24239[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3326562	NM_014858.4(TMCC2):c.14G>A (p.Arg5Lys)	TMCC2 (R5K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178284	NM_014858.4(TMCC2):c.65A>G (p.Glu22Gly)	TMCC2 (E22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523161	NM_014858.4(TMCC2):c.70G>A (p.Ala24Thr)	TMCC2 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282968	NM_014858.4(TMCC2):c.104C>A (p.Pro35His)	TMCC2 (P35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210828	NM_014858.4(TMCC2):c.115A>G (p.Thr39Ala)	TMCC2 (T39A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178281	NM_014858.4(TMCC2):c.148G>A (p.Asp50Asn)	TMCC2 (D50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178282	NM_014858.4(TMCC2):c.221T>C (p.Leu74Pro)	TMCC2 (L74P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2292000	NM_014858.4(TMCC2):c.229G>A (p.Gly77Ser)	TMCC2 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2613263	NM_014858.4(TMCC2):c.278G>A (p.Arg93Gln)	TMCC2 (R15Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203908	NM_014858.4(TMCC2):c.284G>A (p.Arg95Gln)	TMCC2 (R95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320688	NM_014858.4(TMCC2):c.341T>C (p.Met114Thr)	TMCC2 (M36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326565	NM_014858.4(TMCC2):c.374G>A (p.Arg125His)	TMCC2 (R125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 488946	NM_014858.4(TMCC2):c.402C>A (p.Tyr134Ter)	TMCC2 (Y134* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3178283	NM_014858.4(TMCC2):c.481A>G (p.Ile161Val)	TMCC2 (I161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544849	NM_014858.4(TMCC2):c.488G>A (p.Arg163Gln)	TMCC2 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251557	NM_014858.4(TMCC2):c.491G>A (p.Gly164Asp)	TMCC2 (G86D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326561	NM_014858.4(TMCC2):c.493G>A (p.Ala165Thr)	TMCC2 (A87T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326568	NM_014858.4(TMCC2):c.505A>G (p.Ser169Gly)	TMCC2 (S91G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618699	NM_014858.4(TMCC2):c.518G>T (p.Gly173Val)	TMCC2 (G95V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270521	NM_014858.4(TMCC2):c.520G>A (p.Gly174Ser)	TMCC2 (G174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357763	NM_014858.4(TMCC2):c.527G>A (p.Ser176Asn)	TMCC2 (S98N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326564	NM_014858.4(TMCC2):c.544C>T (p.Arg182Cys)	TMCC2 (R104C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345368	NM_014858.4(TMCC2):c.575G>A (p.Arg192His)	TMCC2 (R192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471090	NM_014858.4(TMCC2):c.596G>A (p.Arg199His)	TMCC2 (R121H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326566	NM_014858.4(TMCC2):c.604C>T (p.Pro202Ser)	TMCC2 (P124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711298	NM_014858.4(TMCC2):c.628A>G (p.Ile210Val)	TMCC2 (I132V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3178285	NM_014858.4(TMCC2):c.671C>T (p.Thr224Ile)	TMCC2 (T146I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280764	NM_014858.4(TMCC2):c.697G>A (p.Gly233Ser)	TMCC2 (G233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178286	NM_014858.4(TMCC2):c.706G>A (p.Val236Met)	TMCC2 (V158M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516409	NM_014858.4(TMCC2):c.739G>A (p.Gly247Arg)	TMCC2 (G169R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789555	NM_014858.4(TMCC2):c.747+10G>A	TMCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3326563	NM_014858.4(TMCC2):c.787G>A (p.Gly263Ser)	TMCC2 (G23S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178287	NM_014858.4(TMCC2):c.800C>G (p.Thr267Ser)	TMCC2 (T42S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326567	NM_014858.4(TMCC2):c.804C>G (p.Asp268Glu)	TMCC2 (D28E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588519	NM_014858.4(TMCC2):c.805G>T (p.Gly269Cys)	TMCC2 (G74C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737544	NM_014858.4(TMCC2):c.828C>T (p.Pro276=)	TMCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2411290	NM_014858.4(TMCC2):c.839C>T (p.Pro280Leu)	TMCC2 (P85L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178288	NM_014858.4(TMCC2):c.928C>T (p.Arg310Cys)	TMCC2 (R310C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483584	NM_014858.4(TMCC2):c.940G>T (p.Val314Leu)	TMCC2 (V74L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178289	NM_014858.4(TMCC2):c.994A>G (p.Ile332Val)	TMCC2 (I254V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226792	NM_014858.4(TMCC2):c.1027T>C (p.Ser343Pro)	TMCC2 (S103P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531736	NM_014858.4(TMCC2):c.1126G>A (p.Val376Met)	TMCC2 (V136M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476598	NM_014858.4(TMCC2):c.1178C>T (p.Ala393Val)	TMCC2 (A153V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178280	NM_014858.4(TMCC2):c.1297C>T (p.Arg433Cys)	TMCC2 (R355C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767745	NM_014858.4(TMCC2):c.1386C>T (p.Ser462=)	TMCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2262988	NM_014858.4(TMCC2):c.1825G>A (p.Val609Met)	LOC128772239, TMCC2 (V609M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326571	NM_014858.4(TMCC2):c.1886T>G (p.Val629Gly)	TMCC2 (V404G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211544	NM_014858.4(TMCC2):c.1934A>G (p.Lys645Arg)	TMCC2 (K567R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540327	NM_014858.4(TMCC2):c.1981G>A (p.Val661Met)	TMCC2 (V583M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229630	NM_014858.4(TMCC2):c.2006C>T (p.Thr669Met)	TMCC2 (T591M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240397	NM_014858.4(TMCC2):c.2015T>C (p.Met672Thr)	TMCC2 (M432T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814156	GRCh37/hg19 1q32.1(chr1:204954317-205346803)x1	KLHDC8A, NUAK2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 69