GFOD1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 2296859	NM_018988.4(GFOD1):c.1166A>G (p.Tyr389Cys)	GFOD1 (Y389C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301023	NM_018988.4(GFOD1):c.1147C>T (p.Arg383Cys)	GFOD1 (R280C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233655	NM_018988.4(GFOD1):c.788C>T (p.Thr263Ile)	GFOD1 (T160I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207049	NM_018988.4(GFOD1):c.701C>G (p.Thr234Ser)	GFOD1 (T131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099467	NM_018988.4(GFOD1):c.619G>C (p.Asp207His)	GFOD1 (D104H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554201	NM_018988.4(GFOD1):c.577G>A (p.Val193Ile)	GFOD1 (V90I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099466	NM_018988.4(GFOD1):c.424G>A (p.Glu142Lys)	GFOD1 (E142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099465	NM_018988.4(GFOD1):c.406G>A (p.Glu136Lys)	GFOD1 (E136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222817	NM_018988.4(GFOD1):c.308G>A (p.Arg103His)	GFOD1 (R103H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099464	NM_018988.4(GFOD1):c.161G>A (p.Arg54His)	GFOD1, GFOD1-AS1 (R54H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369336	NM_018988.4(GFOD1):c.80C>A (p.Ala27Glu)	GFOD1 (A27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527224	GRCh37/hg19 6p24.1-23(chr6:13189507-13502033)	GFOD1, PHACTR1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1511468	NC_000006.11:g.(?_12290863)_(13612097_?)dup	EDN1, SIRT5 +3 more	Duplication	not provided	GUncertain significance
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	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 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 40