ClinVar for Gene (Select 121268) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314205	NM_144593.3(RHEBL1):c.95C>T (p.Ser32Leu)	RHEBL1 (S30L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3244280	NC_000012.11:g.(?_49298120)_(49488295_?)dup	ARF3, CCDC65 +8 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 3154044	NM_144593.3(RHEBL1):c.452G>A (p.Arg151Gln)	RHEBL1 (R149Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154043	NM_144593.3(RHEBL1):c.19A>G (p.Arg7Gly)	LOC130007819, RHEBL1 (R7G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2327653	NM_144593.3(RHEBL1):c.44G>T (p.Arg15Leu)	LOC130007819, RHEBL1 (R15L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2227105	NM_144593.3(RHEBL1):c.535C>T (p.Arg179Cys)	RHEBL1 (R179C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +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
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 23