ClinVar for Gene (Select 50848) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 774586	NM_016946.6(F11R):c.438G>A (p.Gly146=)	F11R	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	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
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 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38