RHEBL1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2227105	NM_144593.3(RHEBL1):c.535C>T (p.Arg179Cys)	RHEBL1 (R179C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249965	NM_144593.3(RHEBL1):c.505C>T (p.Arg169Cys)	RHEBL1 (R167C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511757	NM_144593.3(RHEBL1):c.456G>T (p.Glu152Asp)	RHEBL1 (E152D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553794	NM_144593.3(RHEBL1):c.361G>A (p.Ala121Thr)	RHEBL1 (A119T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599090	NM_144593.3(RHEBL1):c.331C>T (p.Arg111Trp)	RHEBL1 (R111W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609038	NM_144593.3(RHEBL1):c.122A>G (p.Asn41Ser)	RHEBL1 (N41S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530895	NM_144593.3(RHEBL1):c.106G>C (p.Asp36His)	RHEBL1 (D36H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327653	NM_144593.3(RHEBL1):c.44G>T (p.Arg15Leu)	LOC130007819, RHEBL1 (R15L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic