ClinVar for Gene (Select 101928554) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170426	NM_005086.5(SSPN):c.545C>T (p.Thr182Met)	ITPR2-AS1, SSPN (T79M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170425	NM_005086.5(SSPN):c.478G>A (p.Asp160Asn)	ITPR2-AS1, SSPN (D160N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170424	NM_005086.5(SSPN):c.391C>G (p.Leu131Val)	ITPR2-AS1, SSPN (L131V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591925	NM_005086.5(SSPN):c.339A>C (p.Glu113Asp)	ITPR2-AS1, SSPN (E113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530905	NM_005086.5(SSPN):c.403G>T (p.Val135Phe)	ITPR2-AS1, SSPN (V32F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515380	NM_005086.5(SSPN):c.475C>G (p.Leu159Val)	ITPR2-AS1, SSPN (L159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369641	NM_005086.5(SSPN):c.686G>A (p.Arg229Lys)	ITPR2-AS1, SSPN (R126K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366493	NM_005086.5(SSPN):c.709G>A (p.Glu237Lys)	ITPR2-AS1, SSPN (E237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345506	NM_005086.5(SSPN):c.701C>T (p.Thr234Met)	ITPR2-AS1, SSPN (T234M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317754	NM_005086.5(SSPN):c.341G>A (p.Arg114Gln)	ITPR2-AS1, SSPN (R114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306080	NM_005086.5(SSPN):c.541G>A (p.Val181Met)	ITPR2-AS1, SSPN (V78M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238622	NM_005086.5(SSPN):c.616G>A (p.Gly206Ser)	ITPR2-AS1, SSPN (G206S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214768	NM_005086.5(SSPN):c.443C>T (p.Ser148Leu)	ITPR2-AS1, SSPN (S148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782779	NM_005086.5(SSPN):c.534C>T (p.Tyr178=)	ITPR2-AS1, SSPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758237	NM_005086.5(SSPN):c.513G>A (p.Pro171=)	ITPR2-AS1, SSPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711572	NM_005086.5(SSPN):c.401C>T (p.Thr134Met)	ITPR2-AS1, SSPN (T31M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148423	GRCh38/hg38 12p12.1-11.23(chr12:26202582-26720731)x3	LOC130007573, LOC130007574 +15 more	Copy number gain	See cases	GUncertain significance
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 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: 26