CLDND1[gene] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 3145539	NM_001040181.2(CLDND1):c.752G>C (p.Arg251Pro)	CLDND1 (R274P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335919	NM_001040181.2(CLDND1):c.745G>C (p.Ala249Pro)	CLDND1 (A249P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389591	NM_001040181.2(CLDND1):c.628G>A (p.Gly210Ser)	CLDND1 (G210S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540903	NM_001040181.2(CLDND1):c.602A>G (p.Lys201Arg)	CLDND1 (K106R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536827	NM_001040181.2(CLDND1):c.436G>A (p.Val146Met)	CLDND1 (V51M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493902	NM_001040181.2(CLDND1):c.346A>T (p.Met116Leu)	CLDND1 (M116L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281722	NM_001040181.2(CLDND1):c.256A>G (p.Lys86Glu)	CLDND1 (K109E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145537	NM_001040181.2(CLDND1):c.254C>G (p.Pro85Arg)	CLDND1 (P85R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310961	NM_001040181.2(CLDND1):c.212A>G (p.Tyr71Cys)	CLDND1 (Y94C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330574	NM_001040181.2(CLDND1):c.196G>A (p.Asp66Asn)	CLDND1 (D89N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615723	NM_001040181.2(CLDND1):c.188C>A (p.Thr63Asn)	CLDND1 (T63N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267635	NM_001040181.2(CLDND1):c.182A>G (p.Glu61Gly)	CLDND1 (E61G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398943	NM_001040181.2(CLDND1):c.146G>C (p.Ser49Thr)	CLDND1 (S49T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557716	NM_001040181.2(CLDND1):c.79A>G (p.Ile27Val)	CLDND1 (I27V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361318	NM_001040181.2(CLDND1):c.74C>T (p.Ala25Val)	CLDND1 (A25V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145538	NM_001040181.2(CLDND1):c.-18-215C>A	CLDND1 (S16Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267634	NM_001040181.2(CLDND1):c.-18-230C>T	CLDND1 (S11F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814467	GRCh37/hg19 3q11.2(chr3:97994048-98260542)x3	OR5K4, CLDND1 +5 more	Copy number gain	not provided	GLikely benign
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 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: 30