ClinVar for Gene (Select 80705) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329567	NM_025244.4(TSGA10):c.1520A>T (p.Asp507Val)	TSGA10 (D507V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329566	NM_025244.4(TSGA10):c.490A>C (p.Asn164His)	TSGA10 (N164H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329565	NM_025244.4(TSGA10):c.495G>A (p.Met165Ile)	TSGA10 (M165I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183628	NM_025244.4(TSGA10):c.98G>A (p.Arg33His)	TSGA10 (R33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183626	NM_025244.4(TSGA10):c.8G>A (p.Arg3Gln)	TSGA10 (R3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183625	NM_025244.4(TSGA10):c.688C>T (p.Leu230Phe)	TSGA10 (L230F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183624	NM_025244.4(TSGA10):c.284A>G (p.His95Arg)	TSGA10 (H95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183623	NM_025244.4(TSGA10):c.236G>A (p.Arg79Gln)	TSGA10 (R79Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183622	NM_025244.4(TSGA10):c.2071G>A (p.Glu691Lys)	TSGA10 (E691K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183621	NM_025244.4(TSGA10):c.2023C>T (p.Arg675Cys)	TSGA10 (R566C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183620	NM_025244.4(TSGA10):c.1931C>T (p.Ala644Val)	TSGA10 (A535V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183619	NM_025244.4(TSGA10):c.1913G>T (p.Arg638Leu)	TSGA10 (R638L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183618	NM_025244.4(TSGA10):c.1913G>A (p.Arg638His)	TSGA10 (R529H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183617	NM_025244.4(TSGA10):c.1734A>T (p.Glu578Asp)	TSGA10 (E578D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183616	NM_025244.4(TSGA10):c.1721A>G (p.Asn574Ser)	TSGA10 (N465S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183615	NM_025244.4(TSGA10):c.1172A>G (p.Asp391Gly)	TSGA10 (D391G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183614	NM_025244.4(TSGA10):c.1084G>A (p.Ala362Thr)	TSGA10 (A362T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054408	NM_025244.4(TSGA10):c.52-9_52-2del	TSGA10	Deletion (splice acceptor variant)	TSGA10-related disorder	GLikely benign
Select item 3040918	NM_025244.4(TSGA10):c.594A>G (p.Ala198=)	TSGA10	Single nucleotide variant (synonymous variant +1 more)	TSGA10-related disorder	GLikely benign
Select item 3035007	NM_025244.4(TSGA10):c.195C>T (p.Phe65=)	TSGA10	Single nucleotide variant (synonymous variant +1 more)	TSGA10-related disorder	GLikely benign
Select item 3029548	NM_025244.4(TSGA10):c.1035G>A (p.Arg345=)	TSGA10	Single nucleotide variant (synonymous variant +1 more)	TSGA10-related disorder	GLikely benign
Select item 3025572	NM_025244.4(TSGA10):c.1107+5A>G	TSGA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024730	NM_144706.4(C2orf15):c.52G>A (p.Asp18Asn)	C2orf15, TSGA10 (D18N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2651181	NM_025244.4(TSGA10):c.1108-6del	TSGA10	Deletion (intron variant)	not provided	GLikely benign
Select item 2621731	NM_025244.4(TSGA10):c.791A>G (p.Asn264Ser)	TSGA10 (N264S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601030	NM_025244.4(TSGA10):c.1792C>T (p.His598Tyr)	TSGA10 (H598Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561446	NM_025244.4(TSGA10):c.338G>A (p.Arg113Gln)	TSGA10 (R113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549546	NM_025244.4(TSGA10):c.1295G>A (p.Arg432His)	TSGA10 (R323H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543612	NM_025244.4(TSGA10):c.2024G>A (p.Arg675His)	TSGA10 (R675H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522328	NM_025244.4(TSGA10):c.1136A>G (p.His379Arg)	TSGA10 (H270R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464112	NM_025244.4(TSGA10):c.772A>G (p.Ile258Val)	TSGA10 (I258V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410719	NM_025244.4(TSGA10):c.257G>C (p.Cys86Ser)	TSGA10 (C86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392361	NM_025244.4(TSGA10):c.1510G>A (p.Ala504Thr)	TSGA10 (A504T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355297	NM_025244.4(TSGA10):c.908A>G (p.Asn303Ser)	TSGA10 (N303S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350284	NM_025244.4(TSGA10):c.605C>A (p.Ser202Tyr)	TSGA10 (S202Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348544	NM_144706.4(C2orf15):c.259A>T (p.Met87Leu)	C2orf15, TSGA10 (M87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341261	NM_025244.4(TSGA10):c.526G>A (p.Glu176Lys)	TSGA10 (E176K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336559	NM_025244.4(TSGA10):c.596A>G (p.Glu199Gly)	TSGA10 (E199G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327492	NM_025244.4(TSGA10):c.1333C>G (p.Leu445Val)	TSGA10 (L336V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314816	NM_025244.4(TSGA10):c.959T>C (p.Ile320Thr)	TSGA10 (I320T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299722	NM_025244.4(TSGA10):c.1114T>A (p.Ser372Thr)	TSGA10 (S263T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297830	NM_025244.4(TSGA10):c.1030G>T (p.Ala344Ser)	TSGA10 (A235S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288099	NM_025244.4(TSGA10):c.2060G>A (p.Arg687Gln)	TSGA10 (R687Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278268	NM_025244.4(TSGA10):c.2029C>T (p.His677Tyr)	TSGA10 (H568Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266085	NM_025244.4(TSGA10):c.2033A>G (p.His678Arg)	TSGA10 (H569R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256846	NM_025244.4(TSGA10):c.1864C>A (p.Gln622Lys)	TSGA10 (Q513K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255924	NM_025244.4(TSGA10):c.1166T>A (p.Val389Asp)	TSGA10 (V280D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252517	NM_144706.4(C2orf15):c.4G>A (p.Gly2Arg)	C2orf15, TSGA10 (G2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231450	NM_025244.4(TSGA10):c.424C>G (p.Gln142Glu)	TSGA10 (Q142E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230907	NM_025244.4(TSGA10):c.514A>G (p.Ile172Val)	TSGA10 (I172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
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 1526885	GRCh37/hg19 2q11.2(chr2:99725222-99846305)	C2orf15, LIPT1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1294393	NC_000002.12:g.99154805G>C	LIPT1, TSGA10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270802	NC_000002.12:g.99154809C>T	LIPT1, TSGA10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 980468	GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3	LYG2, TXNDC9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 774288	NM_025244.4(TSGA10):c.750T>C (p.Ile250=)	TSGA10	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 773485	NM_025244.4(TSGA10):c.1218+4T>G	TSGA10	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 734295	NM_025244.4(TSGA10):c.357A>G (p.Arg119=)	TSGA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717144	NM_025244.4(TSGA10):c.975C>T (p.Asp325=)	TSGA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708463	NM_025244.4(TSGA10):c.1341T>G (p.Thr447=)	TSGA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523232	NM_182911.4(TSGA10):c.211del	TSGA10	Deletion (splice acceptor variant)	Spermatogenic failure 26	GPathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394307	GRCh37/hg19 2q11.2(chr2:99688765-99797625)x3	C2orf15, LIPT1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 80