ClinVar for Gene (Select 23180) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313893	NM_015150.2(RFTN1):c.1724T>C (p.Val575Ala)	OXNAD1, RFTN1 (V575A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3313892	NM_015150.2(RFTN1):c.115C>T (p.Arg39Cys)	RFTN1 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3153430	NM_015150.2(RFTN1):c.877C>T (p.Arg293Trp)	RFTN1 (R293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153429	NM_015150.2(RFTN1):c.55A>G (p.Ile19Val)	RFTN1 (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153428	NM_015150.2(RFTN1):c.396A>C (p.Leu132Phe)	RFTN1 (L132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685071	GRCh37/hg19 3p25.1(chr3:16320205-16399521)x1	OXNAD1, RFTN1	Copy number loss	not provided	GUncertain significance
Select item 2653608	NM_015150.2(RFTN1):c.699C>T (p.Leu233=)	RFTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653607	NM_015150.2(RFTN1):c.1233C>T (p.Pro411=)	OXNAD1, RFTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653606	NM_015150.2(RFTN1):c.1566T>C (p.Pro522=)	OXNAD1, RFTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2597498	NM_015150.2(RFTN1):c.1003G>A (p.Ala335Thr)	RFTN1 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593414	NM_015150.2(RFTN1):c.213G>C (p.Glu71Asp)	RFTN1 (E71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591202	NM_015150.2(RFTN1):c.1459A>G (p.Lys487Glu)	OXNAD1, RFTN1 (K487E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560093	NM_015150.2(RFTN1):c.1352G>A (p.Arg451Lys)	OXNAD1, RFTN1 (R451K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554108	NM_015150.2(RFTN1):c.792C>A (p.Asn264Lys)	RFTN1 (N264K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552992	NM_015150.2(RFTN1):c.1390G>A (p.Gly464Ser)	OXNAD1, RFTN1 (G464S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543432	NM_015150.2(RFTN1):c.1524G>A (p.Met508Ile)	OXNAD1, RFTN1 (M508I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524529	NM_015150.2(RFTN1):c.43C>T (p.Arg15Trp)	RFTN1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493587	NM_015150.2(RFTN1):c.946G>A (p.Ala316Thr)	RFTN1 (A316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459577	NM_015150.2(RFTN1):c.1435A>G (p.Lys479Glu)	OXNAD1, RFTN1 (K479E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408593	NM_015150.2(RFTN1):c.694C>G (p.Pro232Ala)	RFTN1 (P232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397413	NM_015150.2(RFTN1):c.1721C>T (p.Thr574Met)	OXNAD1, RFTN1 (T574M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376194	NM_015150.2(RFTN1):c.712A>C (p.Ser238Arg)	RFTN1 (S238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368282	NM_015150.2(RFTN1):c.592G>A (p.Ala198Thr)	RFTN1 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355897	NM_015150.2(RFTN1):c.1730A>G (p.Glu577Gly)	OXNAD1, RFTN1 (E577G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355896	NM_015150.2(RFTN1):c.1457C>A (p.Ser486Tyr)	OXNAD1, RFTN1 (S486Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325773	NM_015150.2(RFTN1):c.724G>A (p.Gly242Arg)	RFTN1 (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317089	NM_015150.2(RFTN1):c.23T>C (p.Leu8Ser)	RFTN1 (L8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298528	NM_015150.2(RFTN1):c.1355A>G (p.Glu452Gly)	OXNAD1, RFTN1 (E452G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270630	NM_015150.2(RFTN1):c.1517A>G (p.Glu506Gly)	OXNAD1, RFTN1 (E506G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232889	NM_015150.2(RFTN1):c.878G>T (p.Arg293Leu)	RFTN1 (R293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230127	NM_015150.2(RFTN1):c.736G>C (p.Gly246Arg)	RFTN1 (G246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216443	NM_015150.2(RFTN1):c.937G>A (p.Gly313Ser)	RFTN1 (G313S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208271	NM_015150.2(RFTN1):c.788G>A (p.Ser263Asn)	RFTN1 (S263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 688733	GRCh37/hg19 3p25.1-24.3(chr3:15752529-16524171)x3	ANKRD28, DPH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 57