ClinVar for Gene (Select 100038246) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3326444	NM_005521.4(TLX1):c.208G>A (p.Gly70Arg)	TLX1, TLX1NB (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326443	NM_005521.4(TLX1):c.400G>A (p.Val134Met)	TLX1, TLX1NB (V134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178077	NM_005521.4(TLX1):c.971C>T (p.Ser324Leu)	TLX1, TLX1NB (S324L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3178076	NM_005521.4(TLX1):c.364G>A (p.Gly122Ser)	TLX1, TLX1NB (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178075	NM_005521.4(TLX1):c.193G>T (p.Ala65Ser)	TLX1, TLX1NB (A65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178074	NM_005521.4(TLX1):c.133T>C (p.Tyr45His)	TLX1, TLX1NB (Y45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2640768	NR_130722.1(TLX1NB):n.1619del	TLX1NB	Deletion (non-coding transcript 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 2544624	NM_005521.4(TLX1):c.901T>C (p.Ser301Pro)	TLX1, TLX1NB (S301P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2529324	NM_005521.4(TLX1):c.986G>T (p.Cys329Phe)	TLX1, TLX1NB (C329F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464984	NM_005521.4(TLX1):c.335G>C (p.Gly112Ala)	TLX1, TLX1NB (G112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 2405694	NM_005521.4(TLX1):c.196A>C (p.Thr66Pro)	TLX1, TLX1NB (T66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383636	NM_005521.4(TLX1):c.355A>G (p.Ser119Gly)	TLX1, TLX1NB (S119G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367889	NM_005521.4(TLX1):c.434C>T (p.Ala145Val)	TLX1, TLX1NB (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365396	NM_005521.4(TLX1):c.437A>C (p.His146Pro)	TLX1, TLX1NB (H146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364592	NM_005521.4(TLX1):c.254C>G (p.Pro85Arg)	TLX1, TLX1NB (P85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359062	NM_005521.4(TLX1):c.611C>T (p.Pro204Leu)	TLX1, TLX1NB (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354065	NM_005521.4(TLX1):c.337C>T (p.Pro113Ser)	TLX1, TLX1NB (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330240	NM_005521.4(TLX1):c.139C>A (p.Leu47Ile)	TLX1, TLX1NB (L47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257125	NM_005521.4(TLX1):c.797C>T (p.Ala266Val)	TLX1, TLX1NB (A266V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2230904	NM_005521.4(TLX1):c.190G>A (p.Ala64Thr)	TLX1, TLX1NB (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211293	NM_005521.4(TLX1):c.22C>T (p.His8Tyr)	TLX1, TLX1NB (H8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205480	NM_005521.4(TLX1):c.236C>T (p.Pro79Leu)	TLX1, TLX1NB (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
Select item 590885	Single allele	BTRC, DPCD +5 more	Duplication	Ectrodactyly	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 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 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
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 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59708	GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3	BTRC, DPCD +42 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 42