28960[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 3271118	NM_014026.6(DCPS):c.7G>A (p.Asp3Asn)	DCPS, LOC130007028 +1 more (D3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368227	NM_014026.6(DCPS):c.16C>T (p.Pro6Ser)	DCPS, LOC130007028 +1 more (P6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2513013	NM_014026.6(DCPS):c.17C>T (p.Pro6Leu)	DCPS, LOC130007028 +1 more (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241517	NM_014026.6(DCPS):c.25G>C (p.Gly9Arg)	DCPS, LOC130007028 +1 more (G9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080584	NM_014026.6(DCPS):c.37C>A (p.Arg13Ser)	DCPS, LOC130007028 +1 more (R13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335683	NM_014026.6(DCPS):c.41A>G (p.Glu14Gly)	DCPS, LOC130007028 +1 more (E14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271113	NM_014026.6(DCPS):c.47A>C (p.Asp16Ala)	DCPS, LOC130007028 +1 more (D16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229271	NM_014026.6(DCPS):c.63C>T (p.His21=)	DCPS, LOC130007028 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3271116	NM_014026.6(DCPS):c.70A>C (p.Ser24Arg)	DCPS, TIRAP-AS1 (S24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560071	NM_014026.6(DCPS):c.71G>A (p.Ser24Asn)	DCPS, TIRAP-AS1 (S24N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500319	NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)	DCPS, TIRAP-AS1 (E29D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3343505	NM_014026.6(DCPS):c.134C>G (p.Ser45Cys)	DCPS, TIRAP-AS1 (S45C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2229637	NM_014026.6(DCPS):c.136G>A (p.Gly46Ser)	DCPS, TIRAP-AS1 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480214	NM_014026.6(DCPS):c.161G>T (p.Arg54Met)	DCPS, TIRAP-AS1 (R54M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229675	NM_014026.6(DCPS):c.189C>T (p.Phe63=)	DCPS, TIRAP-AS1	Single nucleotide variant (synonymous variant)	Al-Raqad syndrome +1 more	GBenign
Select item 3075731	NM_014026.6(DCPS):c.201+1G>T	DCPS, TIRAP-AS1 (V68L)	Single nucleotide variant (non-coding transcript variant +2 more)	Al-Raqad syndrome	GLikely pathogenic
Select item 372233	NM_014026.6(DCPS):c.201+2T>C	DCPS, TIRAP-AS1 (V68A)	Single nucleotide variant (missense variant +1 more)	Al-Raqad syndrome	GPathogenic
Select item 1031228	NM_014026.6(DCPS):c.201+4C>G	DCPS, TIRAP-AS1 (P69A)	Single nucleotide variant (intron variant +1 more)	Al-Raqad syndrome	GUncertain significance
Select item 3068672	NM_014026.6(DCPS):c.219GGATGG[3] (p.Gly77_Glu78insAspGly)	DCPS	Microsatellite (inframe_insertion)	Al-Raqad syndrome	GBenign
Select item 2598554	NM_014026.6(DCPS):c.227A>T (p.Asp76Val)	DCPS (D76V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642531	NM_014026.6(DCPS):c.240C>T (p.Ala80=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3271115	NM_014026.6(DCPS):c.253G>A (p.Glu85Lys)	DCPS (E85K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638276	NM_014026.6(DCPS):c.260C>T (p.Thr87Met)	DCPS (T87M +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GPathogenic
Select item 726067	NM_014026.6(DCPS):c.273G>A (p.Val91=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280911	NM_014026.6(DCPS):c.283G>C (p.Ala95Pro)	DCPS (A102P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255461	NM_014026.6(DCPS):c.315G>A (p.Gln105=)	DCPS	Single nucleotide variant (synonymous variant)	Al-Raqad syndrome +1 more	GBenign
Select item 1031229	NM_014026.6(DCPS):c.329A>G (p.Asn110Ser)	DCPS (N117S +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 2642532	NM_014026.6(DCPS):c.377-1024C>T	DCPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1031230	NM_014026.6(DCPS):c.386C>T (p.Thr129Met)	DCPS (T129M +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 3080585	NM_014026.6(DCPS):c.415C>T (p.His139Tyr)	DCPS (H146Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 424491	NM_014026.6(DCPS):c.433C>T (p.Arg145Cys)	DCPS (R145C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3080586	NM_014026.6(DCPS):c.445C>T (p.Arg149Cys)	DCPS (R149C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331450	NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)	DCPS (R152* +1 more)	Single nucleotide variant (nonsense)	Al-Raqad syndrome	GLikely pathogenic
Select item 3271117	NM_014026.6(DCPS):c.455G>A (p.Arg152Gln)	DCPS (R152Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466686	NM_014026.6(DCPS):c.461C>T (p.Thr154Met)	DCPS (T154M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734060	NM_014026.6(DCPS):c.501G>A (p.Glu167=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642533	NM_014026.6(DCPS):c.510C>T (p.Ser170=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743364	NM_014026.6(DCPS):c.530A>G (p.Tyr177Cys)	DCPS (Y177C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2301113	NM_014026.6(DCPS):c.535A>C (p.Ile179Leu)	DCPS (I186L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339155	NM_014026.6(DCPS):c.541G>C (p.Asp181His)	DCPS (D188H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033249	NM_014026.6(DCPS):c.541G>A (p.Asp181Asn)	DCPS (D188N +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 1031231	NM_014026.6(DCPS):c.550G>A (p.Ala184Thr)	DCPS (A184T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2339036	NM_014026.6(DCPS):c.557C>T (p.Ala186Val)	DCPS (A186V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712729	NM_014026.6(DCPS):c.558G>A (p.Ala186=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 430387	NM_014026.6(DCPS):c.562C>T (p.Arg188Trp)	DCPS (R188W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 732222	NM_014026.6(DCPS):c.574G>C (p.Glu192Gln)	DCPS (E199Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2213801	NM_014026.6(DCPS):c.578A>G (p.Asn193Ser)	DCPS (N193S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479543	NM_014026.6(DCPS):c.611C>G (p.Pro204Arg)	DCPS (P204R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372234	NM_014026.6(DCPS):c.636+1G>A	DCPS	Single nucleotide variant (splice donor variant)	Al-Raqad syndrome	GPathogenic
Select item 3053739	NM_014026.6(DCPS):c.636+5A>C	DCPS	Single nucleotide variant (intron variant)	DCPS-related disorder	GLikely benign
Select item 1176928	NM_014026.6(DCPS):c.637-6A>G	DCPS, GSEC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879218	NM_014026.6(DCPS):c.670C>T (p.Arg224Cys)	GSEC, DCPS (R224C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376909	NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)	DCPS, GSEC (G226D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2534038	NM_014026.6(DCPS):c.691C>T (p.Arg231Cys)	DCPS, GSEC (R238C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033250	NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)	DCPS, GSEC (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3080587	NM_014026.6(DCPS):c.715C>T (p.Pro239Ser)	DCPS, GSEC (P246S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732989	NM_014026.6(DCPS):c.717G>A (p.Pro239=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2575318	NM_014026.6(DCPS):c.724A>G (p.Arg242Gly)	DCPS, GSEC (R242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339725	NM_014026.6(DCPS):c.739_747+22del	DCPS, GSEC	Deletion (splice donor variant)	not specified	GUncertain significance
Select item 3080588	NM_014026.6(DCPS):c.752C>T (p.Ala251Val)	DCPS, GSEC (A258V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501414	NM_014026.6(DCPS):c.769C>T (p.Arg257Trp)	DCPS, GSEC (R257W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033251	NM_014026.6(DCPS):c.791G>T (p.Arg264Leu)	DCPS, GSEC (R264L +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 377334	NM_014026.6(DCPS):c.791G>A (p.Arg264Gln)	DCPS, GSEC (R264Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3080589	NM_014026.6(DCPS):c.800T>G (p.Leu267Arg)	DCPS, GSEC (L267R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749774	NM_014026.6(DCPS):c.804C>T (p.His268=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3271119	NM_014026.6(DCPS):c.844G>A (p.Ala282Thr)	DCPS, GSEC (A282T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733947	NM_014026.6(DCPS):c.855C>T (p.Phe285=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080590	NM_014026.6(DCPS):c.856G>A (p.Glu286Lys)	DCPS, GSEC (E293K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445957	NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)	DCPS, GSEC (E286* +1 more)	Single nucleotide variant (nonsense)	Al-Raqad syndrome	GLikely pathogenic
Select item 2642534	NM_014026.6(DCPS):c.861C>T (p.Ala287=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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