PI16[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 155452	GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1	C6orf89, CPNE5 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 150550	GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3	C6orf89, FGD2 +14 more	Copy number gain	See cases	GLikely benign
Select item 2209952	NM_153370.3(PI16):c.73G>A (p.Val25Ile)	PI16 (V25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374047	NM_153370.3(PI16):c.146C>T (p.Pro49Leu)	PI16 (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333457	NM_153370.3(PI16):c.382C>T (p.His128Tyr)	PI16 (H128Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315839	NM_153370.3(PI16):c.430T>A (p.Ser144Thr)	PI16 (S144T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551276	NM_153370.3(PI16):c.448C>G (p.Leu150Val)	PI16 (L150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609200	NM_153370.3(PI16):c.465G>C (p.Glu155Asp)	PI16 (E155D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507526	NM_153370.3(PI16):c.703T>A (p.Ser235Thr)	PI16 (S235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400284	NM_153370.3(PI16):c.704C>G (p.Ser235Cys)	PI16 (S235C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367290	NM_153370.3(PI16):c.784A>G (p.Thr262Ala)	PI16 (T262A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306301	NM_153370.3(PI16):c.854C>G (p.Thr285Arg)	PI16 (T285R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374110	NM_153370.3(PI16):c.863T>A (p.Val288Asp)	PI16 (V288D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262033	NM_153370.3(PI16):c.884A>C (p.His295Pro)	PI16 (H295P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398983	NM_153370.3(PI16):c.911C>T (p.Pro304Leu)	PI16 (P304L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594039	NM_153370.3(PI16):c.982G>A (p.Val328Met)	PI16 (V328M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2615698	NM_153370.3(PI16):c.1007C>A (p.Ser336Tyr)	PI16 (S336Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546385	NM_153370.3(PI16):c.1342C>T (p.Leu448Phe)	PI16 (L448F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 687456	GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3	C6orf89, CPNE5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685420	GRCh37/hg19 6p21.2(chr6:36880290-36959480)x3	C6orf89, MTCH1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 28