ClinVar for Gene (Select 221476) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306351	NM_153370.3(PI16):c.1303T>C (p.Ser435Pro)	PI16 (S435P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306350	NM_153370.3(PI16):c.1222G>A (p.Ala408Thr)	PI16 (A408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306349	NM_153370.3(PI16):c.244C>T (p.Arg82Cys)	PI16 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306347	NM_153370.3(PI16):c.1229C>A (p.Ala410Asp)	PI16 (A410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306346	NM_153370.3(PI16):c.181G>A (p.Glu61Lys)	PI16 (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306345	NM_153370.3(PI16):c.1085A>C (p.Glu362Ala)	PI16 (E362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306344	NM_153370.3(PI16):c.187C>G (p.Leu63Val)	PI16 (L63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 3212517	NM_153370.3(PI16):c.7G>A (p.Gly3Ser)	PI16 (G3S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212516	NM_153370.3(PI16):c.580A>G (p.Asn194Asp)	PI16 (N194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212515	NM_153370.3(PI16):c.542C>T (p.Thr181Ile)	PI16 (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212513	NM_153370.3(PI16):c.232C>G (p.His78Asp)	PI16 (H78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212512	NM_153370.3(PI16):c.161T>C (p.Met54Thr)	PI16 (M54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212511	NM_153370.3(PI16):c.1364C>T (p.Pro455Leu)	PI16 (P455L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212510	NM_153370.3(PI16):c.1172G>A (p.Gly391Glu)	PI16 (G391E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212509	NM_153370.3(PI16):c.1066G>A (p.Glu356Lys)	PI16 (E356K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212508	NM_153370.3(PI16):c.1013A>G (p.Asp338Gly)	PI16 (D338G)	Single nucleotide variant (missense variant)	not specified	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 2615698	NM_153370.3(PI16):c.1007C>A (p.Ser336Tyr)	PI16 (S336Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609200	NM_153370.3(PI16):c.465G>C (p.Glu155Asp)	PI16 (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594039	NM_153370.3(PI16):c.982G>A (p.Val328Met)	PI16 (V328M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551276	NM_153370.3(PI16):c.448C>G (p.Leu150Val)	PI16 (L150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546385	NM_153370.3(PI16):c.1342C>T (p.Leu448Phe)	PI16 (L448F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507526	NM_153370.3(PI16):c.703T>A (p.Ser235Thr)	PI16 (S235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2400284	NM_153370.3(PI16):c.704C>G (p.Ser235Cys)	PI16 (S235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398983	NM_153370.3(PI16):c.911C>T (p.Pro304Leu)	PI16 (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374110	NM_153370.3(PI16):c.863T>A (p.Val288Asp)	PI16 (V288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374047	NM_153370.3(PI16):c.146C>T (p.Pro49Leu)	PI16 (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367290	NM_153370.3(PI16):c.784A>G (p.Thr262Ala)	PI16 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333457	NM_153370.3(PI16):c.382C>T (p.His128Tyr)	PI16 (H128Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315839	NM_153370.3(PI16):c.430T>A (p.Ser144Thr)	PI16 (S144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306301	NM_153370.3(PI16):c.854C>G (p.Thr285Arg)	PI16 (T285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262033	NM_153370.3(PI16):c.884A>C (p.His295Pro)	PI16 (H295P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209952	NM_153370.3(PI16):c.73G>A (p.Val25Ile)	PI16 (V25I)	Single nucleotide variant (missense variant)	not specified	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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 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 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150550	GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3	C6orf89, FGD2 +14 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 45