CLDND2[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 1675755	NM_152353.3(CLDND2):c.471C>T (p.Thr157=)	CLDND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650373	NM_152353.3(CLDND2):c.429G>A (p.Ala143=)	CLDND2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3145544	NM_152353.3(CLDND2):c.406G>C (p.Ala136Pro)	CLDND2 (A136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145542	NM_152353.3(CLDND2):c.284C>G (p.Thr95Ser)	CLDND2 (T95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267636	NM_152353.3(CLDND2):c.265G>A (p.Glu89Lys)	CLDND2 (E89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215367	NM_152353.3(CLDND2):c.238G>A (p.Gly80Arg)	CLDND2 (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145540	NM_152353.3(CLDND2):c.164G>T (p.Cys55Phe)	CLDND2 (C55F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276138	NM_152353.3(CLDND2):c.161C>A (p.Pro54His)	CLDND2 (P54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145545	NM_152353.3(CLDND2):c.97C>T (p.Arg33Cys)	CLDND2 (R33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507830	NM_152353.3(CLDND2):c.88T>A (p.Tyr30Asn)	CLDND2 (Y30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601568	NM_152353.3(CLDND2):c.70C>G (p.Leu24Val)	CLDND2 (L24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145543	NM_152353.3(CLDND2):c.34A>C (p.Ile12Leu)	CLDND2 (I12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145541	NM_152353.3(CLDND2):c.16A>G (p.Ser6Gly)	CLDND2 (S6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314860	NM_152353.3(CLDND2):c.13C>T (p.Arg5Trp)	CLDND2 (R5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424337	NC_000019.9:g.(?_51727962)_(51890697_?)del	CD33, CLDND2 +6 more	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394612	GRCh37/hg19 19q13.41(chr19:51840736-51870742)x3	CLDND2, ETFB +1 more	Copy number gain	See cases	GLikely benign
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33