ClinVar for Gene (Select 84951) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327832	NM_032865.6(TNS4):c.316A>T (p.Asn106Tyr)	TNS4 (N106Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327831	NM_032865.6(TNS4):c.1747C>T (p.His583Tyr)	TNS4 (H583Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327830	NM_032865.6(TNS4):c.1502G>A (p.Gly501Asp)	TNS4 (G501D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327829	NM_032865.6(TNS4):c.404T>C (p.Met135Thr)	TNS4 (M135T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3327828	NM_032865.6(TNS4):c.545G>C (p.Gly182Ala)	TNS4 (G182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3180887	NM_032865.6(TNS4):c.800G>A (p.Arg267Gln)	TNS4 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180886	NM_032865.6(TNS4):c.746C>T (p.Pro249Leu)	TNS4 (P249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180885	NM_032865.6(TNS4):c.539G>A (p.Arg180His)	TNS4 (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180884	NM_032865.6(TNS4):c.443T>A (p.Ile148Lys)	TNS4 (I148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180883	NM_032865.6(TNS4):c.331G>C (p.Glu111Gln)	TNS4 (E111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180882	NM_032865.6(TNS4):c.259G>C (p.Ala87Pro)	TNS4 (A87P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180881	NM_032865.6(TNS4):c.233G>C (p.Cys78Ser)	TNS4 (C78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180880	NM_032865.6(TNS4):c.1981T>A (p.Trp661Arg)	TNS4 (W661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180879	NM_032865.6(TNS4):c.191G>A (p.Gly64Asp)	TNS4 (G64D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180878	NM_032865.6(TNS4):c.1687G>T (p.Asp563Tyr)	LOC126862556, TNS4 (D563Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180877	NM_032865.6(TNS4):c.1682G>A (p.Gly561Asp)	LOC126862556, TNS4 (G561D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180876	NM_032865.6(TNS4):c.152A>G (p.Gln51Arg)	TNS4 (Q51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180875	NM_032865.6(TNS4):c.1450G>A (p.Gly484Ser)	TNS4 (G484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180874	NM_032865.6(TNS4):c.1294G>A (p.Ala432Thr)	TNS4 (A432T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180873	NM_032865.6(TNS4):c.1172C>A (p.Thr391Asn)	TNS4 (T391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180872	NM_032865.6(TNS4):c.1034C>G (p.Pro345Arg)	TNS4 (P345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684849	GRCh37/hg19 17q21.1-21.2(chr17:38390996-38689619)x3	CDC6, GJD3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2621911	NM_032865.6(TNS4):c.548G>C (p.Gly183Ala)	TNS4 (G183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555208	NM_032865.6(TNS4):c.685C>T (p.Pro229Ser)	TNS4 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552257	NM_032865.6(TNS4):c.1147C>T (p.Pro383Ser)	TNS4 (P383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550248	NM_032865.6(TNS4):c.1294G>T (p.Ala432Ser)	TNS4 (A432S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547802	NM_032865.6(TNS4):c.2069C>T (p.Ala690Val)	TNS4 (A690V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478615	NM_032865.6(TNS4):c.271C>T (p.Pro91Ser)	TNS4 (P91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474130	NM_032865.6(TNS4):c.1320G>T (p.Lys440Asn)	TNS4 (K440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470326	NM_032865.6(TNS4):c.1976G>A (p.Arg659Gln)	TNS4 (R659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460998	NM_032865.6(TNS4):c.242C>T (p.Pro81Leu)	TNS4 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457792	NM_032865.6(TNS4):c.529G>A (p.Gly177Ser)	TNS4 (G177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454304	NM_032865.6(TNS4):c.722C>T (p.Ser241Leu)	TNS4 (S241L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411291	NM_032865.6(TNS4):c.1789G>A (p.Gly597Arg)	TNS4 (G597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409985	NM_032865.6(TNS4):c.134C>T (p.Thr45Met)	TNS4 (T45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397105	NM_032865.6(TNS4):c.1391G>A (p.Arg464Lys)	TNS4 (R464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384565	NM_032865.6(TNS4):c.466G>A (p.Ala156Thr)	TNS4 (A156T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376177	NM_032865.6(TNS4):c.1334C>T (p.Thr445Ile)	TNS4 (T445I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375067	NM_032865.6(TNS4):c.1847C>T (p.Thr616Met)	TNS4 (T616M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345234	NM_032865.6(TNS4):c.1526G>A (p.Arg509Gln)	TNS4 (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344248	NM_032865.6(TNS4):c.73A>G (p.Arg25Gly)	TNS4 (R25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338717	NM_032865.6(TNS4):c.440A>C (p.Asp147Ala)	TNS4 (D147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311361	NM_032865.6(TNS4):c.2003C>T (p.Ser668Phe)	TNS4 (S668F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306051	NM_032865.6(TNS4):c.428C>T (p.Ser143Phe)	TNS4 (S143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301711	NM_032865.6(TNS4):c.293T>C (p.Ile98Thr)	TNS4 (I98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269186	NM_032865.6(TNS4):c.265G>A (p.Gly89Arg)	TNS4 (G89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266344	NM_032865.6(TNS4):c.1778A>G (p.Glu593Gly)	TNS4 (E593G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264526	NM_032865.6(TNS4):c.628G>C (p.Gly210Arg)	TNS4 (G210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255513	NM_032865.6(TNS4):c.1526G>C (p.Arg509Pro)	TNS4 (R509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225677	NM_032865.6(TNS4):c.2032C>G (p.Gln678Glu)	TNS4 (Q678E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219195	NM_032865.6(TNS4):c.1921C>T (p.Arg641Trp)	TNS4 (R641W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218254	NM_032865.6(TNS4):c.1612G>A (p.Val538Met)	TNS4 (V538M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214559	NM_032865.6(TNS4):c.1801G>A (p.Val601Met)	TNS4 (V601M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773751	NM_032865.6(TNS4):c.1135G>A (p.Gly379Ser)	TNS4 (G379S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747380	NM_032865.6(TNS4):c.1739C>T (p.Ala580Val)	LOC126862556, TNS4 (A580V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 443255	GRCh37/hg19 17q21.2(chr17:38543535-38785943)x3	CCR7, IGFBP4 +3 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63