ClinVar for Gene (Select 9788) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296783	NM_014751.6(MTSS1):c.2140G>C (p.Glu714Gln)	MTSS1 (E649Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296782	NM_014751.6(MTSS1):c.1858A>G (p.Thr620Ala)	MTSS1 (T559A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296781	NM_014751.6(MTSS1):c.832A>G (p.Asn278Asp)	MTSS1 (N277D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296780	NM_014751.6(MTSS1):c.101T>C (p.Ile34Thr)	MTSS1 (I34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296779	NM_014751.6(MTSS1):c.2242G>A (p.Asp748Asn)	MTSS1 (D666N +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296778	NM_014751.6(MTSS1):c.1924G>A (p.Glu642Lys)	MTSS1 (E581K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296777	NM_014751.6(MTSS1):c.1361A>C (p.Glu454Ala)	MTSS1 (E372A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296776	NM_014751.6(MTSS1):c.691A>G (p.Met231Val)	MTSS1 (M231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
Select item 3218202	NM_014751.6(MTSS1):c.875C>T (p.Ser292Leu)	MTSS1 (S295L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218200	NM_014751.6(MTSS1):c.865G>A (p.Gly289Ser)	MTSS1 (G292S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218196	NM_014751.6(MTSS1):c.856C>T (p.Arg286Trp)	MTSS1 (R285W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218184	NM_014751.6(MTSS1):c.398C>T (p.Ala133Val)	MTSS1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218179	NM_014751.6(MTSS1):c.295G>T (p.Ala99Ser)	MTSS1 (A99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218176	NM_014751.6(MTSS1):c.2128G>A (p.Gly710Ser)	MTSS1 (G645S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218158	NM_014751.6(MTSS1):c.2065G>A (p.Ala689Thr)	MTSS1 (A667T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218142	NM_014751.6(MTSS1):c.1921G>A (p.Gly641Arg)	MTSS1 (G616R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218135	NM_014751.6(MTSS1):c.1894G>C (p.Ala632Pro)	MTSS1 (A566P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218092	NM_014751.6(MTSS1):c.1433A>G (p.Glu478Gly)	MTSS1 (E412G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218040	NM_014751.6(MTSS1):c.1231G>A (p.Asp411Asn)	MTSS1 (D346N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218024	NM_014751.6(MTSS1):c.1186A>C (p.Ile396Leu)	MTSS1 (I395L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218001	NM_014751.6(MTSS1):c.1031A>C (p.Asn344Thr)	MTSS1 (N344T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GSDMC, LY6D +173 more	Copy number gain	not provided	GPathogenic
Select item 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2658798	NM_014751.6(MTSS1):c.483G>A (p.Gln161=)	MTSS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658797	NM_014751.6(MTSS1):c.876G>A (p.Ser292=)	MTSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604148	NM_014751.6(MTSS1):c.1111C>T (p.His371Tyr)	MTSS1 (H375Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599937	NM_014751.6(MTSS1):c.1943C>T (p.Pro648Leu)	MTSS1 (P566L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599873	NM_014751.6(MTSS1):c.1436T>G (p.Leu479Arg)	MTSS1 (L413R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592083	NM_014751.6(MTSS1):c.1391C>T (p.Ser464Leu)	MTSS1 (S398L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569708	NM_014751.6(MTSS1):c.1999G>A (p.Gly667Ser)	MTSS1 (G671S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523773	NM_014751.6(MTSS1):c.1409G>C (p.Gly470Ala)	MTSS1 (G404A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512673	NM_014751.6(MTSS1):c.1993T>G (p.Trp665Gly)	MTSS1 (W644G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494354	NM_014751.6(MTSS1):c.454A>C (p.Lys152Gln)	MTSS1 (K152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484334	NM_014751.6(MTSS1):c.1158C>A (p.His386Gln)	MTSS1 (H385Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468124	NM_014751.6(MTSS1):c.1457G>A (p.Gly486Asp)	MTSS1 (G464D +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464406	NM_014751.6(MTSS1):c.7G>C (p.Ala3Pro)	MTSS1 (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2409628	NM_014751.6(MTSS1):c.1733G>A (p.Gly578Glu)	MTSS1 (G496E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400941	NM_014751.6(MTSS1):c.797C>T (p.Thr266Ile)	MTSS1 (T266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400081	NM_014751.6(MTSS1):c.830T>C (p.Leu277Pro)	MTSS1 (L281P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387442	NM_014751.6(MTSS1):c.1690G>A (p.Ala564Thr)	MTSS1 (A503T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386164	NM_014751.6(MTSS1):c.1918C>T (p.Arg640Trp)	MTSS1 (R574W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384424	NM_014751.6(MTSS1):c.1285C>T (p.Arg429Cys)	MTSS1 (R364C +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367041	NM_014751.6(MTSS1):c.1742T>C (p.Met581Thr)	MTSS1 (M515T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330896	NM_014751.6(MTSS1):c.1196G>T (p.Gly399Val)	MTSS1 (G403V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304525	NM_014751.6(MTSS1):c.263G>A (p.Ser88Asn)	MTSS1 (S88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299220	NM_014751.6(MTSS1):c.1477A>G (p.Arg493Gly)	MTSS1 (R432G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295483	NM_014751.6(MTSS1):c.1837A>G (p.Thr613Ala)	MTSS1 (T547A +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290731	NM_014751.6(MTSS1):c.1922G>A (p.Gly641Glu)	MTSS1 (G615E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286147	NM_014751.6(MTSS1):c.881C>T (p.Ser294Phe)	MTSS1 (S297F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282679	NM_014751.6(MTSS1):c.1529C>T (p.Thr510Ile)	MTSS1 (T449I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277139	NM_014751.6(MTSS1):c.206G>A (p.Arg69His)	MTSS1 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261771	NM_014751.6(MTSS1):c.1397C>T (p.Ala466Val)	MTSS1 (A384V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259948	NM_014751.6(MTSS1):c.1265T>A (p.Leu422Gln)	MTSS1 (L397Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251369	NM_014751.6(MTSS1):c.2099G>C (p.Arg700Pro)	MTSS1 (R618P +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238762	NM_014751.6(MTSS1):c.1370G>A (p.Arg457Lys)	MTSS1 (R392K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238449	NM_014751.6(MTSS1):c.2084C>G (p.Ala695Gly)	MTSS1 (A670G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216958	NM_014751.6(MTSS1):c.1697G>A (p.Arg566His)	MTSS1 (R545H +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213113	NM_014751.6(MTSS1):c.974T>C (p.Ile325Thr)	MTSS1 (I329T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209308	NM_014751.6(MTSS1):c.1486C>T (p.Arg496Trp)	MTSS1 (R430W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1695237	NM_014751.6(MTSS1):c.1017G>T (p.Pro339=)	MTSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 815165	GRCh37/hg19 8q24.13(chr8:125584474-126043912)x1	ZNF572, SQLE +2 more	Copy number loss	not provided	GUncertain significance
Select item 815164	GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3	TRIB1, FER1L6 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 802439	NM_014751.6(MTSS1):c.619-571G>A	MTSS1, NDUFB9	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 24	GBenign
Select item 802438	NM_014751.6(MTSS1):c.1036-28C>T	MTSS1, NDUFB9	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 24	GBenign
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
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 687747	GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	ADCY8, ANXA13 +43 more	Copy number loss	not provided	GPathogenic
Select item 687742	GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3	MTSS1, NDUFB9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687465	GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1	ANXA13, ASAP1 +31 more	Copy number loss	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
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 443122	GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1	LRATD2, MTSS1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 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 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 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 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 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 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic

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