ClinVar for Gene (Select 219743) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3330440	NM_173555.4(TYSND1):c.556G>A (p.Ala186Thr)	TYSND1 (A186T)	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 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 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 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 3185285	NM_173555.4(TYSND1):c.852T>G (p.Cys284Trp)	LOC130003994, TYSND1 (C284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185283	NM_173555.4(TYSND1):c.356C>G (p.Ala119Gly)	LOC130003996, TYSND1 (A119G)	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 3185280	NM_173555.4(TYSND1):c.263C>T (p.Ala88Val)	LOC130003996, TYSND1 (A88V)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640551	NM_173555.4(TYSND1):c.642C>T (p.Pro214=)	TYSND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2559874	NM_173555.4(TYSND1):c.311G>A (p.Gly104Glu)	LOC130003996, TYSND1 (G104E)	Single nucleotide variant (missense variant)	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 2540217	NM_173555.4(TYSND1):c.924C>A (p.Asp308Glu)	LOC130003994, TYSND1 (D308E)	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 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 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 2492470	NM_173555.4(TYSND1):c.74G>C (p.Gly25Ala)	TYSND1 (G25A)	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 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 2403259	NM_173555.4(TYSND1):c.764C>T (p.Ala255Val)	LOC130003994, TYSND1 (A255V)	Single nucleotide variant (missense variant)	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 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 2365851	NM_173555.4(TYSND1):c.996G>T (p.Trp332Cys)	TYSND1 (W332C)	Single nucleotide variant (missense variant)	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 2344153	NM_173555.4(TYSND1):c.526G>A (p.Ala176Thr)	TYSND1 (A176T)	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 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 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 2294139	NM_173555.4(TYSND1):c.397G>A (p.Glu133Lys)	LOC130003996, TYSND1 (E133K)	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 2290853	NM_173555.4(TYSND1):c.322C>T (p.Pro108Ser)	LOC130003996, TYSND1 (P108S)	Single nucleotide variant (missense variant)	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 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 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 2238073	NM_173555.4(TYSND1):c.464C>T (p.Ala155Val)	TYSND1 (A155V)	Single nucleotide variant (missense variant)	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 2228427	NM_173555.4(TYSND1):c.958C>G (p.Leu320Val)	LOC130003994, TYSND1 (L320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 774893	NM_173555.4(TYSND1):c.338T>C (p.Leu113Pro)	LOC130003996, TYSND1 (L113P)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 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 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 67