ClinVar for Gene (Select 3196) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326445	NM_016170.5(TLX2):c.7C>T (p.Pro3Ser)	TLX2 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178082	NM_016170.5(TLX2):c.775C>T (p.Leu259Phe)	TLX2 (L259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178081	NM_016170.5(TLX2):c.39C>A (p.His13Gln)	TLX2 (H13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178080	NM_016170.5(TLX2):c.343G>A (p.Gly115Arg)	LOC129934138, TLX2 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178079	NM_016170.5(TLX2):c.200C>T (p.Ala67Val)	TLX2 (A67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178078	NM_016170.5(TLX2):c.100G>C (p.Gly34Arg)	TLX2 (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2607131	NM_016170.5(TLX2):c.65A>G (p.Asp22Gly)	TLX2 (D22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591501	NM_016170.5(TLX2):c.287G>C (p.Gly96Ala)	LOC129934138, TLX2 (G96A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507510	NM_016170.5(TLX2):c.58G>C (p.Gly20Arg)	TLX2 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2459626	NM_016170.5(TLX2):c.287G>T (p.Gly96Val)	LOC129934138, TLX2 (G96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2396208	NM_016170.5(TLX2):c.398C>T (p.Thr133Met)	TLX2 (T133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372388	NM_016170.5(TLX2):c.583C>G (p.Arg195Gly)	TLX2 (R195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313350	NM_016170.5(TLX2):c.133G>A (p.Gly45Arg)	TLX2 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307751	NM_016170.5(TLX2):c.697C>T (p.His233Tyr)	TLX2 (H233Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287417	NM_016170.5(TLX2):c.98G>A (p.Gly33Asp)	TLX2 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248971	NM_016170.5(TLX2):c.397A>T (p.Thr133Ser)	TLX2 (T133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 783977	NM_016170.5(TLX2):c.249C>G (p.Val83=)	TLX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716444	NM_016170.5(TLX2):c.678C>T (p.Arg226=)	TLX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35