IMPA1[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679268	NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)	IMPA1 (R273* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 59	GLikely pathogenic
Select item 2287176	NM_005536.4(IMPA1):c.808C>T (p.Pro270Ser)	IMPA1 (P270S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277588	NM_005536.4(IMPA1):c.787G>A (p.Ala263Thr)	IMPA1 (A263T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558200	NM_005536.4(IMPA1):c.784A>G (p.Ile262Val)	IMPA1 (I321V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029977	NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp)	IMPA1 (G240D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 59	GUncertain significance
Select item 2220057	NM_005536.4(IMPA1):c.685A>T (p.Thr229Ser)	IMPA1 (T229S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556168	NM_005536.4(IMPA1):c.619G>A (p.Gly207Arg)	IMPA1 (G266R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031547	NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala)	IMPA1 (T264A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2237771	NM_005536.4(IMPA1):c.536T>C (p.Met179Thr)	IMPA1 (M179T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294669	NM_005536.4(IMPA1):c.497C>T (p.Ser166Phe)	IMPA1 (S225F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375412	NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs)	IMPA1 (S165fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 59	GPathogenic
Select item 2220527	NM_005536.4(IMPA1):c.460A>G (p.Ile154Val)	IMPA1 (I154V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031546	NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln)	IMPA1 (E127Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 59	GUncertain significance
Select item 2511352	NM_005536.4(IMPA1):c.377T>C (p.Val126Ala)	IMPA1 (V185A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716533	NM_005536.4(IMPA1):c.303-9T>A	IMPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764254	NM_005536.4(IMPA1):c.246C>A (p.Thr82=)	IMPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3109556	NM_005536.4(IMPA1):c.137C>T (p.Thr46Met)	IMPA1 (T105M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713363	NM_005536.4(IMPA1):c.115C>T (p.Pro39Ser)	IMPA1 (P39S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3109555	NM_005536.4(IMPA1):c.110G>A (p.Ser37Asn)	IMPA1 (S96N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109554	NM_005536.4(IMPA1):c.95A>G (p.Asn32Ser)	IMPA1 (N91S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109553	NM_005536.4(IMPA1):c.59G>A (p.Gly20Glu)	IMPA1 (G79E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780760	NM_005536.4(IMPA1):c.-25+424A>G	IMPA1 (K30E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3109557	NM_005536.4(IMPA1):c.-25+389T>C	IMPA1 (V18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255335	NM_005536.4(IMPA1):c.-25+349C>A	IMPA1 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231215	NM_005536.4(IMPA1):c.-25+345G>C	IMPA1 (Q3H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 688202	GRCh37/hg19 8q21.13(chr8:82571433-82604029)x1	IMPA1	Copy number loss	not provided	GPathogenic

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Items: 26