LOC126860807[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59397	GRCh38/hg38 10p15.3(chr10:14062-622709)x1	DIP2C, LOC102723376 +14 more	Copy number loss	See cases	GUncertain significance
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150117	GRCh38/hg38 10p15.3(chr10:70478-770688)x1	DIP2C, DIP2C-AS1 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 148516	GRCh38/hg38 10p15.3(chr10:70478-457520)x1	DIP2C, LOC124403897 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 153334	GRCh38/hg38 10p15.3(chr10:113358-557294)x1	DIP2C, LOC106783507 +10 more	Copy number loss	See cases	GUncertain significance
Select item 57851	GRCh38/hg38 10p15.3(chr10:180143-550594)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 155262	GRCh38/hg38 10p15.3(chr10:232912-578344)x4	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57852	GRCh38/hg38 10p15.3(chr10:248232-587589)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154721	GRCh38/hg38 10p15.3(chr10:378126-457520)x1	DIP2C, LOC126860807	Copy number loss	See cases	GUncertain significance
Select item 149210	GRCh38/hg38 10p15.3(chr10:405014-457520)x1	DIP2C, LOC126860807	Copy number loss	See cases	GUncertain significance
Select item 2081483	NM_014974.3(DIP2C):c.837T>C (p.Asp279=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594263	NM_014974.3(DIP2C):c.834C>T (p.Val278=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353144	NM_014974.3(DIP2C):c.825A>C (p.Glu275Asp)	DIP2C, LOC126860807 (E275D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2282774	NM_014974.3(DIP2C):c.821G>A (p.Arg274Gln)	DIP2C, LOC126860807 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1995945	NM_014974.3(DIP2C):c.806A>G (p.Lys269Arg)	DIP2C, LOC126860807 (K269R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023644	NM_014974.3(DIP2C):c.804G>A (p.Pro268=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813886	NM_014974.3(DIP2C):c.803C>T (p.Pro268Leu)	DIP2C, LOC126860807 (P268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723576	NM_014974.3(DIP2C):c.800G>A (p.Arg267Gln)	DIP2C, LOC126860807 (R267Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748825	NM_014974.3(DIP2C):c.798A>G (p.Lys266=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708040	NM_014974.3(DIP2C):c.786dup (p.Asn263fs)	DIP2C, LOC126860807 (N263fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1961888	NM_014974.3(DIP2C):c.780G>A (p.Gln260=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381373	NM_014974.3(DIP2C):c.748G>A (p.Val250Ile)	DIP2C, LOC126860807 (V250I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646207	NM_014974.3(DIP2C):c.740-19G>A	DIP2C, LOC126860807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901867	NM_014974.3(DIP2C):c.740-20C>T	DIP2C, LOC126860807	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 37