RHBDL2[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 3154005	NM_017821.5(RHBDL2):c.893T>C (p.Phe298Ser)	RHBDL2 (F378S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492764	NM_017821.5(RHBDL2):c.854A>C (p.Tyr285Ser)	RHBDL2 (Y285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154004	NM_017821.5(RHBDL2):c.751A>G (p.Ile251Val)	RHBDL2 (I251V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154003	NM_017821.5(RHBDL2):c.716C>T (p.Pro239Leu)	RHBDL2 (P239L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314186	NM_017821.5(RHBDL2):c.586G>C (p.Gly196Arg)	RHBDL2 (G276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617305	NM_017821.5(RHBDL2):c.542G>C (p.Arg181Thr)	RHBDL2 (R261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314184	NM_017821.5(RHBDL2):c.473G>A (p.Arg158His)	RHBDL2 (R238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236810	NM_017821.5(RHBDL2):c.472C>T (p.Arg158Cys)	RHBDL2 (R158C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280850	NM_017821.5(RHBDL2):c.434T>C (p.Val145Ala)	RHBDL2 (V145A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154002	NM_017821.5(RHBDL2):c.332T>G (p.Ile111Ser)	RHBDL2 (I191S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510619	NM_017821.5(RHBDL2):c.325C>T (p.Pro109Ser)	RHBDL2 (P109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283603	NM_017821.5(RHBDL2):c.310G>A (p.Gly104Ser)	RHBDL2 (G104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384276	NM_017821.5(RHBDL2):c.301T>A (p.Leu101Met)	RHBDL2 (L101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154001	NM_017821.5(RHBDL2):c.250G>A (p.Ala84Thr)	RHBDL2 (A164T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154000	NM_017821.5(RHBDL2):c.166G>A (p.Glu56Lys)	RHBDL2 (E56K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272375	NM_017821.5(RHBDL2):c.83A>C (p.Glu28Ala)	RHBDL2 (E28A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326899	NM_017821.5(RHBDL2):c.69G>T (p.Glu23Asp)	RHBDL2 (E103D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219518	NM_017821.5(RHBDL2):c.25A>T (p.Met9Leu)	RHBDL2 (M89L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592576	NM_017821.5(RHBDL2):c.14A>G (p.His5Arg)	RHBDL2 (H5R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314185	NM_017821.5(RHBDL2):c.11T>C (p.Val4Ala)	RHBDL2 (V84A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565086	GRCh37/hg19 1p34.3(chr1:39094582-39794108)x3	AKIRIN1, RHBDL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 32