ClinVar for Gene (Select 114898) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2612306	NM_031908.6(C1QTNF2):c.347C>T (p.Thr116Ile)	C1QTNF2 (T116I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546266	NM_031908.4(C1QTNF2):c.4G>A (p.Gly2Arg)	C1QTNF2 (G2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535713	NM_031908.6(C1QTNF2):c.843C>A (p.Asp281Glu)	C1QTNF2 (D213E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526148	NM_031908.6(C1QTNF2):c.-75G>C	C1QTNF2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2514540	NM_031908.6(C1QTNF2):c.615C>G (p.Asn205Lys)	C1QTNF2 (N137K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491909	NM_031908.6(C1QTNF2):c.766C>A (p.Gln256Lys)	C1QTNF2 (Q188K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461970	NM_031908.6(C1QTNF2):c.837G>C (p.Gln279His)	C1QTNF2 (Q211H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458928	NM_031908.6(C1QTNF2):c.694G>A (p.Val232Met)	C1QTNF2 (V164M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409080	NM_031908.6(C1QTNF2):c.662G>A (p.Arg221Gln)	C1QTNF2 (R221Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399551	NM_031908.6(C1QTNF2):c.214G>T (p.Asp72Tyr)	C1QTNF2 (D72Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396809	NM_031908.6(C1QTNF2):c.365C>T (p.Thr122Ile)	C1QTNF2 (T122I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368472	NM_031908.6(C1QTNF2):c.199G>A (p.Gly67Ser)	C1QTNF2 (G67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357840	NM_031908.6(C1QTNF2):c.-104G>A	C1QTNF2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2316411	NM_031908.6(C1QTNF2):c.121C>A (p.Pro41Thr)	C1QTNF2 (P41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316140	NM_031908.6(C1QTNF2):c.496C>G (p.Pro166Ala)	C1QTNF2 (P98A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308168	NM_031908.6(C1QTNF2):c.782A>G (p.Tyr261Cys)	C1QTNF2 (Y193C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305966	NM_031908.6(C1QTNF2):c.731G>A (p.Gly244Asp)	C1QTNF2 (G176D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255362	NM_031908.4(C1QTNF2):c.5G>A (p.Gly2Glu)	C1QTNF2 (G2E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226098	NM_031908.6(C1QTNF2):c.415G>A (p.Gly139Ser)	C1QTNF2 (G139S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216437	NM_031908.6(C1QTNF2):c.832G>A (p.Asp278Asn)	C1QTNF2 (D278N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212752	NM_031908.6(C1QTNF2):c.850G>A (p.Glu284Lys)	C1QTNF2 (E216K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212307	NM_031908.6(C1QTNF2):c.313G>A (p.Ala105Thr)	C1QTNF2 (A105T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814759	GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1	C1QTNF2, GABRB2 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814758	GRCh37/hg19 5q33.3-34(chr5:159623973-160000962)x3	CCNJL, SLU7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563116	GRCh37/hg19 5q33.3-34(chr5:159694389-160048347)x1	SLU7, CCNJL +5 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394632	GRCh37/hg19 5q33.3(chr5:159624256-159781746)x3	C1QTNF2, CCNJL +1 more	Copy number gain	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 152417	GRCh38/hg38 5q33.3(chr5:160207321-160351176)x3	C1QTNF2, CCNJL +6 more	Copy number gain	See cases	GLikely benign
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	ADRA1B, ATP10B +107 more	Copy number loss	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	LOC129995100, LOC129995101 +294 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	LINC02159, LINC02202 +279 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50