ClinVar for Gene (Select 256933) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300735	NM_148896.5(NPB):c.137G>A (p.Gly46Asp)	LOC130061982, NPB +1 more (G46D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300734	NM_148896.5(NPB):c.91G>A (p.Gly31Arg)	LOC130061982, NPB +1 more (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3201555	NM_148896.5(NPB):c.247C>G (p.Leu83Val)	LOC130061982, NPB +1 more (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201554	NM_148896.5(NPB):c.122C>G (p.Ala41Gly)	LOC130061982, NPB +1 more (A41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2615890	NM_148896.5(NPB):c.35T>C (p.Leu12Pro)	NPB, PCYT2 (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455961	NM_148896.5(NPB):c.306C>A (p.Asp102Glu)	LOC130061982, NPB +1 more (D102E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2406205	NM_148896.5(NPB):c.149C>T (p.Ser50Phe)	LOC130061982, NPB +1 more (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348286	NM_148896.5(NPB):c.370G>A (p.Ala124Thr)	NPB, PCYT2 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343879	NM_148896.5(NPB):c.238C>A (p.Leu80Met)	LOC130061982, NPB +1 more (L80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317275	NM_148896.5(NPB):c.58C>T (p.Pro20Ser)	PCYT2, NPB (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308763	NM_148896.5(NPB):c.134C>G (p.Ser45Cys)	LOC130061982, NPB +1 more (S45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249192	NM_148896.5(NPB):c.143G>A (p.Arg48His)	LOC130061982, NPB +1 more (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37