28521[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 148247	GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1	LOC130000846, LOC130000847 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 57124	GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3	ANKRD46, FBXO43 +77 more	Copy number gain	See cases	GPathogenic
Select item 2363583	NM_001029860.4(FBXO43):c.2108G>A (p.Arg703Gln)	FBXO43 (R703Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278192	NM_001029860.4(FBXO43):c.2041T>G (p.Cys681Gly)	FBXO43 (C681G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1332891	NM_001029860.4(FBXO43):c.1991G>A (p.Gly664Asp)	FBXO43	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 64	GPathogenic
Select item 3093757	NM_001029860.4(FBXO43):c.1979G>A (p.Arg660Gln)	FBXO43 (R660Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1332892	NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter)	FBXO43	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 64 +1 more	GPathogenic
Select item 3250702	NM_001029860.4(FBXO43):c.1709G>A (p.Arg570Gln)	FBXO43 (R570Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3278191	NM_001029860.4(FBXO43):c.1693G>A (p.Glu565Lys)	FBXO43 (E565K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594013	NM_001029860.4(FBXO43):c.1675G>A (p.Gly559Arg)	FBXO43 (G559R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406591	NM_001029860.4(FBXO43):c.1593T>A (p.Asn531Lys)	FBXO43 (N531K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514708	NM_001029860.4(FBXO43):c.1569C>G (p.Cys523Trp)	FBXO43 (C523W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583068	NM_001029860.4(FBXO43):c.1554C>T (p.Thr518=)	FBXO43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579053	NM_001029860.4(FBXO43):c.1554C>G (p.Thr518=)	FBXO43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622642	NM_001029860.4(FBXO43):c.1510A>G (p.Arg504Gly)	FBXO43 (R504G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1332893	NM_001029860.4(FBXO43):c.1490_1497dup (p.Glu500delinsSerTer)	FBXO43	Duplication (nonsense +1 more)	Oocyte maturation defect 12	GPathogenic
Select item 2482751	NM_001029860.4(FBXO43):c.1411G>A (p.Asp471Asn)	FBXO43 (D471N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3278190	NM_001029860.4(FBXO43):c.1388G>C (p.Gly463Ala)	FBXO43 (G463A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3093756	NM_001029860.4(FBXO43):c.1370G>T (p.Arg457Ile)	FBXO43 (R457I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093755	NM_001029860.4(FBXO43):c.1339C>T (p.His447Tyr)	FBXO43 (H447Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588108	NM_001029860.4(FBXO43):c.1278G>C (p.Glu426Asp)	FBXO43 (E426D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615626	NM_001029860.4(FBXO43):c.1268G>A (p.Ser423Asn)	FBXO43 (S423N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658711	NM_001029860.4(FBXO43):c.1152G>A (p.Leu384=)	FBXO43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2325751	NM_001029860.4(FBXO43):c.1049A>G (p.Asp350Gly)	FBXO43 (D350G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531393	NM_001029860.4(FBXO43):c.1045T>A (p.Ser349Thr)	FBXO43 (S349T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377991	NM_001029860.4(FBXO43):c.917T>C (p.Leu306Pro)	FBXO43 (L306P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093762	NM_001029860.4(FBXO43):c.859G>A (p.Val287Ile)	FBXO43 (V287I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590046	NM_001029860.4(FBXO43):c.771T>G (p.Asn257Lys)	FBXO43 (N257K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546483	NM_001029860.4(FBXO43):c.706G>A (p.Asp236Asn)	FBXO43 (D236N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093761	NM_001029860.4(FBXO43):c.687G>T (p.Gln229His)	FBXO43 (Q229H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347948	NM_001029860.4(FBXO43):c.682T>G (p.Ser228Ala)	FBXO43 (S228A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524850	NM_001029860.4(FBXO43):c.547G>A (p.Val183Ile)	FBXO43 (V183I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341736	NM_001029860.4(FBXO43):c.521G>C (p.Ser174Thr)	FBXO43 (S174T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3093760	NM_001029860.4(FBXO43):c.406G>A (p.Asp136Asn)	FBXO43 (D136N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093759	NM_001029860.4(FBXO43):c.319C>T (p.His107Tyr)	FBXO43 (H107Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472173	NM_001029860.4(FBXO43):c.314A>G (p.Tyr105Cys)	FBXO43 (Y105C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093758	NM_001029860.4(FBXO43):c.305C>T (p.Thr102Ile)	FBXO43 (T102I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658712	NM_001029860.4(FBXO43):c.192C>T (p.Phe64=)	FBXO43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1332894	NM_001029860.4(FBXO43):c.154del (p.Asp52fs)	FBXO43 (D52fs)	Deletion (frameshift variant +1 more)	Oocyte maturation defect 12	GPathogenic
Select item 2554797	NM_001029860.4(FBXO43):c.128C>T (p.Ala43Val)	FBXO43 (A43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244444	NM_001029860.4(FBXO43):c.26G>T (p.Arg9Ile)	FBXO43 (R9I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063043	GRCh37/hg19 8q22.2(chr8:100709537-101192245)x3	COX6C, FBXO43 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685318	GRCh37/hg19 8q22.2-22.3(chr8:100446969-102315070)x1	ANKRD46, COX6C +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 1809446	GRCh37/hg19 8q22.2(chr8:100791384-101278033)x3	COX6C, FBXO43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, ATP6V1C1 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 815149	GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3	POLR2K, RNF19A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563534	GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1	COX6C, UBR5 +17 more	Copy number loss	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 221467	GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3	SPAG1, VPS13B +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 82