DBF4B[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2237383	NM_145663.3(DBF4B):c.46T>C (p.Ser16Pro)	DBF4B (S16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526758	NM_145663.3(DBF4B):c.49A>G (p.Met17Val)	DBF4B (M17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277688	NM_145663.3(DBF4B):c.95G>A (p.Cys32Tyr)	DBF4B (C32Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3080157	NM_145663.3(DBF4B):c.205G>A (p.Ala69Thr)	DBF4B (A69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321026	NM_145663.3(DBF4B):c.242T>C (p.Leu81Pro)	DBF4B (L81P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472245	NM_145663.3(DBF4B):c.248A>G (p.Lys83Arg)	DBF4B (K83R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592905	NM_145663.3(DBF4B):c.253G>A (p.Val85Ile)	DBF4B (V85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267380	NM_145663.3(DBF4B):c.265G>A (p.Val89Met)	DBF4B (V89M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521222	NM_145663.3(DBF4B):c.393G>T (p.Arg131Ser)	DBF4B (R131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080159	NM_145663.3(DBF4B):c.503G>A (p.Ser168Asn)	DBF4B (S168N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080160	NM_145663.3(DBF4B):c.560T>C (p.Met187Thr)	DBF4B (M187T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333301	NM_145663.3(DBF4B):c.571G>A (p.Val191Met)	DBF4B (V191M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3080161	NM_145663.3(DBF4B):c.590C>T (p.Ala197Val)	DBF4B (A197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251922	NM_145663.3(DBF4B):c.641C>T (p.Pro214Leu)	DBF4B (P214L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080162	NM_145663.3(DBF4B):c.803C>T (p.Thr268Met)	DBF4B (T268M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603074	NM_145663.3(DBF4B):c.962G>A (p.Arg321Gln)	DBF4B (R321Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342002	NM_145663.3(DBF4B):c.966C>G (p.Ser322Arg)	DBF4B (S322R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365332	NM_145663.3(DBF4B):c.1073G>A (p.Gly358Asp)	DBF4B (G358D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387976	NM_145663.3(DBF4B):c.1081G>A (p.Ala361Thr)	DBF4B (A361T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234772	NM_145663.3(DBF4B):c.1237G>C (p.Asp413His)	DBF4B (D413H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250025	NM_145663.3(DBF4B):c.1294C>T (p.Pro432Ser)	DBF4B (P432S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080156	NM_145663.3(DBF4B):c.1313C>T (p.Ser438Phe)	DBF4B (S438F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407417	NM_145663.3(DBF4B):c.1633T>C (p.Tyr545His)	DBF4B (Y545H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2348425	NM_145663.3(DBF4B):c.1642C>T (p.Leu548Phe)	DBF4B (L548F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225249	NM_145663.3(DBF4B):c.1742A>G (p.Tyr581Cys)	DBF4B (Y581C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468355	NM_145663.3(DBF4B):c.1759C>G (p.Leu587Val)	DBF4B (L587V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258405	NM_145663.3(DBF4B):c.1835T>G (p.Val612Gly)	DBF4B (V612G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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

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Items: 36