RHBDL3[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2569506	NM_138328.3(RHBDL3):c.92T>C (p.Leu31Pro)	RHBDL3 (L31P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350550	NM_138328.3(RHBDL3):c.107A>C (p.Glu36Ala)	RHBDL3 (E36A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2591699	NM_138328.3(RHBDL3):c.256G>A (p.Ala86Thr)	RHBDL3 (A78T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350103	NM_138328.3(RHBDL3):c.298A>G (p.Ser100Gly)	RHBDL3 (S100G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238026	NM_138328.3(RHBDL3):c.308G>A (p.Arg103His)	RHBDL3 (R42H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556890	NM_138328.3(RHBDL3):c.322C>G (p.Arg108Gly)	RHBDL3 (R108G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316878	NM_138328.3(RHBDL3):c.347G>A (p.Arg116His)	RHBDL3 (R116H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154008	NM_138328.3(RHBDL3):c.349A>T (p.Arg117Trp)	RHBDL3 (R117W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314187	NM_138328.3(RHBDL3):c.473C>A (p.Thr158Asn)	RHBDL3 (T150N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314190	NM_138328.3(RHBDL3):c.554G>A (p.Gly185Asp)	RHBDL3 (G177D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154009	NM_138328.3(RHBDL3):c.830C>T (p.Ser277Phe)	RHBDL3 (S216F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154010	NM_138328.3(RHBDL3):c.853G>A (p.Val285Ile)	RHBDL3 (V187I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485573	NM_138328.3(RHBDL3):c.860C>T (p.Ala287Val)	RHBDL3 (A226V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326979	NM_138328.3(RHBDL3):c.869C>A (p.Ala290Asp)	RHBDL3 (A290D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154011	NM_138328.3(RHBDL3):c.886T>C (p.Trp296Arg)	RHBDL3 (W198R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154012	NM_138328.3(RHBDL3):c.912G>T (p.Lys304Asn)	RHBDL3 (K296N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234482	NM_138328.3(RHBDL3):c.962G>A (p.Arg321Gln)	RHBDL3 (R260Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314189	NM_138328.3(RHBDL3):c.976C>T (p.Arg326Cys)	RHBDL3 (P292L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314188	NM_138328.3(RHBDL3):c.977G>A (p.Arg326His)	RHBDL3 (R228H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154013	NM_138328.3(RHBDL3):c.982C>T (p.His328Tyr)	RHBDL3 (H267Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489237	NM_138328.3(RHBDL3):c.986C>T (p.Pro329Leu)	RHBDL3 (P268L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227816	NM_138328.3(RHBDL3):c.989C>T (p.Ser330Leu)	RHBDL3 (S269L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610774	NM_138328.3(RHBDL3):c.1019T>C (p.Phe340Ser)	RHBDL3 (F242S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154006	NM_138328.3(RHBDL3):c.1049G>A (p.Gly350Asp)	RHBDL3 (G342D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154007	NM_138328.3(RHBDL3):c.1094T>C (p.Leu365Pro)	RHBDL3 (L357P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307073	NM_138328.3(RHBDL3):c.1116G>T (p.Trp372Cys)	RHBDL3 (W311C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26