1925[HGNC] - 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 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 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 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 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 3033465	NM_001114122.3(CHEK1):c.-266T>A	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3044253	NM_001114122.3(CHEK1):c.-253A>T	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3052481	NM_001114122.3(CHEK1):c.-209G>A	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3043887	NM_001114122.3(CHEK1):c.-196A>G	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3041131	NM_001114122.3(CHEK1):c.-195C>T	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 3060002	NM_001114122.3(CHEK1):c.-191T>C	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3056356	NM_001114122.3(CHEK1):c.-188A>G	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3055541	NM_001114122.3(CHEK1):c.-182C>G	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3050406	NM_001114122.3(CHEK1):c.-170C>T	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 2633886	NM_001114122.3(CHEK1):c.-160C>T	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3350485	NM_001114122.3(CHEK1):c.-155G>C	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3035928	NM_001114122.3(CHEK1):c.-114G>T	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 3357727	NM_001114122.3(CHEK1):c.-92G>C	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3054794	NM_001114122.3(CHEK1):c.-89A>T	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 2628437	NM_001114122.3(CHEK1):c.-83T>C	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3035097	NM_001114122.3(CHEK1):c.-37G>A	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 3358460	NM_001114122.3(CHEK1):c.39A>G (p.Gln13=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	CHEK1-related disorder	GUncertain significance
Select item 1740312	NM_001114122.3(CHEK1):c.43C>T (p.Leu15=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1243629	NM_001114122.3(CHEK1):c.66-160A>G	CHEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496140	NM_001114122.3(CHEK1):c.85A>G (p.Arg29Gly)	CHEK1 (R29G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1766856	NM_001114122.3(CHEK1):c.93T>C (p.Thr31=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1779845	NM_001114122.3(CHEK1):c.105C>T (p.Val35=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2514773	NM_001114122.3(CHEK1):c.163G>A (p.Glu55Lys)	CHEK1 (E55K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144286	NM_001114122.3(CHEK1):c.230G>T (p.Gly77Val)	CHEK1 (G77V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 223667	NM_001114122.3(CHEK1):c.289+83T>G	CHEK1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223666	NM_001114122.3(CHEK1):c.290-173C>T	CHEK1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1735507	NM_001114122.3(CHEK1):c.384C>T (p.His128=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1738004	NM_001114122.3(CHEK1):c.411G>A (p.Leu137=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3266936	NM_001114122.3(CHEK1):c.415G>T (p.Asp139Tyr)	CHEK1 (D139Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1741747	NM_001114122.3(CHEK1):c.459A>C (p.Thr153=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2597061	NM_001114122.3(CHEK1):c.466C>T (p.Arg156Trp)	CHEK1 (R62W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634160	NM_001114122.3(CHEK1):c.467G>A (p.Arg156Gln)	CHEK1 (R156Q +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 2397567	NM_001114122.3(CHEK1):c.476A>T (p.Asn159Ile)	CHEK1 (N159I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 584519	NM_001114122.3(CHEK1):c.478C>T (p.Arg160Cys)	CHEK1 (R160C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3144287	NM_001114122.3(CHEK1):c.499A>T (p.Met167Leu)	CHEK1 (M167L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1746434	NM_001114122.3(CHEK1):c.525T>C (p.Ala175=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3064152	NM_001114122.3(CHEK1):c.563C>G (p.Pro188Arg)	CHEK1 (P188R +2 more)	Single nucleotide variant (missense variant +1 more)	Oocyte/zygote/embryo maturation arrest 21	GUncertain significance
Select item 3144288	NM_001114122.3(CHEK1):c.580T>C (p.Cys194Arg)	CHEK1 (C93R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637335	NM_001114122.3(CHEK1):c.586A>C (p.Ile196Leu)	CHEK1 (I102L +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3348743	NM_001114122.3(CHEK1):c.613_613+1delinsTT	CHEK1	Indel (splice donor variant)	CHEK1-related disorder	GUncertain significance
Select item 3036321	NM_001114122.3(CHEK1):c.614-8G>A	CHEK1	Single nucleotide variant (intron variant)	CHEK1-related disorder	GLikely benign
Select item 1753117	NM_001114122.3(CHEK1):c.636T>C (p.Ser212=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1753653	NM_001114122.3(CHEK1):c.645T>C (p.Cys215=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3059197	NM_001114122.3(CHEK1):c.676dup (p.Thr226fs)	CHEK1 (T125fs +2 more)	Duplication (frameshift variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 1756123	NM_001114122.3(CHEK1):c.690T>C (p.Pro230=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1757861	NM_001114122.3(CHEK1):c.723G>A (p.Leu241=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1759896	NM_001114122.3(CHEK1):c.762T>A (p.Ile254=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1760835	NM_001114122.3(CHEK1):c.783A>G (p.Lys261=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3346787	NM_001114122.3(CHEK1):c.806T>A (p.Leu269His)	CHEK1 (L168H +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3054384	NM_001114122.3(CHEK1):c.814+7del	CHEK1	Deletion (intron variant)	CHEK1-related disorder	GLikely benign
Select item 2634331	NM_001114122.3(CHEK1):c.830G>A (p.Arg277Gln)	CHEK1 (R176Q +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder +1 more	GUncertain significance
Select item 3144289	NM_001114122.3(CHEK1):c.844G>C (p.Gly282Arg)	CHEK1 (G181R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495165	NM_001114122.3(CHEK1):c.860C>T (p.Pro287Leu)	CHEK1 (P287L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1765460	NM_001114122.3(CHEK1):c.900C>T (p.Phe300=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2618542	NM_001114122.3(CHEK1):c.946A>G (p.Ser316Gly)	CHEK1 (S215G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1767257	NM_001114122.3(CHEK1):c.951T>C (p.Ser317=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2397701	NM_001114122.3(CHEK1):c.965G>A (p.Arg322His)	CHEK1 (R221H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1768483	NM_001114122.3(CHEK1):c.987T>C (p.Asp329=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1772170	NM_001114122.3(CHEK1):c.1002C>T (p.Tyr334=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1747016	NM_001114122.3(CHEK1):c.1017A>G (p.Val339=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2576413	NM_001114122.3(CHEK1):c.1036C>T (p.Gln346Ter)	CHEK1 (Q245* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 3266935	NM_001114122.3(CHEK1):c.1066A>C (p.Asn356His)	CHEK1 (N255H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745869	NM_001114122.3(CHEK1):c.1102-9G>A	CHEK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628966	NM_001114122.3(CHEK1):c.1114C>T (p.Arg372Trp)	CHEK1 (R271W +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 1796657	NM_001114122.3(CHEK1):c.1117T>C (p.Leu373=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 224566	NM_001114122.3(CHEK1):c.1135C>T (p.Arg379Ter)	CHEK1 (R379* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2663865	NM_001114122.3(CHEK1):c.1136G>A (p.Arg379Gln)	CHEK1 (R278Q +1 more)	Single nucleotide variant (missense variant +1 more)	Oocyte/zygote/embryo maturation arrest 21	GPathogenic
Select item 1741042	NM_001114122.3(CHEK1):c.1177C>T (p.Leu393=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3025300	NM_001114122.3(CHEK1):c.1200G>A (p.Leu400=)	CHEK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3144284	NM_001114122.3(CHEK1):c.1225A>G (p.Met409Val)	CHEK1 (M315V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 223664	NM_001114122.3(CHEK1):c.1234-26G>A	CHEK1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2663868	NM_001114122.3(CHEK1):c.1259G>A (p.Arg420Lys)	CHEK1 (R319K +1 more)	Single nucleotide variant (missense variant +2 more)	Oocyte/zygote/embryo maturation arrest 21	GPathogenic

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