6272[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 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2341201	NM_002245.4(KCNK1):c.73T>A (p.Phe25Ile)	KCNK1 (F25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252015	NM_002245.4(KCNK1):c.149A>G (p.Asp50Gly)	KCNK1 (D50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287665	NM_002245.4(KCNK1):c.203A>C (p.Glu68Ala)	KCNK1 (E68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530677	NM_002245.4(KCNK1):c.234C>G (p.Phe78Leu)	KCNK1 (F78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602656	NM_002245.4(KCNK1):c.235C>A (p.Leu79Met)	KCNK1 (L79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569357	NM_002245.4(KCNK1):c.251A>C (p.Glu84Ala)	KCNK1 (E84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287663	NM_002245.4(KCNK1):c.319G>T (p.Ala107Ser)	KCNK1 (A107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113351	NM_002245.4(KCNK1):c.370G>A (p.Val124Met)	KCNK1 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491124	NM_002245.4(KCNK1):c.388G>A (p.Gly130Ser)	KCNK1 (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246009	NM_002245.4(KCNK1):c.415G>A (p.Val139Ile)	KCNK1 (V139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614244	NM_002245.4(KCNK1):c.478G>T (p.Val160Phe)	KCNK1 (V160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287662	NM_002245.4(KCNK1):c.485G>A (p.Arg162His)	KCNK1 (R162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287661	NM_002245.4(KCNK1):c.499T>C (p.Tyr167His)	KCNK1 (Y167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228381	NM_002245.4(KCNK1):c.532G>A (p.Val178Met)	KCNK1 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257686	NM_002245.4(KCNK1):c.707G>A (p.Gly236Asp)	KCNK1 (G236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113352	NM_002245.4(KCNK1):c.730C>T (p.Leu244Phe)	KCNK1 (L244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300964	NM_002245.4(KCNK1):c.825A>T (p.Lys275Asn)	KCNK1 (K275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474365	NM_002245.4(KCNK1):c.886C>T (p.His296Tyr)	KCNK1 (H296Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287664	NM_002245.4(KCNK1):c.953A>G (p.Asn318Ser)	KCNK1 (N318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541627	NM_002245.4(KCNK1):c.977C>T (p.Ser326Leu)	KCNK1 (S326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378859	NM_002245.4(KCNK1):c.991G>A (p.Asp331Asn)	KCNK1 (D331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685910	GRCh37/hg19 1q42.2(chr1:233335851-234100031)x1	KCNK1, MAP3K21 +2 more	Copy number loss	not provided	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 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	NUCKS1, NUDT17 +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 688185	GRCh37/hg19 1q42.2(chr1:233514111-233998612)x3	KCNK1, MAP3K21	Copy number gain	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 443879	GRCh37/hg19 1q42.2(chr1:233688767-233967082)x1	KCNK1	Copy number loss	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
Select item 253962	GRCh37/hg19 1q42.2(chr1:233234142-234435116)x3	SLC35F3, MAP3K21 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 69