TYSND1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance
Select item 3330435	NM_173555.4(TYSND1):c.1685C>T (p.Pro562Leu)	TYSND1 (P562L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513343	NM_173555.4(TYSND1):c.1682C>T (p.Ala561Val)	TYSND1 (A561V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3185279	NM_173555.4(TYSND1):c.1667G>A (p.Arg556Gln)	TYSND1 (R556Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2358936	NM_173555.4(TYSND1):c.1666C>T (p.Arg556Trp)	TYSND1 (R556W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513518	NM_173555.4(TYSND1):c.1638G>C (p.Glu546Asp)	TYSND1 (E546D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2380073	NM_173555.4(TYSND1):c.1616G>A (p.Arg539His)	TYSND1 (R539H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2310935	NM_173555.4(TYSND1):c.1612C>T (p.Leu538Phe)	TYSND1 (L538F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3185278	NM_173555.4(TYSND1):c.1559C>T (p.Thr520Met)	TYSND1 (T520M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2280651	NM_173555.4(TYSND1):c.1511A>G (p.Asn504Ser)	TYSND1 (N504S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3185277	NM_173555.4(TYSND1):c.1505G>A (p.Arg502Gln)	TYSND1 (R502Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3185276	NM_173555.4(TYSND1):c.1502C>G (p.Thr501Ser)	TYSND1 (H395Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185275	NM_173555.4(TYSND1):c.1466A>C (p.His489Pro)	TYSND1 (H489P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464584	NM_173555.4(TYSND1):c.1433G>C (p.Ser478Thr)	TYSND1 (S478T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185274	NM_173555.4(TYSND1):c.1429C>T (p.His477Tyr)	TYSND1 (H477Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330434	NM_173555.4(TYSND1):c.1418C>T (p.Thr473Met)	TYSND1 (T473M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229897	NM_173555.4(TYSND1):c.1402G>A (p.Val468Ile)	TYSND1 (V468I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185273	NM_173555.4(TYSND1):c.1397C>T (p.Thr466Met)	TYSND1 (T466M)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2227766	NM_173555.4(TYSND1):c.1344C>G (p.Cys448Trp)	TYSND1 (C448W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551897	NM_173555.4(TYSND1):c.1316T>C (p.Val439Ala)	TYSND1 (V439A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256094	NM_173555.4(TYSND1):c.1271C>T (p.Pro424Leu)	TYSND1 (P424L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185272	NM_173555.4(TYSND1):c.1220A>G (p.Tyr407Cys)	TYSND1 (Y407C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250365	NM_173555.4(TYSND1):c.1214G>A (p.Cys405Tyr)	TYSND1 (C405Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398441	NM_173555.4(TYSND1):c.1184G>C (p.Gly395Ala)	TYSND1 (G395A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330441	NM_173555.4(TYSND1):c.1072T>C (p.Ser358Pro)	TYSND1 (S358P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539300	NM_173555.4(TYSND1):c.997G>T (p.Gly333Cys)	TYSND1 (G333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365851	NM_173555.4(TYSND1):c.996G>T (p.Trp332Cys)	TYSND1 (W332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320557	NM_173555.4(TYSND1):c.974C>T (p.Pro325Leu)	LOC130003994, TYSND1 (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228427	NM_173555.4(TYSND1):c.958C>G (p.Leu320Val)	LOC130003994, TYSND1 (L320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330438	NM_173555.4(TYSND1):c.947G>A (p.Ser316Asn)	LOC130003994, TYSND1 (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330436	NM_173555.4(TYSND1):c.933C>A (p.His311Gln)	LOC130003994, TYSND1 (H311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540217	NM_173555.4(TYSND1):c.924C>A (p.Asp308Glu)	LOC130003994, TYSND1 (D308E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185285	NM_173555.4(TYSND1):c.852T>G (p.Cys284Trp)	LOC130003994, TYSND1 (C284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479506	NM_173555.4(TYSND1):c.803C>T (p.Thr268Ile)	LOC130003994, TYSND1 (T268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403259	NM_173555.4(TYSND1):c.764C>T (p.Ala255Val)	LOC130003994, TYSND1 (A255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640551	NM_173555.4(TYSND1):c.642C>T (p.Pro214=)	TYSND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185284	NM_173555.4(TYSND1):c.632G>T (p.Gly211Val)	TYSND1 (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330440	NM_173555.4(TYSND1):c.556G>A (p.Ala186Thr)	TYSND1 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344153	NM_173555.4(TYSND1):c.526G>A (p.Ala176Thr)	TYSND1 (A176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238073	NM_173555.4(TYSND1):c.464C>T (p.Ala155Val)	TYSND1 (A155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330439	NM_173555.4(TYSND1):c.398A>G (p.Glu133Gly)	LOC130003996, TYSND1 (E133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294139	NM_173555.4(TYSND1):c.397G>A (p.Glu133Lys)	LOC130003996, TYSND1 (E133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185283	NM_173555.4(TYSND1):c.356C>G (p.Ala119Gly)	LOC130003996, TYSND1 (A119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291362	NM_173555.4(TYSND1):c.338T>G (p.Leu113Arg)	LOC130003996, TYSND1 (L113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774893	NM_173555.4(TYSND1):c.338T>C (p.Leu113Pro)	LOC130003996, TYSND1 (L113P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2290853	NM_173555.4(TYSND1):c.322C>T (p.Pro108Ser)	LOC130003996, TYSND1 (P108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185282	NM_173555.4(TYSND1):c.320C>A (p.Thr107Lys)	LOC130003996, TYSND1 (T107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185281	NM_173555.4(TYSND1):c.317G>A (p.Cys106Tyr)	LOC130003996, TYSND1 (C106Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559874	NM_173555.4(TYSND1):c.311G>A (p.Gly104Glu)	LOC130003996, TYSND1 (G104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185280	NM_173555.4(TYSND1):c.263C>T (p.Ala88Val)	LOC130003996, TYSND1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492470	NM_173555.4(TYSND1):c.74G>C (p.Gly25Ala)	TYSND1 (G25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303885	NM_173555.4(TYSND1):c.40C>G (p.Gln14Glu)	TYSND1 (Q14E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67