VSIG8[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 3332356	NM_001013661.1(VSIG8):c.1100G>A (p.Gly367Asp)	LOC129931679, SNHG28 +1 more (G367D)	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 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 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 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 2364943	NM_001013661.1(VSIG8):c.916G>A (p.Gly306Ser)	VSIG8 (G306S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604805	NM_001013661.1(VSIG8):c.886G>A (p.Ala296Thr)	VSIG8 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216226	NM_001013661.1(VSIG8):c.841G>A (p.Val281Ile)	VSIG8 (V281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552852	NM_001013661.1(VSIG8):c.805G>A (p.Val269Ile)	VSIG8 (V269I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228983	NM_001013661.1(VSIG8):c.791T>A (p.Val264Glu)	VSIG8 (V264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457570	NM_001013661.1(VSIG8):c.782G>A (p.Arg261His)	VSIG8 (R261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308940	NM_001013661.1(VSIG8):c.668A>T (p.Asp223Val)	VSIG8 (D223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189135	NM_001013661.1(VSIG8):c.572G>A (p.Arg191Gln)	VSIG8 (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332355	NM_001013661.1(VSIG8):c.556C>T (p.His186Tyr)	VSIG8 (H186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277181	NM_001013661.1(VSIG8):c.505G>A (p.Ala169Thr)	VSIG8 (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243248	NM_001013661.1(VSIG8):c.484G>A (p.Asp162Asn)	VSIG8 (D162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529954	NM_001013661.1(VSIG8):c.275A>G (p.His92Arg)	VSIG8 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475255	NM_001013661.1(VSIG8):c.163C>T (p.Pro55Ser)	VSIG8 (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311013	NM_001013661.1(VSIG8):c.100C>G (p.Leu34Val)	VSIG8 (L34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593099	NM_001013661.1(VSIG8):c.76G>A (p.Gly26Arg)	VSIG8 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565066	NM_001013661.1(VSIG8):c.68G>A (p.Arg23Gln)	VSIG8 (R23Q)	Single nucleotide variant (missense 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 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	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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

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Items: 35