Related gene-specific medical variations for Gene (Select 2492) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062604	GRCh37/hg19 2p16.3(chr2:49153674-49281630)x1	FSHR	Copy number loss	not specified	GUncertain significance
Select item 1256041	NM_000145.4(FSHR):c.374T>G (p.Leu125Arg)	FSHR (L125R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256040	NM_000145.4(FSHR):c.1679_1685del (p.Asn560fs)	FSHR (N534fs +1 more)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256039	NM_000145.4(FSHR):c.683C>T (p.Thr228Ile)	FSHR (T202I +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256038	NM_000145.4(FSHR):c.1763T>C (p.Ile588Thr)	FSHR (I562T +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256032	NM_000145.4(FSHR):c.884C>T (p.Ser295Phe)	FSHR (S269F +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256023	NM_000145.4(FSHR):c.349C>T (p.Gln117Ter)	FSHR (Q117*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256019	NM_000145.4(FSHR):c.1396G>A (p.Glu466Lys)	FSHR (E440K +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 979350	GRCh37/hg19 2p16.3(chr2:49269243-49728748)x3	FSHR	Copy number gain	not provided	GUncertain significance
Select item 979343	GRCh37/hg19 2p16.3(chr2:49170144-49249325)x1	FSHR	Copy number loss	not provided	GUncertain significance
Select item 814246	GRCh37/hg19 2p16.3(chr2:49116220-49313690)x1	FSHR	Copy number loss	not provided	GUncertain significance
Select item 814245	GRCh37/hg19 2p16.3(chr2:49026601-49229962)x1	FSHR	Copy number loss	not provided	GUncertain significance
Select item 689110	GRCh37/hg19 2p16.3(chr2:49113632-49255072)x1	FSHR	Copy number loss	not provided	GPathogenic
Select item 686634	GRCh37/hg19 2p16.3(chr2:49158272-49209034)x1	FSHR	Copy number loss	not provided	GPathogenic
Select item 685720	GRCh37/hg19 2p16.3(chr2:49123588-49229962)x1	FSHR	Copy number loss	not provided	GUncertain significance
Select item 685315	GRCh37/hg19 2p16.3(chr2:49016672-49229962)x1	FSHR	Copy number loss	not provided	GPathogenic
Select item 255349	NM_000145.4(FSHR):c.594-45T>C	FSHR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 153329	GRCh38/hg38 2p16.3(chr2:49069256-49563249)x1	FSHR	Copy number loss	See cases	GUncertain significance
Select item 152939	GRCh38/hg38 2p16.3(chr2:49072029-49554569)x1	FSHR	Copy number loss	See cases	GUncertain significance
Select item 149065	GRCh38/hg38 2p16.3(chr2:49089770-49360262)x1	FSHR	Copy number loss	See cases	GUncertain significance
Select item 56034	NM_000145.4(FSHR):c.671A>T (p.Asp224Val)	FSHR (D198V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 56033	NM_000145.4(FSHR):c.662T>G (p.Val221Gly)	FSHR (V195G +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 56032	NM_000145.4(FSHR):c.1801C>G (p.Leu601Val)	FSHR (L575V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 56031	NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)	FSHR (A549V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 56030	NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)	FSHR (P322R +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic

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Links from Gene

Items: 27