23375[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 3055624	NM_001282680.3(GAPVD1):c.186-4_186-3del	GAPVD1	Deletion (intron variant)	GAPVD1-related disorder	GBenign
Select item 1335738	NM_001282680.3(GAPVD1):c.265T>C (p.Leu89=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3029008	NM_001282680.3(GAPVD1):c.335C>T (p.Ser112Phe)	GAPVD1 (S112F)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GUncertain significance
Select item 3044084	NM_001282680.3(GAPVD1):c.357A>G (p.Lys119=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1283313	NM_001282680.3(GAPVD1):c.597T>G (p.Thr199=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771429	NM_001282680.3(GAPVD1):c.850G>A (p.Val284Met)	GAPVD1 (V284M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3035149	NM_001282680.3(GAPVD1):c.1021C>T (p.Leu341=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1264778	NM_001282680.3(GAPVD1):c.1030-46T>C	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3036419	NM_001282680.3(GAPVD1):c.1083C>T (p.Pro361=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1270828	NM_001282680.3(GAPVD1):c.1107G>A (p.Lys369=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1250322	NM_001282680.3(GAPVD1):c.1128C>A (p.Ala376=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	FAM157B-related disorder +1 more	GBenign
Select item 3050306	NM_001282680.3(GAPVD1):c.1251+7G>A	GAPVD1	Single nucleotide variant (intron variant)	GAPVD1-related disorder	GLikely benign
Select item 1290078	NM_001282680.3(GAPVD1):c.1251+51G>A	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723391	NM_001282680.3(GAPVD1):c.1382A>G (p.Asn461Ser)	GAPVD1 (N461S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1334636	NM_001282680.3(GAPVD1):c.1429C>T (p.Arg477Ter)	GAPVD1 (R477*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3034748	NM_001282680.3(GAPVD1):c.1441+17G>T	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1230548	NM_001282680.3(GAPVD1):c.1441+68G>C	GAPVD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3031035	NM_001282680.3(GAPVD1):c.1442-8T>C	GAPVD1	Single nucleotide variant (intron variant)	GAPVD1-related disorder	GLikely benign
Select item 2634740	NM_001282680.3(GAPVD1):c.1460G>A (p.Arg487His)	GAPVD1 (R487H)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GUncertain significance
Select item 3060575	NM_001282680.3(GAPVD1):c.1518T>C (p.Ile506=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	FAM157B-related disorder	GBenign
Select item 1291598	NM_001282680.3(GAPVD1):c.1603-123A>C	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2635862	NM_001282680.3(GAPVD1):c.1691G>A (p.Arg564His)	GAPVD1 (R564H)	Single nucleotide variant (missense variant +2 more)	GAPVD1-related disorder	GUncertain significance
Select item 1274321	NM_001282680.3(GAPVD1):c.1733-44T>C	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3039020	NM_001282680.3(GAPVD1):c.1757T>C (p.Val586Ala)	GAPVD1 (V565A +1 more)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 722437	NM_001282680.3(GAPVD1):c.1858+10A>G	GAPVD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3033851	NM_001282680.3(GAPVD1):c.1938C>T (p.Asp646=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3048563	NM_001282680.3(GAPVD1):c.2196G>A (p.Glu732=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3057525	NM_001282680.3(GAPVD1):c.2253G>A (p.Thr751=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3046805	NM_001282680.3(GAPVD1):c.2428+10G>A	GAPVD1	Single nucleotide variant (intron variant)	GAPVD1-related disorder	GLikely benign
Select item 3049864	NM_001282680.3(GAPVD1):c.2429-1777A>T	GAPVD1 (Q833L)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3031714	NM_001282680.3(GAPVD1):c.2506+6C>G	GAPVD1	Single nucleotide variant (intron variant)	GAPVD1-related disorder	GLikely benign
Select item 2429802	NM_001282680.3(GAPVD1):c.2561del (p.Pro854fs)	GAPVD1 (P833fs +2 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 3058670	NM_001282680.3(GAPVD1):c.2631T>C (p.His877=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3037570	NM_001282680.3(GAPVD1):c.2791C>T (p.Pro931Ser)	GAPVD1 (P910S +2 more)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GBenign
Select item 3024816	NM_001282680.3(GAPVD1):c.2830C>T (p.Pro944Ser)	GAPVD1 (P923S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 791574	NM_001282680.3(GAPVD1):c.2898C>T (p.Ser966=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3043403	NM_001282680.3(GAPVD1):c.3261C>T (p.Ser1087=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3034432	NM_001282680.3(GAPVD1):c.3304G>T (p.Ala1102Ser)	GAPVD1 (A1054S +5 more)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1274881	NM_001282680.3(GAPVD1):c.3410-96G>A	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051713	NM_001282680.3(GAPVD1):c.3525T>C (p.Asn1175=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1285815	NM_001282680.3(GAPVD1):c.3570-116A>G	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659496	NM_001282680.3(GAPVD1):c.3774C>T (p.Thr1258=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582315	NM_001282680.3(GAPVD1):c.3916C>T (p.Arg1306Trp)	GAPVD1 (R1258W +5 more)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related Nephrotic syndrome	GUncertain significance
Select item 3052910	NM_001282680.3(GAPVD1):c.3936C>T (p.Phe1312=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1251021	NM_001282680.3(GAPVD1):c.3972-107A>G	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3039530	NM_001282680.3(GAPVD1):c.4008A>G (p.Val1336=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3054761	NM_001282680.3(GAPVD1):c.4128G>A (p.Val1376=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 3050782	NM_001282680.3(GAPVD1):c.4152T>G (p.Ser1384=)	GAPVD1	Single nucleotide variant (synonymous variant +1 more)	GAPVD1-related disorder	GLikely benign
Select item 1283705	NM_001282680.3(GAPVD1):c.4243-87A>T	GAPVD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629120	NM_001282680.3(GAPVD1):c.4366A>G (p.Ile1456Val)	GAPVD1 (I1408V +5 more)	Single nucleotide variant (missense variant +1 more)	GAPVD1-related disorder	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 76