ClinVar for Gene (Select 55174) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 120

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245557	NC_000008.10:g.(?_19362692)_(20112692_?)del	ATP6V1B2, CSGALNACT1 +4 more	Deletion	not provided	GPathogenic
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1-AS1, ATP6V1B2 +10 more	Deletion	not provided	GPathogenic
Select item 3110081	NM_018142.4(INTS10):c.74C>G (p.Ala25Gly)	INTS10 (A25G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110080	NM_018142.4(INTS10):c.454G>A (p.Glu152Lys)	INTS10 (E152K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110079	NM_018142.4(INTS10):c.31G>T (p.Val11Leu)	INTS10 (V11L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110077	NM_018142.4(INTS10):c.1832T>A (p.Ile611Asn)	INTS10 (I361N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110076	NM_018142.4(INTS10):c.1595A>G (p.Lys532Arg)	INTS10 (K303R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110074	NM_018142.4(INTS10):c.1474C>T (p.His492Tyr)	INTS10 (H242Y +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110073	NM_018142.4(INTS10):c.1138A>G (p.Met380Val)	INTS10 (M267V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110072	NM_018142.4(INTS10):c.101G>T (p.Ser34Ile)	INTS10 (S34I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	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 2685304	GRCh37/hg19 8p21.3(chr8:19323985-20513166)x1	SLC18A1, ATP6V1B2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2611221	NM_018142.4(INTS10):c.737C>T (p.Thr246Met)	INTS10 (T17M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608884	NM_018142.4(INTS10):c.1613C>G (p.Ser538Trp)	INTS10 (S426W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597403	NM_018142.4(INTS10):c.425C>T (p.Thr142Met)	INTS10 (T29M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2542357	NM_018142.4(INTS10):c.1876G>A (p.Val626Ile)	INTS10 (V398I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524147	NM_018142.4(INTS10):c.959A>G (p.Lys320Arg)	INTS10 (K299R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509391	NM_018142.4(INTS10):c.2054G>A (p.Arg685His)	INTS10 (R456H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486849	NM_018142.4(INTS10):c.1224A>T (p.Glu408Asp)	INTS10 (E180D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485403	NM_018142.4(INTS10):c.1085G>A (p.Arg362His)	INTS10 (R341H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483300	NM_018142.4(INTS10):c.1353C>A (p.Phe451Leu)	INTS10 (F450L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481576	NM_018142.4(INTS10):c.11A>G (p.Gln4Arg)	INTS10 (Q4R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463249	NM_018142.4(INTS10):c.1678A>G (p.Ile560Val)	INTS10 (I515V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445493	NC_000008.10:g.(?_17915043)_(20112692_?)dup	ASAH1, ASAH1-AS1 +10 more	Duplication	not provided	GUncertain significance
Select item 2404442	NM_018142.4(INTS10):c.1163C>G (p.Ser388Trp)	INTS10 (S160W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384550	NM_018142.4(INTS10):c.527G>T (p.Cys176Phe)	INTS10 (C131F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382300	NM_018142.4(INTS10):c.684T>A (p.Asp228Glu)	INTS10 (D183E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2376786	NM_018142.4(INTS10):c.152G>A (p.Arg51Gln)	INTS10, LOC129999953 (R51Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374662	NM_018142.4(INTS10):c.1420G>A (p.Ala474Thr)	INTS10 (A224T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338942	NM_018142.4(INTS10):c.313A>G (p.Thr105Ala)	INTS10 (T60A +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2333773	NM_018142.4(INTS10):c.1394C>T (p.Ala465Val)	INTS10 (A352V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328482	NM_018142.4(INTS10):c.1603G>A (p.Glu535Lys)	INTS10 (E285K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306396	NM_018142.4(INTS10):c.1271A>G (p.Tyr424Cys)	INTS10 (Y312C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274569	NM_018142.4(INTS10):c.757G>A (p.Val253Met)	INTS10 (V208M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264065	NM_018142.4(INTS10):c.316C>T (p.Leu106Phe)	INTS10 (L106F +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2259687	NM_018142.4(INTS10):c.604G>A (p.Ala202Thr)	INTS10 (A202T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258831	NM_018142.4(INTS10):c.526T>G (p.Cys176Gly)	INTS10 (C131G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244220	NM_018142.4(INTS10):c.577A>C (p.Asn193His)	INTS10 (N193H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ASAH1, ASAH1-AS1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1341284	GRCh37/hg19 8p21.3(chr8:19157330-19780975)x3	CSGALNACT1, INTS10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815109	GRCh37/hg19 8p21.3(chr8:19334399-19809695)x3	LPL, CSGALNACT1 +1 more	Copy number gain	not provided	GUncertain significance
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 687098	GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1	ATP6V1B2, CSGALNACT1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 686096	GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1	ATP6V1B2, INTS10 +3 more	Copy number loss	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563511	GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3	LZTS1, LPL +3 more	Copy number gain	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 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 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 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 441615	GRCh37/hg19 8p21.3(chr8:19108471-19816839)x3	SH2D4A, CSGALNACT1 +2 more	Copy number gain	See cases	GLikely benign
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 395534	GRCh37/hg19 8p22-21.3(chr8:18770061-19709425)x3	CSGALNACT1, INTS10 +2 more	Copy number gain	See cases	GLikely benign
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 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 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 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2