NPIPA1[gene] and "single gene"[properties] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2350918	NM_006985.4(NPIPA1):c.218C>T (p.Pro73Leu)	NPIPA1 (P73L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2348479	NM_006985.4(NPIPA1):c.278G>A (p.Arg93His)	NPIPA1 (R93H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201683	NM_006985.4(NPIPA1):c.281G>A (p.Arg94His)	NPIPA1 (R94H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2380044	NM_006985.4(NPIPA1):c.302T>C (p.Ile101Thr)	NPIPA1 (I101T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2244296	NM_006985.4(NPIPA1):c.327A>C (p.Leu109Phe)	NPIPA1 (L109F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201684	NM_006985.4(NPIPA1):c.394C>T (p.Arg132Cys)	NPIPA1 (R132C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2540257	NM_006985.4(NPIPA1):c.400G>A (p.Asp134Asn)	NPIPA1 (D134N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300812	NM_006985.4(NPIPA1):c.659T>C (p.Val220Ala)	NPIPA1 (V220A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2342652	NM_006985.4(NPIPA1):c.668G>A (p.Arg223His)	NPIPA1 (R223H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2395948	NM_006985.4(NPIPA1):c.680G>C (p.Gly227Ala)	NPIPA1 (G227A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2612710	NM_006985.4(NPIPA1):c.719A>T (p.Lys240Ile)	NPIPA1 (K240I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300811	NM_006985.4(NPIPA1):c.770T>C (p.Ile257Thr)	NPIPA1 (I257T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2354458	NM_006985.4(NPIPA1):c.796C>A (p.Pro266Thr)	NPIPA1 (P266T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2341895	NM_006985.4(NPIPA1):c.802G>A (p.Glu268Lys)	NPIPA1 (E268K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2646244	NM_006985.4(NPIPA1):c.805T>C (p.Cys269Arg)	NPIPA1 (C269R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2205560	NM_006985.4(NPIPA1):c.808C>G (p.Leu270Val)	NPIPA1 (L270V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603861	NM_006985.4(NPIPA1):c.809T>A (p.Leu270Gln)	NPIPA1 (L270Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2343013	NM_006985.4(NPIPA1):c.814A>T (p.Thr272Ser)	NPIPA1 (T272S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2343014	NM_006985.4(NPIPA1):c.815C>A (p.Thr272Asn)	NPIPA1 (T272N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2208938	NM_006985.4(NPIPA1):c.820C>G (p.Leu274Val)	NPIPA1 (L274V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2377855	NM_006985.4(NPIPA1):c.826C>T (p.Pro276Ser)	NPIPA1 (P276S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2530880	NM_006985.4(NPIPA1):c.839C>T (p.Pro280Leu)	NPIPA1 (P280L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2363717	NM_006985.4(NPIPA1):c.849T>G (p.Asp283Glu)	NPIPA1 (D283E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2378183	NM_006985.4(NPIPA1):c.869C>T (p.Ala290Val)	NPIPA1 (A290V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201685	NM_006985.4(NPIPA1):c.870G>A (p.Ala290=)	NPIPA1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3201686	NM_006985.4(NPIPA1):c.883T>A (p.Tyr295Asn)	NPIPA1 (Y295N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201687	NM_006985.4(NPIPA1):c.884A>C (p.Tyr295Ser)	NPIPA1 (Y295S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201688	NM_006985.4(NPIPA1):c.925C>G (p.Pro309Ala)	NPIPA1 (P309A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201689	NM_006985.4(NPIPA1):c.971T>A (p.Val324Glu)	NPIPA1 (V324E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201690	NM_006985.4(NPIPA1):c.985A>G (p.Lys329Glu)	NPIPA1 (K329E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300813	NM_006985.4(NPIPA1):c.1001G>T (p.Cys334Phe)	NPIPA1 (C334F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 31