9158[geneid] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	LOC130006108, LOC130006109 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 58163	GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3	CCDC85B, CTSW +8 more	Copy number gain	See cases	GUncertain significance
Select item 2539508	NM_004214.5(FIBP):c.1064A>G (p.Tyr355Cys)	FIBP (Y362C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409778	NM_004214.5(FIBP):c.1055T>G (p.Leu352Arg)	FIBP (L352R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782714	NM_004214.5(FIBP):c.1044C>T (p.Arg348=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368780	NM_004214.5(FIBP):c.1042C>T (p.Arg348Cys)	FIBP (R355C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708401	NM_004214.5(FIBP):c.1030A>G (p.Met344Val)	FIBP (M351V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2533802	NM_004214.5(FIBP):c.1024C>T (p.Arg342Cys)	FIBP (R342C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274731	NM_004214.5(FIBP):c.1021G>C (p.Asp341His)	FIBP (D341H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785815	NM_004214.5(FIBP):c.1005-10G>A	FIBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285269	NM_004214.5(FIBP):c.1004+33T>C	FIBP	Single nucleotide variant (intron variant)	Tall stature-intellectual disability-renal anomalies syndrome	GBenign
Select item 1033667	NM_004214.5(FIBP):c.1004G>C (p.Arg335Pro)	FIBP (R335P +1 more)	Single nucleotide variant (missense variant)	Tall stature-intellectual disability-renal anomalies syndrome	GUncertain significance
Select item 2604281	NM_004214.5(FIBP):c.973T>G (p.Ser325Ala)	FIBP (S325A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048041	NM_004214.5(FIBP):c.963G>A (p.Leu321=)	FIBP	Single nucleotide variant (synonymous variant)	FIBP-related condition	GLikely benign
Select item 738656	NM_004214.5(FIBP):c.960C>T (p.Phe320=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469703	NM_004214.5(FIBP):c.949G>A (p.Val317Met)	FIBP (V317M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527281	NM_004214.5(FIBP):c.944G>T (p.Ser315Ile)	FIBP (S315I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369649	NM_004214.5(FIBP):c.940C>T (p.Leu314Phe)	FIBP (L314F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479714	NM_004214.5(FIBP):c.926C>T (p.Ser309Phe)	FIBP (S316F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784194	NM_004214.5(FIBP):c.897C>T (p.Leu299=)	FIBP	Single nucleotide variant (synonymous variant)	FIBP-related condition +1 more	GBenign
Select item 2229100	NM_004214.5(FIBP):c.827C>A (p.Ser276Tyr)	FIBP (S276Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730089	NM_004214.5(FIBP):c.789C>T (p.Gly263=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065901	NM_004214.5(FIBP):c.747del (p.His250fs)	FIBP (H250fs +1 more)	Deletion (frameshift variant)	Tall stature-intellectual disability-renal anomalies syndrome	GLikely pathogenic
Select item 781005	NM_004214.5(FIBP):c.720A>T (p.Leu240=)	FIBP, LOC130006079	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1033668	NM_004214.5(FIBP):c.668A>G (p.Asp223Gly)	FIBP (D223G +1 more)	Single nucleotide variant (missense variant)	Tall stature-intellectual disability-renal anomalies syndrome	GUncertain significance
Select item 2618629	NM_004214.5(FIBP):c.665T>G (p.Met222Arg)	FIBP (M222R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 189359	NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)	FIBP (Q218* +1 more)	Single nucleotide variant (nonsense)	Learning disability +6 more	GPathogenic/Likely pathogenic
Select item 781006	NM_004214.5(FIBP):c.645C>T (p.Val215=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326047	NM_004214.5(FIBP):c.628T>C (p.Trp210Arg)	FIBP (W210R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252530	NM_004214.5(FIBP):c.598G>C (p.Ala200Pro)	FIBP (A200P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541441	NM_004214.5(FIBP):c.589G>A (p.Gly197Ser)	FIBP (G197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252529	NM_004214.5(FIBP):c.586T>G (p.Phe196Val)	FIBP (F196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708689	NM_004214.5(FIBP):c.561G>A (p.Gly187=)	FIBP	Single nucleotide variant (synonymous variant)	FIBP-related condition +1 more	GLikely benign
Select item 3064770	NM_004214.5(FIBP):c.558_559del (p.Gly187fs)	FIBP (G187fs)	Deletion (frameshift variant)	Tall stature-intellectual disability-renal anomalies syndrome	GLikely pathogenic
Select item 2641976	NM_004214.5(FIBP):c.525C>T (p.Ala175=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404309	NM_004214.5(FIBP):c.518A>G (p.Tyr173Cys)	FIBP (Y173C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 451590	NM_004214.5(FIBP):c.490del (p.Leu164fs)	FIBP (L164fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 800840	NM_004214.5(FIBP):c.412-11C>G	FIBP	Single nucleotide variant (intron variant)	Tall stature-intellectual disability-renal anomalies syndrome	GUncertain significance
Select item 2318626	NM_004214.5(FIBP):c.385A>G (p.Ile129Val)	FIBP (I129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757559	NM_004214.5(FIBP):c.297T>C (p.Phe99=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539421	NM_004214.5(FIBP):c.263G>A (p.Arg88Gln)	FIBP (R88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712102	NM_004214.5(FIBP):c.219G>T (p.Pro73=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2491443	NM_004214.5(FIBP):c.214G>A (p.Ala72Thr)	FIBP (A72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325790	NM_004214.5(FIBP):c.214G>T (p.Ala72Ser)	FIBP (A72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542073	NM_004214.5(FIBP):c.196C>T (p.Leu66Phe)	FIBP (L66F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 254242	NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn)	FIBP	Insertion (inframe_indel)	Tall stature-intellectual disability-renal anomalies syndrome	GPathogenic
Select item 2268530	NM_004214.5(FIBP):c.166A>G (p.Thr56Ala)	FIBP (T56A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781007	NM_004214.5(FIBP):c.150G>C (p.Ala50=)	FIBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738073	NM_004214.5(FIBP):c.123C>G (p.Ile41Met)	FIBP (I41M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 451199	NM_004214.5(FIBP):c.86-2A>C	FIBP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 797841	NM_004214.5(FIBP):c.24C>T (p.Phe8=)	FIBP, LOC130006080	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745320	NM_004214.5(FIBP):c.21C>T (p.Ile7=)	LOC130006080, FIBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 64