TGS1[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 154925	GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1	CERNA3, CHCHD7 +69 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 149469	GRCh38/hg38 8q12.1(chr8:55751116-55937248)x3	LOC116186928, LOC124174256 +29 more	Copy number gain	See cases	GLikely benign
Select item 2522312	NM_024831.8(TGS1):c.31G>C (p.Glu11Gln)	LOC130000400, TGS1 (E11Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3176809	NM_024831.8(TGS1):c.55C>G (p.Arg19Gly)	LOC130000400, TGS1 (R19G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2393935	NM_024831.8(TGS1):c.59A>T (p.Glu20Val)	LOC130000400, TGS1 (E20V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2410925	NM_024831.8(TGS1):c.114G>T (p.Leu38Phe)	TGS1 (L38F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176802	NM_024831.8(TGS1):c.155G>A (p.Gly52Asp)	TGS1 (G52D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3325770	NM_024831.8(TGS1):c.160A>T (p.Asn54Tyr)	TGS1 (N54Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390970	NM_024831.8(TGS1):c.196G>C (p.Gly66Arg)	TGS1 (G66R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 776600	NM_024831.8(TGS1):c.254G>A (p.Ser85Asn)	TGS1 (S85N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3325777	NM_024831.8(TGS1):c.282G>A (p.Met94Ile)	TGS1 (M94I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388504	NM_024831.8(TGS1):c.322G>C (p.Ala108Pro)	TGS1 (A15P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325773	NM_024831.8(TGS1):c.323C>A (p.Ala108Glu)	TGS1 (A15E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365051	NM_024831.8(TGS1):c.325C>T (p.His109Tyr)	TGS1 (H109Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776335	NM_024831.8(TGS1):c.367A>G (p.Lys123Glu)	TGS1 (K123E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2324191	NM_024831.8(TGS1):c.416A>C (p.Gln139Pro)	TGS1 (Q139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782749	NM_024831.8(TGS1):c.448G>A (p.Asp150Asn)	TGS1 (D57N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 785250	NM_024831.8(TGS1):c.478A>G (p.Ile160Val)	TGS1 (I160V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540157	NM_024831.8(TGS1):c.556A>C (p.Asn186His)	TGS1 (N93H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176810	NM_024831.8(TGS1):c.608A>G (p.Asn203Ser)	TGS1 (N110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176811	NM_024831.8(TGS1):c.649A>G (p.Lys217Glu)	TGS1 (K217E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373011	NM_024831.8(TGS1):c.656C>T (p.Pro219Leu)	TGS1 (P219L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658608	NM_024831.8(TGS1):c.666A>C (p.Ala222=)	TGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289650	NM_024831.8(TGS1):c.668T>G (p.Leu223Arg)	TGS1 (L130R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176812	NM_024831.8(TGS1):c.769G>T (p.Ala257Ser)	TGS1 (A164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389436	NM_024831.8(TGS1):c.775G>A (p.Gly259Ser)	TGS1 (G166S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325772	NM_024831.8(TGS1):c.785T>C (p.Phe262Ser)	TGS1 (F262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780752	NM_024831.8(TGS1):c.895C>T (p.Pro299Ser)	TGS1 (P206S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2538273	NM_024831.8(TGS1):c.943A>G (p.Ser315Gly)	TGS1 (S222G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325776	NM_024831.8(TGS1):c.970A>G (p.Ile324Val)	TGS1 (I324V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176813	NM_024831.8(TGS1):c.986A>G (p.Glu329Gly)	TGS1 (E236G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325775	NM_024831.8(TGS1):c.1010A>G (p.Asp337Gly)	TGS1 (D337G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176796	NM_024831.8(TGS1):c.1081G>T (p.Gly361Cys)	TGS1 (G268C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318265	NM_024831.8(TGS1):c.1081G>A (p.Gly361Ser)	TGS1 (G268S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594530	NM_024831.8(TGS1):c.1100A>G (p.Asn367Ser)	TGS1 (N367S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708487	NM_024831.8(TGS1):c.1131G>A (p.Ser377=)	TGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725079	NM_024831.8(TGS1):c.1180G>A (p.Gly394Arg)	TGS1 (G394R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725080	NM_024831.8(TGS1):c.1220C>G (p.Thr407Ser)	TGS1 (T314S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725081	NM_024831.8(TGS1):c.1304A>C (p.Asn435Thr)	TGS1 (N342T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3176797	NM_024831.8(TGS1):c.1317C>G (p.Asp439Glu)	TGS1 (D346E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176798	NM_024831.8(TGS1):c.1326C>G (p.Asp442Glu)	TGS1 (D349E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306083	NM_024831.8(TGS1):c.1336C>T (p.Leu446Phe)	TGS1 (L446F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3176799	NM_024831.8(TGS1):c.1370A>G (p.Tyr457Cys)	TGS1 (Y364C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223614	NM_024831.8(TGS1):c.1397G>T (p.Arg466Leu)	TGS1 (R466L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780753	NM_024831.8(TGS1):c.1401G>A (p.Gln467=)	TGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271722	NM_024831.8(TGS1):c.1440G>C (p.Lys480Asn)	TGS1 (K387N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325769	NM_024831.8(TGS1):c.1452G>A (p.Met484Ile)	TGS1 (M391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176801	NM_024831.8(TGS1):c.1471A>G (p.Lys491Glu)	TGS1 (K398E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234115	NM_024831.8(TGS1):c.1571A>G (p.Lys524Arg)	TGS1 (K431R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176803	NM_024831.8(TGS1):c.1573C>A (p.Pro525Thr)	TGS1 (P432T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176804	NM_024831.8(TGS1):c.1624G>A (p.Asp542Asn)	TGS1 (D542N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308357	NM_024831.8(TGS1):c.1627G>A (p.Ala543Thr)	TGS1 (A543T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518509	NM_024831.8(TGS1):c.1670A>G (p.Lys557Arg)	TGS1 (K557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410381	NM_024831.8(TGS1):c.1714A>G (p.Lys572Glu)	TGS1 (K572E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780754	NM_024831.8(TGS1):c.1726G>A (p.Val576Ile)	TGS1 (V483I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3176806	NM_024831.8(TGS1):c.1872C>G (p.Asn624Lys)	TGS1 (N624K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396586	NM_024831.8(TGS1):c.1896T>G (p.Asn632Lys)	TGS1 (N539K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325771	NM_024831.8(TGS1):c.1921G>A (p.Val641Ile)	TGS1 (V548I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219038	NM_024831.8(TGS1):c.1970G>A (p.Arg657His)	TGS1 (R564H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381399	NM_024831.8(TGS1):c.2060A>T (p.Gln687Leu)	TGS1 (Q594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215929	NM_024831.8(TGS1):c.2116A>G (p.Ile706Val)	TGS1 (I613V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227453	NM_024831.8(TGS1):c.2159T>C (p.Ile720Thr)	TGS1 (I627T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325774	NM_024831.8(TGS1):c.2174T>C (p.Ile725Thr)	TGS1 (I632T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341444	NM_024831.8(TGS1):c.2185C>T (p.Arg729Cys)	TGS1 (R636C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176807	NM_024831.8(TGS1):c.2211A>G (p.Ile737Met)	TGS1 (I644M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786560	NM_024831.8(TGS1):c.2365G>A (p.Glu789Lys)	TGS1 (E696K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 145241	GRCh38/hg38 8q12.1(chr8:55813087-55967049)x3	LOC116186928, LOC124174256 +26 more	Copy number gain	See cases	GBenign
Select item 2547569	NM_024831.8(TGS1):c.2435A>T (p.Asp812Val)	TGS1 (D719V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555467	NM_024831.8(TGS1):c.2530G>T (p.Asp844Tyr)	TGS1 (D751Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 979233	GRCh37/hg19 8q12.1(chr8:56550884-56875491)x3	TGS1, TMEM68 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563496	GRCh37/hg19 8q12.1(chr8:56288969-56854172)x3	XKR4, TGS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563467	GRCh37/hg19 8q12.1(chr8:56620114-56870065)x3	TMEM68, LYN +1 more	Copy number gain	not provided	GLikely benign
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253344	GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1	TGS1, PENK +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 98