LOC130065670[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 895810	NM_006892.4(DNMT3B):c.-303G>A	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338146	NM_006892.4(DNMT3B):c.-274C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 896091	NM_006892.4(DNMT3B):c.-267C>A	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896092	NM_006892.4(DNMT3B):c.-264C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338147	NM_006892.4(DNMT3B):c.-234G>C	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338148	NM_006892.4(DNMT3B):c.-224C>A	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896093	NM_006892.4(DNMT3B):c.-212C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338149	NM_006892.4(DNMT3B):c.-163A>C	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896094	NM_006892.4(DNMT3B):c.-105C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338150	NM_006892.4(DNMT3B):c.-62C>G	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 897679	NM_006892.4(DNMT3B):c.-21C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance