ClinVar for Gene (Select 84553) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277898	NM_032511.4(FAXC):c.1086C>G (p.Ser362Arg)	FAXC (S309R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277896	NM_032511.4(FAXC):c.1132A>G (p.Ser378Gly)	FAXC (S257G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093234	NM_032511.4(FAXC):c.860C>A (p.Thr287Asn)	FAXC (T234N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093233	NM_032511.4(FAXC):c.782T>C (p.Met261Thr)	FAXC (M261T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093231	NM_032511.4(FAXC):c.1180G>A (p.Asp394Asn)	FAXC (D341N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093230	NM_032511.4(FAXC):c.110C>G (p.Ser37Cys)	FAXC (S37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093229	NM_032511.4(FAXC):c.108C>A (p.Phe36Leu)	FAXC (F36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093228	NM_032511.4(FAXC):c.1002G>T (p.Trp334Cys)	FAXC (W213C +2 more)	Single nucleotide variant (missense variant +1 more)	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 2616113	NM_032511.4(FAXC):c.23C>T (p.Ala8Val)	FAXC (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602706	NM_032511.4(FAXC):c.556A>G (p.Ile186Val)	FAXC (I65V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2553352	NM_032511.4(FAXC):c.905C>A (p.Thr302Asn)	FAXC (T249N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518284	NM_032511.4(FAXC):c.1098G>T (p.Arg366Ser)	FAXC (R366S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494380	NM_032511.4(FAXC):c.32G>C (p.Arg11Thr)	FAXC (R11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405235	NM_032511.4(FAXC):c.691A>T (p.Arg231Trp)	FAXC (R178W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392189	NM_032511.4(FAXC):c.778T>C (p.Tyr260His)	FAXC (Y260H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371124	NM_032511.4(FAXC):c.1012G>C (p.Asp338His)	FAXC (D285H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369672	NM_032511.4(FAXC):c.325A>G (p.Asn109Asp)	FAXC (N56D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2343996	NM_032511.4(FAXC):c.1070C>T (p.Pro357Leu)	FAXC (P236L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310537	NM_032511.4(FAXC):c.269A>G (p.Lys90Arg)	FAXC (K37R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2307981	NM_032511.4(FAXC):c.1031A>G (p.Glu344Gly)	FAXC (E223G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298616	NM_032511.4(FAXC):c.851A>G (p.Lys284Arg)	FAXC (K163R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268411	NM_032511.4(FAXC):c.817C>T (p.Leu273Phe)	FAXC (L152F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266237	NM_032511.4(FAXC):c.731G>A (p.Arg244His)	FAXC (R191H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263075	NM_032511.4(FAXC):c.847C>T (p.Pro283Ser)	FAXC (P162S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255889	NM_032511.4(FAXC):c.711A>G (p.Ile237Met)	FAXC (I116M +2 more)	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 814852	GRCh37/hg19 6q16.1-16.2(chr6:99213721-99810520)x1	FAXC, FBXL4 +1 more	Copy number loss	not provided	GUncertain significance
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 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 161783	NM_032511.4(FAXC):c.892C>G (p.Gln298Glu)	FAXC (Q298E +2 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
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

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Links from Gene

Items: 50