31C>G (p.Leu11Val)	LOC123833537, SMPDL3A (L11V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	ASF1A, CENPW +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	TRE-CTC1-7, TRMT11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic