28204[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 151105	GRCh38/hg38 1q42.2(chr1:232404562-233269974)x3	LINC01744, LINC01745 +25 more	Copy number gain	See cases	GLikely benign
Select item 155293	GRCh38/hg38 1q42.2(chr1:232884821-233090102)x1	LOC126806047, LOC126806048 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2273578	NM_032324.3(NTPCR):c.7C>T (p.Arg3Trp)	NTPCR (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202637	NM_032324.3(NTPCR):c.8G>C (p.Arg3Pro)	NTPCR (R3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301305	NM_032324.3(NTPCR):c.13G>C (p.Val5Leu)	NTPCR (V5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569820	NM_032324.3(NTPCR):c.28C>T (p.Pro10Ser)	NTPCR (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202636	NM_032324.3(NTPCR):c.58C>T (p.His20Tyr)	NTPCR (H20Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297875	NM_032324.3(NTPCR):c.157G>A (p.Val53Ile)	NTPCR (V53I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382181	NM_032324.3(NTPCR):c.169G>A (p.Gly57Ser)	NTPCR (G57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202628	NM_032324.3(NTPCR):c.211C>T (p.Pro71Ser)	NTPCR (P71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202629	NM_032324.3(NTPCR):c.270G>T (p.Gln90His)	NTPCR (Q90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245919	NM_032324.3(NTPCR):c.274G>A (p.Ala92Thr)	NTPCR (A92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202630	NM_032324.3(NTPCR):c.283G>A (p.Val95Ile)	NTPCR (V95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376298	NM_032324.3(NTPCR):c.331G>A (p.Val111Ile)	NTPCR (V111I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3202631	NM_032324.3(NTPCR):c.344T>C (p.Ile115Thr)	NTPCR (I115T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202632	NM_032324.3(NTPCR):c.385G>A (p.Val129Ile)	NTPCR (V129I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390039	NM_032324.3(NTPCR):c.388C>T (p.Arg130Cys)	NTPCR (R130C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332948	NM_032324.3(NTPCR):c.395C>T (p.Thr132Met)	NTPCR (T132M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494508	NM_032324.3(NTPCR):c.404C>T (p.Thr135Ile)	NTPCR (T135I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202633	NM_032324.3(NTPCR):c.409G>C (p.Gly137Arg)	NTPCR (G137R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287086	NM_032324.3(NTPCR):c.460C>A (p.Leu154Ile)	NTPCR (L154I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410259	NM_032324.3(NTPCR):c.511A>G (p.Lys171Glu)	LOC126806048, NTPCR (K171E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202634	NM_032324.3(NTPCR):c.513G>C (p.Lys171Asn)	LOC126806048, NTPCR (G103R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205771	NM_032324.3(NTPCR):c.548C>T (p.Thr183Met)	LOC126806048, NTPCR (T113M +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808086	GRCh37/hg19 1q42.2(chr1:231949332-233142053)x1	DISC1, DISC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	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 1701131	GRCh37/hg19 1q42.2-42.3(chr1:233086457-234745240)x1	COA6, IRF2BP2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 688831	GRCh37/hg19 1q42.2(chr1:232433695-233376150)x1	MAP10, NTPCR +2 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 565236	GRCh37/hg19 1q42.2(chr1:232742828-234398133)x1	MAP3K21, MAP10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442753	GRCh37/hg19 1q42.2(chr1:232539261-233425535)x3	MAP10, NTPCR +2 more	Copy number gain	See cases	GLikely benign
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 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 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 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic

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Items: 69