"GeneDx"[submitter] AND "TSR2"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 1269390	NM_058163.3(TSR2):c.82-58C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248039	NM_058163.3(TSR2):c.*45A>G	TSR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 95076	NM_004463.3(FGD1):c.*36C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1309364	NM_004463.3(FGD1):c.2872C>T (p.Arg958Ter)	FGD1, TSR2 (R958*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2504799	NM_004463.3(FGD1):c.2846C>T (p.Ala949Val)	FGD1, TSR2 (A949V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363827	NM_004463.3(FGD1):c.2834T>G (p.Leu945Ter)	FGD1, TSR2 (L945*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2506596	NM_004463.3(FGD1):c.2794_2797del (p.Ser932fs)	FGD1, TSR2 (S932fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1314510	NM_004463.3(FGD1):c.2771C>T (p.Thr924Met)	FGD1, TSR2 (T924M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371680	NM_004463.3(FGD1):c.2762G>C (p.Arg921Pro)	FGD1, TSR2 (R921P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224655	NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter)	FGD1, TSR2 (R921*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1189714	NM_004463.3(FGD1):c.2734T>C (p.Trp912Arg)	FGD1, TSR2 (W912R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426885	NM_004463.3(FGD1):c.2719G>T (p.Glu907Ter)	FGD1, TSR2 (E907*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3370684	NM_004463.3(FGD1):c.2714_2717del (p.Thr905fs)	FGD1, TSR2 (T905fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1311147	NM_004463.3(FGD1):c.2693G>A (p.Ser898Asn)	TSR2, FGD1 (S898N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308282	NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr)	FGD1, TSR2 (I871T)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome +1 more	GUncertain significance
Select item 1342057	NM_004463.3(FGD1):c.2555T>C (p.Val852Ala)	FGD1, TSR2 (V852A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700955	NM_004463.3(FGD1):c.2530G>A (p.Val844Met)	FGD1, TSR2 (V844M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253410	GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3	ZXDB, PHF8 +37 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 37