FNDC9[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 2604659	NM_001001343.4(FNDC9):c.632G>T (p.Gly211Val)	CYFIP2, FNDC9 (G211V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366028	NM_001001343.4(FNDC9):c.630G>T (p.Arg210Ser)	CYFIP2, FNDC9 (R210S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315183	NM_001001343.4(FNDC9):c.629G>A (p.Arg210Lys)	CYFIP2, FNDC9 (R210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336393	NM_001001343.4(FNDC9):c.581T>C (p.Leu194Pro)	CYFIP2, FNDC9 (L194P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1335608	NM_001001343.4(FNDC9):c.576T>G (p.Ala192=)	CYFIP2, FNDC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3279432	NM_001001343.4(FNDC9):c.553C>T (p.Arg185Cys)	CYFIP2, FNDC9 (R185C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268286	NM_001001343.4(FNDC9):c.539T>A (p.Leu180Gln)	CYFIP2, FNDC9 (L180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398347	NM_001001343.4(FNDC9):c.428C>T (p.Pro143Leu)	CYFIP2, FNDC9 (P143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655994	NM_001037333.3(CYFIP2):c.2673+1988A>G	CYFIP2, FNDC9 (I131T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2353553	NM_001001343.4(FNDC9):c.325C>T (p.Pro109Ser)	CYFIP2, FNDC9 (P109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543399	NM_001001343.4(FNDC9):c.288T>A (p.Asp96Glu)	CYFIP2, FNDC9 (D96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395764	NM_001001343.4(FNDC9):c.287A>G (p.Asp96Gly)	CYFIP2, FNDC9 (D96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463686	NM_001001343.4(FNDC9):c.260A>G (p.His87Arg)	FNDC9, CYFIP2 (H87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279434	NM_001001343.4(FNDC9):c.179C>T (p.Ser60Phe)	CYFIP2, FNDC9 (S60F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279433	NM_001001343.4(FNDC9):c.178T>A (p.Ser60Thr)	CYFIP2, FNDC9 (S60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655995	NM_001001343.4(FNDC9):c.150C>T (p.His50=)	CYFIP2, FNDC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2381292	NM_001001343.4(FNDC9):c.134G>A (p.Arg45His)	CYFIP2, FNDC9 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096118	NM_001001343.4(FNDC9):c.64C>T (p.Pro22Ser)	CYFIP2, FNDC9 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246457	NC_000005.9:g.(?_156712372)_(156820008_?)dup	CYFIP2, FNDC9	Duplication	not provided	GUncertain significance
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
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 1807669	GRCh37/hg19 5q33.3(chr5:156486127-156930814)x3	ADAM19, CYFIP2 +6 more	Copy number gain	not provided	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 1481597	NC_000005.9:g.(?_155935591)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	not provided	GUncertain significance
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 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 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +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

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Items: 38