"GeneDx"[submitter] AND "GP1BB"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 627320	NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)	GP1BB, SEPT5-GP1BB (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 731652	NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)	GP1BB, SEPT5-GP1BB (G40E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678696	NM_000407.5(GP1BB):c.473T>G (p.Leu158Arg)	GP1BB, SEPT5-GP1BB (L158R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1320932	NM_000407.5(GP1BB):c.544G>A (p.Ala182Thr)	GP1BB, SEPT5-GP1BB (A182T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1226396	NM_000407.5(GP1BB):c.*107C>T	GP1BB, SEPT5-GP1BB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 253657	GRCh37/hg19 22q11.21(chr22:18894339-20255154)x1	TRMT2A, TSSK2 +26 more	Copy number loss	See cases	GPathogenic
Select item 253589	GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3	ARVCF, C22orf39 +36 more	Copy number gain	See cases	GPathogenic
Select item 253570	GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3	ARVCF, C22orf39 +36 more	Copy number gain	See cases	GPathogenic
Select item 253550	GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3	AIFM3, ARVCF +46 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253416	GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 253401	GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253390	GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253383	GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1	CLTCL1, COMT +43 more	Copy number loss	See cases	GPathogenic