ClinVar for Gene (Select 94081) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3160968	NM_022754.7(SFXN1):c.692T>C (p.Val231Ala)	SFXN1 (V231A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160967	NM_022754.7(SFXN1):c.242C>T (p.Pro81Leu)	SFXN1 (P81L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160966	NM_022754.7(SFXN1):c.240T>A (p.His80Gln)	SFXN1 (H80Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160965	NM_022754.7(SFXN1):c.224A>G (p.Tyr75Cys)	SFXN1 (Y75C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2616199	NM_022754.7(SFXN1):c.38A>G (p.Glu13Gly)	SFXN1 (E13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606190	NM_022754.7(SFXN1):c.415G>C (p.Asp139His)	SFXN1 (D139H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603001	NM_022754.7(SFXN1):c.656C>T (p.Ala219Val)	SFXN1 (A158V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557973	NM_022754.7(SFXN1):c.578T>C (p.Ile193Thr)	SFXN1 (I193T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532860	NM_022754.7(SFXN1):c.764C>T (p.Ala255Val)	SFXN1 (A194V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469345	NM_022754.7(SFXN1):c.653C>T (p.Ser218Leu)	SFXN1 (S157L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468350	NM_022754.7(SFXN1):c.229T>G (p.Ser77Ala)	SFXN1 (S77A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347425	NM_022754.7(SFXN1):c.898G>A (p.Ala300Thr)	SFXN1 (A239T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337026	NM_022754.7(SFXN1):c.829G>A (p.Val277Met)	SFXN1 (V277M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336030	NM_022754.7(SFXN1):c.364T>C (p.Trp122Arg)	SFXN1 (W61R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303084	NM_022754.7(SFXN1):c.472G>A (p.Ala158Thr)	SFXN1 (A97T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252760	NM_022754.7(SFXN1):c.565A>C (p.Asn189His)	SFXN1 (N128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227745	NM_022754.7(SFXN1):c.587T>C (p.Met196Thr)	SFXN1 (M196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207176	NM_022754.7(SFXN1):c.475G>A (p.Val159Ile)	SFXN1 (V159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 783451	NM_022754.7(SFXN1):c.77A>G (p.Asn26Ser)	SFXN1 (N26S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 734901	NM_022754.7(SFXN1):c.141G>A (p.Ala47=)	SFXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221449	GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3	CPEB4, DRD1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37