ClinVar for Gene (Select 8723) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167321	NM_003794.4(SNX4):c.68C>G (p.Pro23Arg)	LOC129937448, SNX4 (P23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167320	NM_003794.4(SNX4):c.665A>G (p.Asp222Gly)	SNX4 (D222G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167319	NM_003794.4(SNX4):c.649G>T (p.Asp217Tyr)	SNX4 (D217Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167318	NM_003794.4(SNX4):c.519A>C (p.Arg173Ser)	SNX4 (R173S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167317	NM_003794.4(SNX4):c.340A>G (p.Arg114Gly)	SNX4 (R114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167315	NM_003794.4(SNX4):c.1213G>A (p.Ala405Thr)	SNX4 (A405T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167314	NM_003794.4(SNX4):c.1208C>T (p.Ala403Val)	SNX4 (A403V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 3062732	GRCh37/hg19 3q21.2(chr3:124971802-125243742)x3	SNX4, ZNF148	Copy number gain	not specified	GUncertain significance
Select item 2596681	NM_003794.4(SNX4):c.1247G>A (p.Arg416Gln)	SNX4 (R416Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590530	NM_003794.4(SNX4):c.56C>G (p.Pro19Arg)	LOC129937448, SNX4 (P19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589826	NM_003794.4(SNX4):c.65C>T (p.Ser22Phe)	LOC129937448, SNX4 (S22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557978	NM_003794.4(SNX4):c.1344C>G (p.Ser448Arg)	SNX4 (S448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512492	NM_003794.4(SNX4):c.209G>A (p.Gly70Glu)	SNX4 (G70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477728	NM_003794.4(SNX4):c.310T>G (p.Trp104Gly)	SNX4 (W104G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2412246	NM_003794.4(SNX4):c.878T>G (p.Ile293Ser)	SNX4 (I293S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408709	NM_003794.4(SNX4):c.673C>T (p.His225Tyr)	SNX4 (H225Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405566	NM_003794.4(SNX4):c.34C>T (p.Leu12Phe)	LOC129937448, SNX4 (L12F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387983	NM_003794.4(SNX4):c.133G>A (p.Val45Ile)	SNX4 (V45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377308	NM_003794.4(SNX4):c.935A>G (p.Glu312Gly)	SNX4 (E312G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331679	NM_003794.4(SNX4):c.112G>A (p.Ala38Thr)	SNX4 (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240733	NM_003794.4(SNX4):c.38A>G (p.Gln13Arg)	LOC129937448, SNX4 (Q13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240732	NM_003794.4(SNX4):c.19G>T (p.Asp7Tyr)	LOC129937448, SNX4 (D7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208727	NM_003794.4(SNX4):c.848T>C (p.Met283Thr)	SNX4 (M283T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204131	NM_003794.4(SNX4):c.1100C>T (p.Thr367Ile)	SNX4 (T367I)	Single nucleotide variant (missense variant +1 more)	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 1704652	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3	ALDH1L1, KLF15 +5 more	Copy number gain	Chromosome 16 trisomy	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1341148	GRCh37/hg19 3q21.2(chr3:125169451-125401510)x1	OSBPL11, SNX4	Copy number loss	not provided	GUncertain significance
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 685939	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442544	GRCh37/hg19 3q21.2-21.3(chr3:124990032-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442219	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126087100)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
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	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47