17104[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 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 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 368942	NM_016952.4(CDON):c.*4135C>T	CDON	Single nucleotide variant	Holoprosencephaly sequence +1 more	GBenign
Select item 303372	NM_001378964.1(CDON):c.*4097A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303373	NM_001378964.1(CDON):c.*4080G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 878586	NM_001378964.1(CDON):c.*4063G>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303374	NM_001378964.1(CDON):c.*4052C>T	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 878587	NM_001378964.1(CDON):c.*4007G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 878588	NM_001378964.1(CDON):c.*4000C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303375	NM_001378964.1(CDON):c.*3972C>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GLikely benign
Select item 879178	NM_001378964.1(CDON):c.*3971G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303376	NM_001378964.1(CDON):c.*3919T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GLikely benign
Select item 303377	NM_001378964.1(CDON):c.*3916G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303378	NM_001378964.1(CDON):c.*3884T>G	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303379	NM_001378964.1(CDON):c.*3862G>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign
Select item 303380	NM_001378964.1(CDON):c.*3830G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 879179	NM_001378964.1(CDON):c.*3777G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303381	NM_001378964.1(CDON):c.*3765C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign
Select item 880383	NM_001378964.1(CDON):c.*3655T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303382	NM_001378964.1(CDON):c.*3628C>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303383	NM_001378964.1(CDON):c.*3610C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303384	NM_001378964.1(CDON):c.3522_3523del	CDON	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 880384	NM_001378964.1(CDON):c.*3514A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303385	NM_001378964.1(CDON):c.*3490T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign
Select item 303386	NM_001378964.1(CDON):c.*3481C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303387	NM_001378964.1(CDON):c.*3424T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303388	NM_001378964.1(CDON):c.*3409T>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 877614	NM_001378964.1(CDON):c.*3294A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 877615	NM_001378964.1(CDON):c.*3269G>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 877616	NM_001378964.1(CDON):c.*3235G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303389	NM_001378964.1(CDON):c.*3221A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GLikely benign
Select item 303390	NM_001378964.1(CDON):c.*3210A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303391	NM_001378964.1(CDON):c.*3176C>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GLikely benign
Select item 303392	NM_001378964.1(CDON):c.*3141A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign/Likely benign
Select item 303393	NM_001378964.1(CDON):c.*3133A>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303394	NM_001378964.1(CDON):c.*3104T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303395	NM_001378964.1(CDON):c.*3076T>A	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 878629	NM_001378964.1(CDON):c.*3060C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 878630	NM_001378964.1(CDON):c.*2999C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303396	NM_001378964.1(CDON):c.*2992T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 878631	NM_001378964.1(CDON):c.*2933C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 878632	NM_001378964.1(CDON):c.*2847G>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303397	NM_001378964.1(CDON):c.*2830A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign
Select item 303398	NM_001378964.1(CDON):c.*2769G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 879228	NM_001378964.1(CDON):c.*2760A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GUncertain significance
Select item 879229	NM_001378964.1(CDON):c.*2755A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303399	NM_001378964.1(CDON):c.*2749C>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign
Select item 303400	NM_001378964.1(CDON):c.*2740T>C	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303401	NM_001378964.1(CDON):c.*2734G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 880422	NM_001378964.1(CDON):c.*2730A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303402	NM_001378964.1(CDON):c.*2717C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303403	NM_001378964.1(CDON):c.*2705C>T	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303404	NM_001378964.1(CDON):c.*2698T>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303405	NM_001378964.1(CDON):c.*2640A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303406	NM_001378964.1(CDON):c.*2580G>C	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GUncertain significance
Select item 303407	NM_001378964.1(CDON):c.*2573G>A	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11	GBenign
Select item 303409	NM_001378964.1(CDON):c.*2377TA[12]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303408	NM_001378964.1(CDON):c.*2377TA[10]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303413	NM_001378964.1(CDON):c.*2381CA[5]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 303412	NM_001378964.1(CDON):c.*2381CA[3]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303411	NM_001378964.1(CDON):c.2380_2381insCACA	CDON	Insertion (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 303410	NM_001378964.1(CDON):c.2380_2381insCA	CDON	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303420	NM_001378964.1(CDON):c.*2379T>C	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303419	NM_001378964.1(CDON):c.*2379CA[3]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303418	NM_001378964.1(CDON):c.2378_2379insCA	CDON	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303417	NM_001378964.1(CDON):c.2377_2379delinsCACACACACACACAC	CDON	Indel (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303416	NM_001378964.1(CDON):c.2377_2379delinsCACACACACAC	CDON	Indel (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303415	NM_001378964.1(CDON):c.*2379CA[6]	CDON	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 303421	NM_001378964.1(CDON):c.2373_2378del	CDON	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 303440	NM_001378964.1(CDON):c.*2351CA[16]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 303437	NM_001378964.1(CDON):c.*2377T>C	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 303436	NM_001378964.1(CDON):c.*2351CA[17]	CDON	Microsatellite (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 303435	NM_001378964.1(CDON):c.*2376AC[6]ATA[1]	CDON	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 303434	NM_001378964.1(CDON):c.*2376AC[5]ATA[1]	CDON	Insertion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance

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