4173[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 935

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 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	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, CTSB +67 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	GUncertain significance
Select item 472782	NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro)	GATA4 (Q3P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +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	GUncertain significance
Select item 2139939	NM_001308093.3(GATA4):c.12C>T (p.Ser4=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +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)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 1194176	NM_001308093.3(GATA4):c.15G>A (p.Leu5=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 846765	NM_001308093.3(GATA4):c.19A>G (p.Met7Val)	GATA4 (M7V)	Single nucleotide variant (missense 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)	Atrioventricular septal defect 4 +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 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 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 946748	NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del)	GATA4	Deletion (inframe_deletion +1 more)	Atrioventricular septal defect 4	GPathogenic
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
Select item 2505979	NM_001308093.3(GATA4):c.44C>A (p.Pro15His)	GATA4 (P15H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3221994	NM_001308093.3(GATA4):c.45C>T (p.Pro15=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2566795	NM_001308093.3(GATA4):c.51C>T (p.Ala17=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1452170	NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter)	GATA4 (Y18*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 1361119	NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter)	GATA4 (Y18*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 1481834	NM_001308093.3(GATA4):c.55G>A (p.Glu19Lys)	GATA4 (E19K)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance

<< First< Prev

Page of 10