ClinVar for Gene (Select 126805691) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269846	NM_001281956.2(CSMD2):c.6427G>C (p.Val2143Leu)	CSMD2, LOC126805691 (V2143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078187	NM_001281956.2(CSMD2):c.6389G>C (p.Gly2130Ala)	LOC126805691, CSMD2 (G2130A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078186	NM_001281956.2(CSMD2):c.6347A>G (p.Tyr2116Cys)	CSMD2, LOC126805691 (Y2118C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078183	NM_001281956.2(CSMD2):c.6344-435G>A	CSMD2, LOC126805691 (V2103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078182	NM_001281956.2(CSMD2):c.6344-463G>C	CSMD2, LOC126805691 (E2093D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2512306	NM_001281956.2(CSMD2):c.6344-429G>A	CSMD2, LOC126805691 (A2105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466467	NM_001281956.2(CSMD2):c.6344-473A>G	CSMD2, LOC126805691 (D2090G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403983	NM_001281956.2(CSMD2):c.6344-422A>G	CSMD2, LOC126805691 (Y2107C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358111	NM_001281956.2(CSMD2):c.6344-423T>C	CSMD2, LOC126805691 (Y2107H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343804	NM_001281956.2(CSMD2):c.6344-453A>G	CSMD2, LOC126805691 (T2097A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334881	NM_001281956.2(CSMD2):c.6446C>T (p.Pro2149Leu)	CSMD2, LOC126805691 (P2149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 145637	GRCh38/hg38 1p35.1(chr1:33411353-33916406)x3	CSMD2, CSMD2-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 57241	GRCh38/hg38 1p35.1-34.3(chr1:33564892-34725930)x3	C1orf94, CSMD2 +14 more	Copy number gain	See cases	GUncertain significance