THNSL2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3325917	NM_018271.5(THNSL2):c.38T>C (p.Val13Ala)	THNSL2 (V13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325922	NM_018271.5(THNSL2):c.79G>A (p.Gly27Arg)	THNSL2 (G27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290195	NM_018271.5(THNSL2):c.94C>T (p.Pro32Ser)	THNSL2 (P32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325916	NM_018271.5(THNSL2):c.102G>T (p.Glu34Asp)	THNSL2 (E34D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545312	NM_018271.5(THNSL2):c.149C>T (p.Ser50Phe)	THNSL2 (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280018	NM_018271.5(THNSL2):c.179C>A (p.Ala60Asp)	THNSL2 (A60D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463024	NM_018271.5(THNSL2):c.236G>A (p.Arg79Gln)	THNSL2 (R79Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325914	NM_018271.5(THNSL2):c.239C>A (p.Ala80Asp)	THNSL2 (A80D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177074	NM_018271.5(THNSL2):c.282G>C (p.Arg94Ser)	THNSL2 (R94S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325915	NM_018271.5(THNSL2):c.361A>G (p.Thr121Ala)	THNSL2 (T121A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2394937	NM_018271.5(THNSL2):c.467C>T (p.Ala156Val)	THNSL2 (A156V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479138	NM_018271.5(THNSL2):c.538A>G (p.Thr180Ala)	THNSL2 (T180A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325920	NM_018271.5(THNSL2):c.560A>T (p.His187Leu)	THNSL2 (H29L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462828	NM_018271.5(THNSL2):c.625G>A (p.Val209Met)	THNSL2 (V209M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391834	NM_018271.5(THNSL2):c.739G>A (p.Asp247Asn)	THNSL2 (D247N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325921	NM_018271.5(THNSL2):c.799G>T (p.Ala267Ser)	THNSL2 (A109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325919	NM_018271.5(THNSL2):c.868A>G (p.Ile290Val)	THNSL2 (I290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494300	NM_018271.5(THNSL2):c.892G>A (p.Gly298Arg)	THNSL2 (G298R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598996	NM_018271.5(THNSL2):c.971G>T (p.Arg324Met)	THNSL2 (R324M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331567	NM_018271.5(THNSL2):c.1166T>C (p.Leu389Pro)	THNSL2 (L389P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177072	NM_018271.5(THNSL2):c.1237C>T (p.Arg413Trp)	THNSL2 (P204L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3177071	NM_018271.5(THNSL2):c.1237C>G (p.Arg413Gly)	THNSL2 (P204R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494054	NM_018271.5(THNSL2):c.1273C>T (p.Pro425Ser)	THNSL2 (P425S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2260381	NM_018271.5(THNSL2):c.1280C>T (p.Ala427Val)	THNSL2 (A427V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2378994	NM_018271.5(THNSL2):c.1322T>A (p.Ile441Asn)	THNSL2 (I441N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325918	NM_018271.5(THNSL2):c.1324G>A (p.Val442Ile)	THNSL2 (V442I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325913	NM_018271.5(THNSL2):c.1327G>A (p.Ala443Thr)	THNSL2 (A443T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3177073	NM_018271.5(THNSL2):c.1364G>A (p.Arg455Gln)	THNSL2 (R455Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325912	NM_018271.5(THNSL2):c.1389G>A (p.Met463Ile)	THNSL2 (M463I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062514	GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1808125	GRCh37/hg19 2p11.2(chr2:88046609-89126291)x1	RPIA, SMYD1 +7 more	Copy number loss	not provided	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 1526862	GRCh37/hg19 2p11.2(chr2:88180842-89126291)	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1526851	GRCh37/hg19 2p11.2(chr2:88046608-89126291)	EIF2AK3, FABP1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	EIF2AK3, FABP1 +8 more	Copy number loss	not provided	GPathogenic
Select item 814281	GRCh37/hg19 2p11.2(chr2:88403403-89129064)x3	THNSL2, FOXI3 +5 more	Copy number gain	not provided	GUncertain significance
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 562600	GRCh37/hg19 2p11.2(chr2:88268212-88842463)x3	SMYD1, THNSL2 +4 more	Copy number gain	not provided	GLikely benign
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 442637	GRCh37/hg19 2p11.2(chr2:88046608-89129064)x1	EIF2AK3, FABP1 +7 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 48