1322[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 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 +397 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 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 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 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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 27