ClinVar for Gene (Select 245911) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081297	NM_001002035.2(DEFB108B):c.203C>G (p.Thr68Ser)	DEFB108B, XNDC1N-ZNF705EP-ALG1L9P (T68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081296	NM_001002035.2(DEFB108B):c.188C>A (p.Pro63Gln)	DEFB108B, XNDC1N-ZNF705EP-ALG1L9P (P63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2468898	NM_001002035.2(DEFB108B):c.92C>G (p.Pro31Arg)	DEFB108B, XNDC1N-ZNF705EP-ALG1L9P (P31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2395232	NM_001002035.2(DEFB108B):c.88C>T (p.Arg30Cys)	DEFB108B, XNDC1N-ZNF705EP-ALG1L9P (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339473	NM_001002035.2(DEFB108B):c.116G>A (p.Cys39Tyr)	DEFB108B, XNDC1N-ZNF705EP-ALG1L9P (C39Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808062	GRCh37/hg19 11q13.4(chr11:71051703-71655505)x3	DEFB108B, DHCR7 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 830767	NC_000011.9:g.(?_71146401)_(71907241_?)dup	ANAPC15, DEFB108B +16 more	Duplication	Cerebral folate transport deficiency	GUncertain significance
Select item 768459	NM_001002035.2(DEFB108B):c.158A>G (p.Gln53Arg)	XNDC1N-ZNF705EP-ALG1L9P, DEFB108B (Q53R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance