96764[Gene ID] - 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

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Items: 98