ClinVar for Gene (Select 503582) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310574	NM_001012659.2(ARGFX):c.69G>A (p.Met23Ile)	ARGFX (M23I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310563	NM_001012659.2(ARGFX):c.877G>A (p.Glu293Lys)	ARGFX (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310552	NM_001012659.2(ARGFX):c.917C>T (p.Thr306Ile)	ARGFX (T306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128451	NM_001012659.2(ARGFX):c.802C>T (p.Leu268Phe)	ARGFX (L268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128450	NM_001012659.2(ARGFX):c.72G>C (p.Lys24Asn)	ARGFX (K24N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128449	NM_001012659.2(ARGFX):c.491G>A (p.Ser164Asn)	ARGFX (S164N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128448	NM_001012659.2(ARGFX):c.470C>T (p.Thr157Ile)	ARGFX (T157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128446	NM_001012659.2(ARGFX):c.385C>T (p.Arg129Trp)	ARGFX (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128445	NM_001012659.2(ARGFX):c.341G>C (p.Arg114Thr)	ARGFX (R114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128444	NM_001012659.2(ARGFX):c.332T>C (p.Leu111Pro)	ARGFX (L111P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2558735	NM_001012659.2(ARGFX):c.325G>C (p.Glu109Gln)	ARGFX (E109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548515	NM_001012659.2(ARGFX):c.389G>A (p.Arg130Gln)	ARGFX (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546465	NM_001012659.2(ARGFX):c.847A>C (p.Thr283Pro)	ARGFX (T283P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524505	NM_001012659.2(ARGFX):c.346G>A (p.Asp116Asn)	ARGFX (D116N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470580	NM_001012659.2(ARGFX):c.100C>T (p.Pro34Ser)	ARGFX (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371680	NM_001012659.2(ARGFX):c.245G>A (p.Arg82His)	ARGFX (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349379	NM_001012659.2(ARGFX):c.817G>A (p.Gly273Ser)	ARGFX (G273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330121	NM_001012659.2(ARGFX):c.684C>G (p.Phe228Leu)	ARGFX (F228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318987	NM_001012659.2(ARGFX):c.403A>C (p.Lys135Gln)	ARGFX (K135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317524	NM_001012659.2(ARGFX):c.943C>A (p.Leu315Ile)	ARGFX (L315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298243	NM_001012659.2(ARGFX):c.872C>G (p.Ala291Gly)	ARGFX (A291G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278722	NM_001012659.2(ARGFX):c.445C>T (p.Leu149Phe)	ARGFX (L149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219898	NM_001012659.2(ARGFX):c.301A>G (p.Met101Val)	ARGFX (M101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	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 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 39