2626[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	LINC02905, LINC02949 +381 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +980 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860453, LOC126860454 +3663 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	AGPAT5, ANGPT2 +394 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	CTHRC1, CTSB +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	ARHGEF10, AGPAT5 +449 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	ADAM28, ADAM7 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	AGPAT5, ANGPT2 +394 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1106 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC121294076, LOC121740708 +688 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	XKR6, ZDHHC2 +472 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860334, LOC126860335 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000153, LOC130000154 +997 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC108281171, LOC108281187 +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +737 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	AGPAT5, ANGPT2 +721 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	LOC129999874, LOC129999875 +774 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +774 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	LOC129999903, LOC129999904 +257 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC130000192, LOC130000193 +1021 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	BLK, BLK-AS1 +259 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, BLK-AS1 +261 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, BLK-AS1 +256 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	BLK, BLK-AS1 +256 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	PRAG1, PRR23D1 +233 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK-AS1, DEFB106B +242 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, BLK-AS1 +218 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, BLK-AS1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	BLK, BLK-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, BLK-AS1 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, BLK-AS1 +206 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, BLK-AS1 +209 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, BLK-AS1 +197 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, BLK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, BLK-AS1 +196 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, BLK-AS1 +194 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, BLK-AS1 +208 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, BLK-AS1 +190 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, BLK-AS1 +207 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, BLK-AS1 +202 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, BLK-AS1 +190 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	C8orf74, CLDN23 +206 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, BLK-AS1 +189 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	BLK, BLK-AS1 +188 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, BLK-AS1 +188 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	BLK, BLK-AS1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	BLK, BLK-AS1 +123 more	Copy number gain	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, BLK-AS1 +117 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999864, LOC129999876 +89 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, BLK-AS1 +68 more	Copy number gain	See cases	GPathogenic
Select item 539991	NC_000008.11:g.(?_11703278)_(11758495_?)del	GATA4, LOC110120689 +6 more	Deletion	Atrioventricular septal defect 4	GPathogenic
Select item 472766	NC_000008.10:g.(?_11560787)_(11616004_?)dup	GATA4, LOC110120689 +6 more	Duplication	Atrioventricular septal defect 4	GUncertain significance
Select item 404063	NC_000008.11:g.11703278T>C	GATA4, LOC110121280	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 3353721	NC_000008.11:g.11703279A>G	GATA4, LOC110121280	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 539983	NC_000008.11:g.11703355C>A	GATA4, LOC110121280	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GBenign
Select item 1249989	NM_001308094.2(GATA4):c.-6+2939A>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629206	NM_002052.4(GATA4):c.-912C>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GUncertain significance
Select item 3051625	NC_000008.11:g.11703892G>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 1189580	NC_000008.11:g.11703892G>C	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054605	NC_000008.11:g.11703906G>A	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 1191705	NM_001308094.2(GATA4):c.-6+3189G>A	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238785	NM_001308094.2(GATA4):c.-6+3194G>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169270	NM_001308093.3(GATA4):c.-543C>T	GATA4	Single nucleotide variant (5 prime UTR variant +1 more)	Atrioventricular septal defect 4 +1 more	GBenign
Select item 1301633	NM_001308093.3(GATA4):c.-458+5G>A	GATA4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1236492	NM_001308093.3(GATA4):c.-457-278C>A	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207411	NM_001308093.3(GATA4):c.-306C>T	GATA4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201386	NM_001308093.3(GATA4):c.-294G>T	GATA4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2132283	NM_001308093.3(GATA4):c.-2_5del (p.Met1fs)	GATA4 (M1fs)	Deletion (frameshift variant +2 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2658409	NM_001308093.3(GATA4):c.7C>G (p.Gln3Glu)	GATA4 (Q3E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 472782	NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro)	GATA4 (Q3P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2697204	NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn)	GATA4 (S4N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2139939	NM_001308093.3(GATA4):c.12C>T (p.Ser4=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2007353	NM_001308093.3(GATA4):c.12C>A (p.Ser4Arg)	GATA4 (S4R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 412734	NM_001308093.3(GATA4):c.13T>C (p.Leu5=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3519063	NM_001308093.3(GATA4):c.15G>C (p.Leu5Phe)	GATA4 (L5F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1194176	NM_001308093.3(GATA4):c.15G>A (p.Leu5=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 3390558	NM_001308093.3(GATA4):c.17C>T (p.Ala6Val)	GATA4 (A6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 846765	NM_001308093.3(GATA4):c.19A>G (p.Met7Val)	GATA4 (M7V)	Single nucleotide variant (intron variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 851716	NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser)	GATA4 (A8S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 219226	NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp)	GATA4 (A8D)	Single nucleotide variant (missense variant +1 more)	Congenital heart disease	GPathogenic
Select item 2704530	NM_001308093.3(GATA4):c.24C>T (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2452500	NM_001308093.3(GATA4):c.24C>A (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2081328	NM_001308093.3(GATA4):c.24C>G (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 219227	NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)	GATA4 (A9T)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot	GUncertain significance
Select item 219231	NM_001308093.3(GATA4):c.27C>A (p.Ala9=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Congenital heart disease	GPathogenic
Select item 3280847	NM_001308093.3(GATA4):c.30C>T (p.Asn10=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1369253	NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys)	GATA4 (N10K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 934654	NM_001308093.3(GATA4):c.31C>A (p.His11Asn)	GATA4 (H11N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2083586	NM_001308093.3(GATA4):c.32A>C (p.His11Pro)	GATA4 (H11P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2140097	NM_001308093.3(GATA4):c.34G>T (p.Gly12Trp)	GATA4 (G12W)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 644697	NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg)	GATA4 (G12R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3519051	NM_001308093.3(GATA4):c.36G>C (p.Gly12=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2162076	NM_001308093.3(GATA4):c.36G>A (p.Gly12=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 3670666	NM_001308093.3(GATA4):c.37C>T (p.Pro13Ser)	GATA4 (P13S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 3519052	NM_001308093.3(GATA4):c.39G>C (p.Pro13=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1691747	NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg)	GATA4 (P14R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3519053	NM_001308093.3(GATA4):c.42C>T (p.Pro14=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 946748	NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del)	GATA4	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1013870	NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser)	GATA4 (P15S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance

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