Related gene-specific medical variations for Gene (Select 114784) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 22

	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 3106268	NM_001379301.1(HMGB4):c.463G>A (p.Glu155Lys)	CSMD2, HMGB4 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106267	NM_001379301.1(HMGB4):c.428A>T (p.Glu143Val)	CSMD2, HMGB4 (E69V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106266	NM_001379301.1(HMGB4):c.347C>T (p.Pro116Leu)	CSMD2, HMGB4 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106265	NM_001379301.1(HMGB4):c.179A>G (p.Tyr60Cys)	CSMD2, HMGB4 (Y60C)	Single nucleotide variant (5 prime UTR variant +2 more)	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 2590644	NM_001379301.1(HMGB4):c.530G>C (p.Arg177Pro)	CSMD2, HMGB4 (R103P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2388433	NM_001379301.1(HMGB4):c.140A>T (p.Glu47Val)	CSMD2, HMGB4 (E47V)	Single nucleotide variant (5 prime UTR variant +2 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 2312891	NM_001379301.1(HMGB4):c.354G>T (p.Trp118Cys)	CSMD2, HMGB4 (W44C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271975	NM_001379301.1(HMGB4):c.125C>T (p.Ser42Phe)	CSMD2, HMGB4 (S42F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229065	NM_001379301.1(HMGB4):c.188T>C (p.Leu63Pro)	CSMD2, HMGB4 (L63P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 688735	GRCh37/hg19 1p35.1(chr1:34162214-34206220)x3	CSMD2	Copy number gain	not provided	GUncertain significance
Select item 161791	NM_001281956.2(CSMD2):c.7808G>T (p.Arg2603Leu)	CSMD2 (R2605L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 22