ClinVar for Gene (Select 9398) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264699	NM_001256106.3(CD101):c.2229C>A (p.His743Gln)	CD101 (H681Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3264697	NM_001256106.3(CD101):c.1156C>T (p.Arg386Cys)	CD101 (R324C +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 3140270	NM_001256106.3(CD101):c.834G>C (p.Gln278His)	CD101 (Q216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140269	NM_001256106.3(CD101):c.788T>A (p.Met263Lys)	CD101 (M201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140268	NM_001256106.3(CD101):c.646C>T (p.Arg216Trp)	CD101 (R216W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140267	NM_001256106.3(CD101):c.380A>G (p.Asp127Gly)	CD101 (D127G)	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 3140265	NM_001256106.3(CD101):c.262C>T (p.Arg88Trp)	CD101 (R88W)	Single nucleotide variant (missense variant)	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 3140257	NM_001256106.3(CD101):c.1594G>C (p.Val532Leu)	CD101 (V532L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140256	NM_001256106.3(CD101):c.1576T>C (p.Trp526Arg)	CD101 (W464R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140255	NM_001256106.3(CD101):c.1568A>G (p.Asp523Gly)	CD101 (D461G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140254	NM_001256106.3(CD101):c.1190A>G (p.Gln397Arg)	CD101 (Q397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063011	GRCh37/hg19 1p13.1-12(chr1:117338180-117990154)x1	CD101, MAN1A2 +4 more	Copy number loss	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 3034619	NM_001256106.3(CD101):c.2367C>T (p.Gly789=)	CD101	Single nucleotide variant (synonymous variant)	CD101-related disorder	GLikely benign
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 2611052	NM_001256106.3(CD101):c.310G>A (p.Val104Ile)	CD101 (V104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2556332	NM_001256106.3(CD101):c.2302G>A (p.Val768Met)	CD101 (V768M +1 more)	Single nucleotide variant (missense variant)	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 2553338	NM_001256106.3(CD101):c.2389A>G (p.Lys797Glu)	CD101 (K735E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546408	NM_001256106.3(CD101):c.2067C>G (p.Ile689Met)	CD101 (I689M +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 2508423	NM_001256106.3(CD101):c.1397A>T (p.Asp466Val)	CD101 (D466V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507736	NM_001256106.3(CD101):c.1075G>A (p.Ala359Thr)	CD101 (A297T +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 2476321	NM_001256106.3(CD101):c.739C>A (p.Leu247Met)	CD101 (L185M +1 more)	Single nucleotide variant (missense variant)	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 2470236	NM_001256106.3(CD101):c.731A>G (p.Gln244Arg)	CD101 (Q182R +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 2392542	NM_001256106.3(CD101):c.377C>A (p.Thr126Asn)	CD101 (T126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386083	NM_001256106.3(CD101):c.571G>A (p.Gly191Arg)	CD101 (G191R)	Single nucleotide variant (missense variant +1 more)	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 2369541	NM_001256106.3(CD101):c.2276A>T (p.Asp759Val)	CD101 (D697V +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 2362547	NM_001256106.3(CD101):c.2314G>A (p.Asp772Asn)	CD101 (D710N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353643	NM_001256106.3(CD101):c.1541C>G (p.Ser514Cys)	CD101 (S452C +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 2334168	NM_001256106.3(CD101):c.146A>G (p.Gln49Arg)	CD101 (Q49R)	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 2285137	NM_001256106.3(CD101):c.1286C>T (p.Thr429Ile)	CD101 (T367I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283539	NM_001256106.3(CD101):c.586A>G (p.Thr196Ala)	CD101 (T196A)	Single nucleotide variant (missense 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 2266668	NM_001256106.3(CD101):c.744C>A (p.Phe248Leu)	CD101 (F186L +1 more)	Single nucleotide variant (missense variant)	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 2261814	NM_001256106.3(CD101):c.8G>A (p.Gly3Asp)	CD101 (G3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256116	NM_001256106.3(CD101):c.2119C>A (p.Leu707Ile)	CD101 (L645I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255560	NM_001256106.3(CD101):c.1160C>A (p.Thr387Lys)	CD101 (T325K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234362	NM_001256106.3(CD101):c.269G>A (p.Arg90Gln)	CD101 (R90Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226502	NM_001256106.3(CD101):c.1606T>C (p.Ser536Pro)	CD101 (S474P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220199	NM_001256106.3(CD101):c.2095A>T (p.Ile699Phe)	CD101 (I699F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218780	NM_001256106.3(CD101):c.1552C>T (p.Arg518Trp)	CD101 (R518W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1280460	NM_001256106.3(CD101):c.674A>G (p.Asn225Ser)	CD101 (N163S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1178176	NM_001256106.3(CD101):c.1575C>G (p.Ser525Arg)	CD101 (S463R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
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 764733	NM_001256106.3(CD101):c.2111A>G (p.Asn704Ser)	CD101 (N642S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738561	NM_001256106.3(CD101):c.939A>G (p.Pro313=)	CD101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 728107	NM_001256106.3(CD101):c.1085T>C (p.Leu362Pro)	CD101 (L300P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
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
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 148763	GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3	CD101, CD101-AS1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 88