ClinVar for Gene (Select 51805) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076319	NM_017421.4(COQ3):c.952T>A (p.Trp318Arg)	COQ3 (W318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076318	NM_017421.4(COQ3):c.951T>A (p.His317Gln)	COQ3 (H317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076316	NM_017421.4(COQ3):c.911T>C (p.Val304Ala)	COQ3 (V304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076315	NM_017421.4(COQ3):c.800C>T (p.Ser267Leu)	COQ3 (S267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076314	NM_017421.4(COQ3):c.757A>G (p.Ile253Val)	COQ3 (I253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076312	NM_017421.4(COQ3):c.523G>C (p.Asp175His)	COQ3 (D175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076311	NM_017421.4(COQ3):c.401A>C (p.Lys134Thr)	COQ3 (K134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2656779	NM_017421.4(COQ3):c.540C>T (p.Asn180=)	COQ3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533615	NM_017421.4(COQ3):c.634A>G (p.Thr212Ala)	COQ3 (T212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475055	NM_017421.4(COQ3):c.665C>T (p.Ser222Phe)	COQ3 (S222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402034	NM_017421.4(COQ3):c.691C>A (p.Leu231Ile)	COQ3 (L231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366423	NM_017421.4(COQ3):c.707A>G (p.Gln236Arg)	COQ3 (Q236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340071	NM_017421.4(COQ3):c.161A>G (p.Asn54Ser)	COQ3 (N54S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325515	NM_017421.4(COQ3):c.123G>T (p.Gln41His)	COQ3 (Q41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322844	NM_017421.4(COQ3):c.908C>T (p.Thr303Ile)	COQ3 (T303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292107	NM_017421.4(COQ3):c.887C>T (p.Ser296Leu)	COQ3 (S296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291054	NM_017421.4(COQ3):c.602G>A (p.Arg201Lys)	COQ3 (R201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248639	NM_017421.4(COQ3):c.505G>C (p.Ala169Pro)	COQ3 (A169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215881	NM_017421.4(COQ3):c.74C>A (p.Thr25Lys)	COQ3 (T25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215084	NM_017421.4(COQ3):c.722T>C (p.Val241Ala)	COQ3 (V241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206649	NM_017421.4(COQ3):c.1073G>A (p.Cys358Tyr)	COQ3 (C358Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1807771	GRCh37/hg19 6q16.1-16.2(chr6:97904220-99964434)x1	COQ3, FAXC +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 814851	GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1	CCNC, COQ3 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 775079	NM_017421.4(COQ3):c.604G>A (p.Val202Met)	COQ3 (V202M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685975	GRCh37/hg19 6q16.1-16.2(chr6:99158119-100269911)x1	FAXC, FBXL4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 563210	GRCh37/hg19 6q16.2(chr6:99651077-100126178)x3	COQ3, FAXC +5 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 560106	Single allele	COQ3, FAXC +28 more	Deletion	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45