ClinVar for Gene (Select 51547) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2609563	NM_016538.3(SIRT7):c.317C>G (p.Thr106Arg)	SIRT7 (T106R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606832	NM_016538.3(SIRT7):c.449T>C (p.Met150Thr)	SIRT7 (M150T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546798	NM_016538.3(SIRT7):c.758C>T (p.Ala253Val)	SIRT7 (A253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513134	NM_016538.3(SIRT7):c.538C>T (p.Arg180Cys)	SIRT7 (R180C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +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	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2362022	NM_016538.3(SIRT7):c.860C>G (p.Pro287Arg)	SIRT7 (P287R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314525	NM_016538.3(SIRT7):c.47G>T (p.Arg16Leu)	SIRT7 (R16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305224	NM_016538.3(SIRT7):c.717T>G (p.Phe239Leu)	SIRT7 (F239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262812	NM_016538.3(SIRT7):c.1040T>C (p.Leu347Pro)	SIRT7 (L347P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245578	NM_016538.3(SIRT7):c.1115G>A (p.Arg372Gln)	SIRT7 (R372Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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	LOC130062002, LOC130062003 +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	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +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: 33