57597[Gene ID] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 2360416	NM_001377448.1(BAHCC1):c.47G>A (p.Arg16His)	BAHCC1 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252726	NM_001377448.1(BAHCC1):c.79G>T (p.Ala27Ser)	BAHCC1 (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2648447	NM_001377448.1(BAHCC1):c.409G>A (p.Val137Met)	BAHCC1 (V137M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648448	NM_001377448.1(BAHCC1):c.657C>T (p.Leu219=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648449	NM_001377448.1(BAHCC1):c.1596G>A (p.Pro532=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648450	NM_001377448.1(BAHCC1):c.2309G>T (p.Arg770Leu)	BAHCC1 (R770L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648451	NM_001377448.1(BAHCC1):c.3103G>A (p.Ala1035Thr)	BAHCC1 (A1035T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025095	NM_001377448.1(BAHCC1):c.3359T>C (p.Leu1120Pro)	BAHCC1 (L1120P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025091	NM_001377448.1(BAHCC1):c.5370G>A (p.Thr1790=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648452	NM_001377448.1(BAHCC1):c.5439C>T (p.Ala1813=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648453	NM_001377448.1(BAHCC1):c.5625C>T (p.His1875=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648454	NM_001377448.1(BAHCC1):c.5652C>T (p.Pro1884=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648455	NM_001377448.1(BAHCC1):c.6915C>T (p.Gly2305=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648456	NM_001377448.1(BAHCC1):c.7197C>T (p.Gly2399=)	BAHCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
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 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 395695	GRCh37/hg19 17q25.3(chr17:79371605-79482530)x1	ACTG1, BAHCC1	Copy number loss	See cases	GBenign
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 34