"GeneDx"[submitter] AND "CYP26B1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235982	NM_019885.4(CYP26B1):c.*44T>C	CYP26B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1305469	NM_019885.4(CYP26B1):c.1505C>T (p.Pro502Leu)	CYP26B1 (P427L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2505921	NM_019885.4(CYP26B1):c.1443C>A (p.His481Gln)	CYP26B1 (H406Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201778	NM_019885.4(CYP26B1):c.1417C>A (p.Arg473Ser)	CYP26B1 (R398S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 790505	NM_019885.4(CYP26B1):c.1417C>T (p.Arg473Cys)	CYP26B1 (R398C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1266263	NM_019885.4(CYP26B1):c.1377T>C (p.Ala459=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 445321	NM_019885.4(CYP26B1):c.1259C>G (p.Ala420Gly)	CYP26B1 (A420G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1380344	NM_019885.4(CYP26B1):c.1208C>T (p.Ala403Val)	CYP26B1 (A403V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432606	NM_019885.4(CYP26B1):c.1190G>A (p.Arg397Gln)	CYP26B1 (R397Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1204411	NM_019885.4(CYP26B1):c.1147-20C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1254789	NM_019885.4(CYP26B1):c.1147-119G>A	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432607	NM_019885.4(CYP26B1):c.1088G>A (p.Arg363His)	CYP26B1 (R363H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370549	NM_019885.4(CYP26B1):c.1085T>C (p.Met362Thr)	CYP26B1 (M287T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697066	NM_019885.4(CYP26B1):c.1040C>T (p.Thr347Met)	CYP26B1 (T272M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1254530	NM_019885.4(CYP26B1):c.862-105G>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301105	NM_019885.4(CYP26B1):c.862-184C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213242	NM_019885.4(CYP26B1):c.861+217dup	CYP26B1	Duplication (intron variant)	not provided	GLikely benign
Select item 1211017	NM_019885.4(CYP26B1):c.861+191C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288765	NM_019885.4(CYP26B1):c.861+25G>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180923	NM_019885.4(CYP26B1):c.791T>C (p.Leu264Ser)	CYP26B1 (L189S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783332	NM_019885.4(CYP26B1):c.705+7A>G	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1194876	NM_019885.4(CYP26B1):c.687C>T (p.Pro229=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1700309	NM_019885.4(CYP26B1):c.628C>G (p.Leu210Val)	CYP26B1 (L135V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719382	NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)	CYP26B1 (R191H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1191798	NM_019885.4(CYP26B1):c.430-110T>G	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209010	NM_019885.4(CYP26B1):c.430-187C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185916	NM_019885.4(CYP26B1):c.429+147C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310354	NM_019885.4(CYP26B1):c.344C>T (p.Thr115Ile)	CYP26B1 (T115I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1194337	NM_019885.4(CYP26B1):c.205-144A>C	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270484	NM_019885.4(CYP26B1):c.205-233C>T	CYP26B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186247	NM_019885.4(CYP26B1):c.205-327T>G	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219531	NM_019885.4(CYP26B1):c.205-330G>C	CYP26B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251567	NM_019885.4(CYP26B1):c.186C>A (p.Thr62=)	CYP26B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1207606	NM_019885.4(CYP26B1):c.115G>A (p.Ala39Thr)	CYP26B1 (A39T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 719628	NM_019885.4(CYP26B1):c.64G>C (p.Val22Leu)	CYP26B1 (V22L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign

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Items: 35