F11R[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3091399	NM_016946.6(F11R):c.884C>T (p.Ser295Leu)	F11R (S290L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091398	NM_016946.6(F11R):c.742A>T (p.Ile248Phe)	F11R (I199F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468766	NM_016946.6(F11R):c.727G>A (p.Val243Ile)	F11R (V233I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294307	NM_016946.6(F11R):c.701G>A (p.Arg234Gln)	F11R (R185Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276927	NM_016946.6(F11R):c.700C>T (p.Arg234Trp)	F11R (R234W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091397	NM_016946.6(F11R):c.682C>T (p.Arg228Cys)	F11R (R205C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378937	NM_016946.6(F11R):c.655G>C (p.Gly219Arg)	F11R (G196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408357	NM_016946.6(F11R):c.643C>T (p.Arg215Trp)	F11R (R215W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091396	NM_016946.6(F11R):c.578C>T (p.Thr193Ile)	F11R (T144I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091394	NM_016946.6(F11R):c.542G>T (p.Arg181Leu)	F11R (R158L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601543	NM_016946.6(F11R):c.534A>C (p.Lys178Asn)	F11R (K129N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276926	NM_016946.6(F11R):c.524C>T (p.Thr175Met)	F11R (T126M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276928	NM_016946.6(F11R):c.520C>G (p.Pro174Ala)	F11R (P125A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774586	NM_016946.6(F11R):c.438G>A (p.Gly146=)	F11R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2376915	NM_016946.6(F11R):c.316A>G (p.Thr106Ala)	F11R (T106A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288215	NM_016946.6(F11R):c.257G>A (p.Arg86Gln)	F11R (R63Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469828	NM_016946.6(F11R):c.190T>A (p.Phe64Ile)	F11R (F64I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343349	NM_016946.6(F11R):c.149G>A (p.Cys50Tyr)	F11R (C27Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263370	NM_016946.6(F11R):c.121C>T (p.Pro41Ser)	F11R (P41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
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

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Items: 38