1034[HGNC] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2491783	NM_001313998.2(BECN1):c.1061C>G (p.Ser354Cys)	BECN1 (S354C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133659	NM_001313998.2(BECN1):c.1050G>A (p.Pro350=)	BECN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3133657	NM_001313998.2(BECN1):c.1033A>G (p.Lys345Glu)	BECN1 (K269E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394711	NM_001313998.2(BECN1):c.986G>A (p.Arg329Gln)	BECN1 (R329Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783784	NM_001313998.2(BECN1):c.980+9T>C	BECN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2398887	NM_001313998.2(BECN1):c.853A>G (p.Ile285Val)	BECN1 (I209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133662	NM_001313998.2(BECN1):c.817A>G (p.Thr273Ala)	BECN1 (T197A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341507	NM_001313998.2(BECN1):c.776C>T (p.Thr259Met)	BECN1 (T183M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301444	NM_001313998.2(BECN1):c.721C>G (p.Leu241Val)	BECN1 (L241V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554374	NM_001313998.2(BECN1):c.720G>C (p.Gln240His)	BECN1 (Q164H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369401	NM_001313998.2(BECN1):c.601G>A (p.Val201Met)	BECN1, LOC126862569 (V125M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477104	NM_001313998.2(BECN1):c.509A>T (p.Glu170Val)	BECN1, LOC126862569 (E170V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291461	NM_001313998.2(BECN1):c.278G>A (p.Ser93Asn)	BECN1, LOC126862569 (S93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133660	NM_001313998.2(BECN1):c.239G>T (p.Arg80Leu)	BECN1 (R80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325507	NM_001313998.2(BECN1):c.238C>T (p.Arg80Cys)	BECN1 (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551516	NM_001313998.2(BECN1):c.209T>C (p.Ile70Thr)	BECN1 (I70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260770	NM_001313998.2(BECN1):c.115A>C (p.Ile39Leu)	BECN1 (I39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133661	NM_001313998.2(BECN1):c.68A>T (p.Gln23Leu)	BECN1 (Q23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247531	NM_001313998.2(BECN1):c.35T>C (p.Met12Thr)	BECN1 (M12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	AARSD1, AATF +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	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

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Items: 25