NT5C3B[gene] - ClinVar - NCBI

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Items: 19

	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 3301221	NM_052935.5(NT5C3B):c.565G>A (p.Asp189Asn)	NT5C3B (D189N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375604	NM_052935.5(NT5C3B):c.466T>C (p.Ser156Pro)	NT5C3B (S156P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407951	NM_052935.5(NT5C3B):c.458T>C (p.Phe153Ser)	NT5C3B (F153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386862	NM_052935.5(NT5C3B):c.392A>G (p.Asn131Ser)	NT5C3B (N131S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3202500	NM_052935.5(NT5C3B):c.305T>C (p.Met102Thr)	NT5C3B (M102T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228113	NM_052935.5(NT5C3B):c.260T>C (p.Ile87Thr)	NT5C3B (I87T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202499	NM_052935.5(NT5C3B):c.248A>G (p.His83Arg)	NT5C3B (H83R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202498	NM_052935.5(NT5C3B):c.217T>C (p.Cys73Arg)	NT5C3B (C73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340145	NM_052935.5(NT5C3B):c.196A>T (p.Ser66Cys)	NT5C3B (S66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301219	NM_052935.5(NT5C3B):c.178T>G (p.Tyr60Asp)	NT5C3B (Y60D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202497	NM_052935.5(NT5C3B):c.112G>A (p.Val38Met)	NT5C3B (V38M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202501	NM_052935.5(NT5C3B):c.82C>G (p.Leu28Val)	KLHL10, NT5C3B (L28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
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