ClinVar for Gene (Select 5164) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305542	NM_002611.5(PDK2):c.1195A>G (p.Lys399Glu)	PDK2, SAMD14 (K399E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 3210965	NM_002611.5(PDK2):c.418A>G (p.Thr140Ala)	PDK2 (T140A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210964	NM_002611.5(PDK2):c.245A>T (p.Gln82Leu)	PDK2 (Q82L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210962	NM_002611.5(PDK2):c.1213C>T (p.Arg405Cys)	PDK2, SAMD14 (R341C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063531	GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3	COL1A1, PDK2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692405	Single allele	SAMD14, COL1A1 +4 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 2611390	NM_002611.5(PDK2):c.175G>A (p.Val59Met)	PDK2 (V59M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2476205	NM_002611.5(PDK2):c.866G>A (p.Ser289Asn)	PDK2 (S289N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422330	NC_000017.10:g.(?_48068881)_(48278874_?)del	COL1A1, DLX3 +5 more	Deletion	not provided	GUncertain significance
Select item 2406323	NM_002611.5(PDK2):c.856A>G (p.Ile286Val)	LOC126862585, PDK2 (I222V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349924	NM_002611.5(PDK2):c.427G>A (p.Asp143Asn)	PDK2 (D143N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346460	NM_002611.5(PDK2):c.872G>A (p.Arg291Gln)	PDK2 (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335014	NM_002611.5(PDK2):c.484C>T (p.Arg162Cys)	PDK2 (R162C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261856	NM_002611.5(PDK2):c.721G>A (p.Val241Ile)	LOC126862585, PDK2 (V177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239547	NM_002611.5(PDK2):c.953C>T (p.Thr318Ile)	PDK2 (T254I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791201	NM_002611.5(PDK2):c.126C>T (p.Ser42=)	PDK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 777201	NM_002611.5(PDK2):c.220C>A (p.Arg74=)	PDK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727142	NM_002611.5(PDK2):c.763-5C>T	LOC126862585, PDK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
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 425666	Single allele	PDK2, SGCA +4 more	Deletion	Osteogenesis imperfecta type I	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 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
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 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	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

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Links from Gene

Items: 31