Related gene-specific medical variations for Gene (Select 401463) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133811	NM_152414.5(BHLHE22):c.826T>G (p.Ser276Ala)	BHLHE22, BHLHE22-AS1 (S276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133810	NM_152414.5(BHLHE22):c.556A>G (p.Asn186Asp)	BHLHE22, BHLHE22-AS1 (N186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133809	NM_152414.5(BHLHE22):c.514G>C (p.Gly172Arg)	BHLHE22, BHLHE22-AS1 (G172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133808	NM_152414.5(BHLHE22):c.37G>C (p.Gly13Arg)	BHLHE22, BHLHE22-AS1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133807	NM_152414.5(BHLHE22):c.305G>C (p.Gly102Ala)	BHLHE22, BHLHE22-AS1 (G102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133806	NM_152414.5(BHLHE22):c.289G>A (p.Gly97Arg)	BHLHE22, BHLHE22-AS1 (G97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133805	NM_152414.5(BHLHE22):c.101C>G (p.Ala34Gly)	BHLHE22, BHLHE22-AS1 (A34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617253	NM_152414.5(BHLHE22):c.1028A>C (p.Gln343Pro)	BHLHE22, BHLHE22-AS1 (Q343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616659	NM_152414.5(BHLHE22):c.670G>A (p.Gly224Ser)	BHLHE22, BHLHE22-AS1 (G224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614116	NM_152414.5(BHLHE22):c.680G>A (p.Ser227Asn)	BHLHE22, BHLHE22-AS1 (S227N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609303	NM_152414.5(BHLHE22):c.604G>T (p.Gly202Cys)	BHLHE22, BHLHE22-AS1 (G202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604863	NM_152414.5(BHLHE22):c.664G>A (p.Gly222Ser)	BHLHE22, BHLHE22-AS1 (G222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545444	NM_152414.5(BHLHE22):c.196G>C (p.Glu66Gln)	BHLHE22, BHLHE22-AS1 (E66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542077	NM_152414.5(BHLHE22):c.384G>C (p.Lys128Asn)	BHLHE22, BHLHE22-AS1 +1 more (K128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511937	NM_152414.5(BHLHE22):c.406G>C (p.Gly136Arg)	BHLHE22, BHLHE22-AS1 +1 more (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495065	NM_152414.5(BHLHE22):c.325G>A (p.Gly109Ser)	BHLHE22, BHLHE22-AS1 (G109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483550	NM_152414.5(BHLHE22):c.671G>C (p.Gly224Ala)	BHLHE22, BHLHE22-AS1 (G224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454580	NM_152414.5(BHLHE22):c.1034C>T (p.Ala345Val)	BHLHE22, BHLHE22-AS1 (A345V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410084	NM_152414.5(BHLHE22):c.691A>G (p.Ser231Gly)	BHLHE22, BHLHE22-AS1 (S231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382105	NM_152414.5(BHLHE22):c.233C>G (p.Pro78Arg)	BHLHE22, BHLHE22-AS1 (P78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366145	NM_152414.5(BHLHE22):c.673G>A (p.Gly225Ser)	BHLHE22, BHLHE22-AS1 (G225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365598	NM_152414.5(BHLHE22):c.287G>A (p.Gly96Asp)	BHLHE22, BHLHE22-AS1 (G96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349381	NM_152414.5(BHLHE22):c.682A>G (p.Ser228Gly)	BHLHE22, BHLHE22-AS1 (S228G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349380	NM_152414.5(BHLHE22):c.679A>G (p.Ser227Gly)	BHLHE22, BHLHE22-AS1 (S227G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334920	NM_152414.5(BHLHE22):c.38G>A (p.Gly13Asp)	BHLHE22, BHLHE22-AS1 (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298750	NM_152414.5(BHLHE22):c.692G>C (p.Ser231Thr)	BHLHE22, BHLHE22-AS1 (S231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282704	NM_152414.5(BHLHE22):c.7C>A (p.Arg3Ser)	BHLHE22, BHLHE22-AS1 (R3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261755	NM_152414.5(BHLHE22):c.961C>G (p.Leu321Val)	BHLHE22, BHLHE22-AS1 (L321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250442	NM_152414.5(BHLHE22):c.1060C>T (p.Pro354Ser)	BHLHE22, BHLHE22-AS1 (P354S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217822	NM_152414.5(BHLHE22):c.596G>A (p.Gly199Asp)	BHLHE22, BHLHE22-AS1 (G199D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777832	NM_152414.5(BHLHE22):c.660T>C (p.Gly220=)	BHLHE22, BHLHE22-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218845	NM_152414.5(BHLHE22):c.661AGCGGC[3] (p.219SG[4])	BHLHE22, BHLHE22-AS1	Microsatellite (inframe_insertion)	not specified	GLikely benign

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Links from Gene

Items: 32