11693[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 2297048	NM_182539.4(TCTE1):c.1433G>A (p.Arg478His)	TCTE1 (R478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219405	NM_182539.4(TCTE1):c.1387G>A (p.Glu463Lys)	TCTE1 (E463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214196	NM_182539.4(TCTE1):c.1291G>A (p.Gly431Arg)	TCTE1 (G431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175370	NM_182539.4(TCTE1):c.1267A>T (p.Ile423Phe)	TCTE1 (I423F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325074	NM_182539.4(TCTE1):c.1262C>A (p.Thr421Asn)	TCTE1 (T421N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391187	NM_182539.4(TCTE1):c.1259T>G (p.Leu420Arg)	TCTE1 (L420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382075	NM_182539.4(TCTE1):c.1181C>T (p.Thr394Met)	TCTE1 (T394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325073	NM_182539.4(TCTE1):c.1174C>T (p.Leu392Phe)	TCTE1 (L392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332895	NM_182539.4(TCTE1):c.1154C>G (p.Ala385Gly)	TCTE1 (A385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485965	NM_182539.4(TCTE1):c.1141G>A (p.Ala381Thr)	TCTE1 (A381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175367	NM_182539.4(TCTE1):c.1052C>A (p.Ala351Asp)	TCTE1 (A351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175376	NM_182539.4(TCTE1):c.937G>C (p.Asp313His)	TCTE1 (D313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043501	NM_182539.4(TCTE1):c.928G>A (p.Glu310Lys)	TCTE1 (E310K)	Single nucleotide variant (missense variant)	TCTE1-related disorder	GLikely benign
Select item 2344843	NM_182539.4(TCTE1):c.920C>A (p.Pro307Gln)	TCTE1 (P307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507944	NM_182539.4(TCTE1):c.772T>G (p.Trp258Gly)	TCTE1 (W258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175375	NM_182539.4(TCTE1):c.757G>A (p.Gly253Ser)	TCTE1 (G253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486114	NM_182539.4(TCTE1):c.671C>T (p.Thr224Ile)	TCTE1 (T224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298521	NM_182539.4(TCTE1):c.652G>A (p.Gly218Arg)	TCTE1 (G218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341687	NM_182539.4(TCTE1):c.623C>T (p.Pro208Leu)	TCTE1 (P208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466423	NM_182539.4(TCTE1):c.620G>A (p.Arg207Gln)	TCTE1 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404615	NM_182539.4(TCTE1):c.553C>G (p.Arg185Gly)	TCTE1 (R185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351926	NM_182539.4(TCTE1):c.553C>T (p.Arg185Trp)	TCTE1 (R185W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055345	NM_182539.4(TCTE1):c.547C>T (p.Leu183Phe)	TCTE1 (L183F)	Single nucleotide variant (missense variant)	TCTE1-related disorder	GLikely benign
Select item 3175374	NM_182539.4(TCTE1):c.530T>A (p.Ile177Asn)	TCTE1 (I177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618879	NM_182539.4(TCTE1):c.491T>C (p.Leu164Pro)	TCTE1 (L164P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226900	NM_182539.4(TCTE1):c.473G>A (p.Arg158Gln)	TCTE1 (R158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531783	NM_182539.4(TCTE1):c.461T>C (p.Met154Thr)	TCTE1 (M154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175373	NM_182539.4(TCTE1):c.398G>A (p.Arg133His)	TCTE1 (R133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347785	NM_182539.4(TCTE1):c.398G>C (p.Arg133Pro)	TCTE1 (R133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485143	NM_182539.4(TCTE1):c.389A>G (p.Tyr130Cys)	TCTE1 (Y130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387436	NM_182539.4(TCTE1):c.373A>G (p.Ile125Val)	TCTE1 (I125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387417	NM_182539.4(TCTE1):c.272T>C (p.Phe91Ser)	TCTE1 (F91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212213	NM_182539.4(TCTE1):c.195T>G (p.Ile65Met)	TCTE1 (I65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325072	NM_182539.4(TCTE1):c.185G>A (p.Arg62His)	TCTE1 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243216	NM_182539.4(TCTE1):c.185G>T (p.Arg62Leu)	TCTE1 (R62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216775	NM_182539.4(TCTE1):c.184C>T (p.Arg62Cys)	TCTE1 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175372	NM_182539.4(TCTE1):c.179G>A (p.Arg60Gln)	TCTE1 (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410527	NM_182539.4(TCTE1):c.175C>T (p.Arg59Cys)	TCTE1 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175368	NM_182539.4(TCTE1):c.116A>G (p.Lys39Arg)	TCTE1 (K39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371711	NM_182539.4(TCTE1):c.109C>T (p.Leu37Phe)	TCTE1 (L37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175371	NM_182539.4(TCTE1):c.13G>A (p.Val5Ile)	TCTE1 (V5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 52