ClinVar for Gene (Select 284677) - ClinVar

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

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166987	NR_147125.1(SNHG28):n.394G>A	SNHG28	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3166986	NR_147122.1(SNHG28):n.303G>C	SNHG28	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2565549	NM_001013661.1(VSIG8):c.1078T>A (p.Tyr360Asn)	LOC129931679, SNHG28 +1 more (Y360N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537284	NM_001013661.1(VSIG8):c.1160C>T (p.Ser387Phe)	LOC129931679, SNHG28 +1 more (S387F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465505	NM_001013661.1(VSIG8):c.1042C>T (p.Pro348Ser)	LOC129931679, SNHG28 +1 more (P348S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355087	NM_001013661.1(VSIG8):c.1073G>T (p.Arg358Leu)	LOC129931679, SNHG28 +1 more (R358L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346107	NM_001013661.1(VSIG8):c.1091C>G (p.Pro364Arg)	LOC129931679, SNHG28 +1 more (P364R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2274675	NM_001013661.1(VSIG8):c.1138G>A (p.Ala380Thr)	LOC129931679, SNHG28 +1 more (A380T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395426	GRCh37/hg19 1q23.2(chr1:159824090-159857739)x1	CFAP45, SNHG28 +1 more	Copy number loss	See cases	GLikely benign
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	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

Links from Gene

Items: 20