"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NPIPA1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646244	NM_006985.4(NPIPA1):c.805T>C (p.Cys269Arg)	NPIPA1 (C269R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2343013	NM_006985.4(NPIPA1):c.814A>T (p.Thr272Ser)	NPIPA1 (T272S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2343014	NM_006985.4(NPIPA1):c.815C>A (p.Thr272Asn)	NPIPA1 (T291N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024597	GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1	NPIPA5, ABCC1 +13 more	Copy number loss	not provided	GPathogenic
Select item 3024596	GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3	PDXDC1, RRN3 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 2647150	GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 2570961	GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 1879351	GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3	ABCC1, ABCC6 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 808171	GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3	MARF1, BMERB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 808170	GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3	NOMO3, NPIPA1 +13 more	Copy number gain	not provided	GUncertain significance