ITPR2-AS1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 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 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 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	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 148423	GRCh38/hg38 12p12.1-11.23(chr12:26202582-26720731)x3	LOC130007573, LOC130007574 +15 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 758237	NM_005086.5(SSPN):c.513G>A (p.Pro171=)	ITPR2-AS1, SSPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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

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Items: 26