NPIPA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57620	GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3	ABCC1, ABCC6 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57622	GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3	ABCC1, BFAR +45 more	Copy number gain	See cases	GUncertain significance
Select item 3235906	GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)	ABCC1, ABCC6 +57 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3235935	GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)	ABCC1, ABCC6 +58 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 152077	GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3	ABCC1, ABCC6 +57 more	Copy number gain	See cases	GUncertain significance
Select item 145996	GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1	ABCC1, ABCC6 +56 more	Copy number loss	See cases	GPathogenic
Select item 57625	GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 57624	GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 545185	NC_000016.10:g.(?_14757009)_(16763184_?)del	ABCC1, ABCC6 +55 more	Deletion	Autism	GPathogenic
Select item 153315	GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153386	GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1	ABCC1, ABCC6 +45 more	Copy number loss	See cases	GPathogenic
Select item 545186	NC_000016.10:g.(?_14780667)_(16415941_?)del	ABCC1, ABCC6 +54 more	Deletion	Schizophrenia	GPathogenic
Select item 155253	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	ABCC1, ABCC6 +95 more	Copy number gain	See cases	GUncertain significance
Select item 152703	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152128	GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149520	GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1	ABCC1, ABCC6 +43 more	Copy number loss	See cases	GPathogenic
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	MIR3670-1, MIR3670-2 +96 more	Copy number gain	See cases	GUncertain significance
Select item 149045	GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 148735	GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3	ABCC1, ABCC6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 148559	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148355	GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148334	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3	MIR1972-1, MIR3179-1 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155541	GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153650	GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153612	GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152188	GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153310	GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 154289	GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 155029	GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154161	GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153547	GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154272	GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152383	GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153841	GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3	NOMO1, NOMO3 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148975	GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	ABCC1, ABCC6 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 160930	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 160807	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 160804	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154498	GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 146212	GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 57655	GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 57537	GRCh38/hg38 16p13.11(chr16:14816348-15055158)x1	LOC100288162, LOC112340377 +11 more	Copy number loss	See cases	GUncertain significance
Select item 57294	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1	ABCC1, ABCC6 +96 more	Copy number loss	See cases	GPathogenic
Select item 57168	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 32961	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 32821	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 32353	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 32196	GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154784	GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154755	GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 150761	GRCh38/hg38 16p13.11(chr16:14816356-15140605)x1	LOC100288162, LOC100505915 +16 more	Copy number loss	See cases	GLikely benign
Select item 58704	GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 57657	GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3	ABCC1, ABCC6 +45 more	Copy number gain	See cases	GUncertain significance
Select item 150622	GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 57658	GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 160961	GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3	ABCC1, BMERB1 +40 more	Copy number gain	See cases	GUncertain significance
Select item 154376	GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1	PDXDC1, RRN3 +40 more	Copy number loss	See cases	GPathogenic
Select item 34458	GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 57660	GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57659	GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3	ABCC1, ABCC6 +41 more	Copy number gain	See cases	GUncertain significance
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 provided +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

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