Related gene-specific medical variations for Gene (Select 9398) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264698	NM_001256106.3(CD101):c.1807T>A (p.Trp603Arg)	CD101, LOC126805841 (W541R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264696	NM_001256106.3(CD101):c.1801A>G (p.Ile601Val)	CD101, LOC126805841 (I539V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140266	NM_001256106.3(CD101):c.2660C>T (p.Ser887Leu)	CD101, CD101-AS1 (S825L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140264	NM_001256106.3(CD101):c.2440C>T (p.Arg814Cys)	CD101, CD101-AS1 (R752C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140262	NM_001256106.3(CD101):c.1960C>T (p.Arg654Cys)	CD101, LOC126805841 (R592C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140261	NM_001256106.3(CD101):c.1938C>G (p.Asp646Glu)	CD101, LOC126805841 (D584E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140260	NM_001256106.3(CD101):c.1850C>T (p.Ser617Leu)	CD101, LOC126805841 (S617L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140259	NM_001256106.3(CD101):c.1642C>T (p.Arg548Cys)	CD101, LOC126805841 (R548C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140258	NM_001256106.3(CD101):c.1632T>A (p.Ser544Arg)	CD101, LOC126805841 (S544R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052106	NM_001256106.3(CD101):c.2004_2017+6del	CD101, LOC126805841	Deletion (splice donor variant)	CD101-related disorder	GUncertain significance
Select item 2639029	NM_001256106.3(CD101):c.2649C>T (p.His883=)	CD101, CD101-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2639028	NM_001256106.3(CD101):c.1614G>A (p.Glu538=)	CD101, LOC126805841	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589031	NM_001256106.3(CD101):c.2497C>T (p.Arg833Cys)	CD101, CD101-AS1 (R771C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2570151	NM_001256106.3(CD101):c.2659T>C (p.Ser887Pro)	CD101, CD101-AS1 (S825P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556139	NM_001256106.3(CD101):c.1855T>A (p.Ser619Thr)	CD101, LOC126805841 (S557T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542763	NM_001256106.3(CD101):c.2857G>C (p.Ala953Pro)	CD101, CD101-AS1 (A891P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493354	NM_001256106.3(CD101):c.2587G>A (p.Val863Met)	CD101, CD101-AS1 (V801M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2492784	NM_001256106.3(CD101):c.2005G>T (p.Val669Phe)	CD101, LOC126805841 (V607F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486825	NM_001256106.3(CD101):c.2647C>A (p.His883Asn)	CD101, CD101-AS1 (H821N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2475619	NM_001256106.3(CD101):c.2902C>T (p.Leu968Phe)	CD101, CD101-AS1 (L906F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464739	NM_001256106.3(CD101):c.1961G>A (p.Arg654His)	CD101, LOC126805841 (R592H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406069	NM_001256106.3(CD101):c.1904C>T (p.Thr635Ile)	CD101, LOC126805841 (T573I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376197	NM_001256106.3(CD101):c.3032G>A (p.Arg1011Lys)	CD101, CD101-AS1 (R1011K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370835	NM_001256106.3(CD101):c.1666A>G (p.Asn556Asp)	CD101, LOC126805841 (N494D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364211	NM_001256106.3(CD101):c.1883A>G (p.His628Arg)	CD101, LOC126805841 (H566R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335146	NM_001256106.3(CD101):c.1849T>A (p.Ser617Thr)	CD101, LOC126805841 (S555T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320422	NM_001256106.3(CD101):c.1967C>T (p.Pro656Leu)	CD101, LOC126805841 (P656L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310908	NM_001256106.3(CD101):c.2629G>T (p.Gly877Trp)	CD101, CD101-AS1 (G877W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275119	NM_001256106.3(CD101):c.2802G>C (p.Met934Ile)	CD101, CD101-AS1 (M934I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263267	NM_001256106.3(CD101):c.2887C>T (p.Pro963Ser)	CD101, CD101-AS1 (P901S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786856	NM_001256106.3(CD101):c.1865G>A (p.Arg622His)	CD101, LOC126805841 (R560H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783942	NM_001256106.3(CD101):c.2955A>G (p.Ser985=)	CD101, CD101-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782386	NM_001256106.3(CD101):c.2798G>A (p.Arg933Gln)	CD101, CD101-AS1 (R871Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 780258	NM_001256106.3(CD101):c.2974C>T (p.Arg992Trp)	CD101, CD101-AS1 (R930W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775590	NM_001256106.3(CD101):c.1951T>G (p.Tyr651Asp)	CD101, LOC126805841 (Y589D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728720	NM_001256106.3(CD101):c.2808C>A (p.Leu936=)	CD101, CD101-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Links from Gene

Items: 36