LOC126862484[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Dyskeratosis congenita +2 more	GPathogenic
Select item 1301552	NM_001005273.3(CHD3):c.812G>T (p.Arg271Leu)	CHD3, LOC126862484 (R271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647425	NM_001005273.3(CHD3):c.841C>T (p.Arg281Cys)	CHD3, LOC126862484 (R281C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032672	NM_001005273.3(CHD3):c.842G>A (p.Arg281His)	CHD3, LOC126862484 (R281H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 560242	NM_001005273.3(CHD3):c.887T>C (p.Leu296Pro)	CHD3, LOC126862484 (L355P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025453	NM_001005273.3(CHD3):c.924G>A (p.Ser308=)	CHD3, LOC126862484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057398	NM_001005273.3(CHD3):c.924+6dup	CHD3, LOC126862484	Duplication (intron variant)	CHD3-related disorder	GLikely benign
Select item 2241299	NM_001005273.3(CHD3):c.977T>A (p.Leu326Gln)	CHD3, LOC126862484 (L385Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1809995	NM_001005273.3(CHD3):c.982A>G (p.Ser328Gly)	CHD3, LOC126862484 (S328G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144103	NM_001005273.3(CHD3):c.1000G>C (p.Ala334Pro)	CHD3, LOC126862484 (A334P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144104	NM_001005273.3(CHD3):c.1028G>A (p.Arg343His)	CHD3, LOC126862484 (R402H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144106	NM_001005273.3(CHD3):c.1049G>A (p.Gly350Asp)	CHD3, LOC126862484 (G409D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283726	NM_001005273.3(CHD3):c.1057G>A (p.Gly353Arg)	CHD3, LOC126862484 (G412R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305027	NM_001005273.3(CHD3):c.1069A>C (p.Lys357Gln)	CHD3, LOC126862484 (K357Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285450	NM_001005273.3(CHD3):c.1123G>A (p.Glu375Lys)	CHD3, LOC126862484 (E375K +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2545661	NM_001005273.3(CHD3):c.1163G>A (p.Gly388Asp)	CHD3, LOC126862484 (G447D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567607	NM_001005273.3(CHD3):c.1235G>A (p.Arg412Gln)	CHD3, LOC126862484 (R471Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1690903	NM_001005273.3(CHD3):c.1249A>C (p.Lys417Gln)	CHD3, LOC126862484 (K417Q +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3027216	NM_001005273.3(CHD3):c.1256G>A (p.Ser419Asn)	CHD3, LOC126862484 (S419N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977382	NM_001005273.3(CHD3):c.1282G>A (p.Val428Ile)	CHD3, LOC126862484 (V428I +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance

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Items: 27