Related gene-specific medical variations for Gene (Select 3643) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341127	NM_000208.4(INSR):c.1588T>G (p.Phe530Val)	INSR (F530V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977178	NM_000208.4(INSR):c.63G>T (p.Leu21=)	INSR, LOC130063353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791072	NM_000208.4(INSR):c.62T>C (p.Leu21Pro)	INSR, LOC130063353 (L21P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770673	NM_000208.4(INSR):c.84C>G (p.His28Gln)	LOC130063353, INSR (H28Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627891	NM_000208.4(INSR):c.2810C>T (p.Thr937Met)	INSR (T925M +1 more)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GLikely pathogenic
Select item 2627890	NM_000208.4(INSR):c.1610+1G>A	INSR	Single nucleotide variant (splice donor variant)	Leprechaunism syndrome	GLikely pathogenic
Select item 1901255	NM_000208.4(INSR):c.100+16C>T	INSR, LOC130063353	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811481	NM_000208.4(INSR):c.2774T>C (p.Ile925Thr)	INSR (I913T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 811480	NM_000208.4(INSR):c.728G>A (p.Cys243Tyr)	INSR (C243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808657	GRCh37/hg19 19p13.2(chr19:7184327-7184648)x1	INSR	Copy number loss	not provided	GUncertain significance
Select item 691357	NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)	INSR (A1110T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 592010	NM_000208.4(INSR):c.2384_2387dup (p.Pro797fs)	INSR (P797fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591709	NM_000208.4(INSR):c.307T>C (p.Phe103Leu)	INSR (F103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591584	NM_000208.4(INSR):c.101-1G>A	INSR	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 393296	NM_000208.4(INSR):c.3160G>A (p.Val1054Met)	INSR (V1054M +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393295	NM_000208.4(INSR):c.2997T>G (p.Tyr999Ter)	INSR (Y999* +1 more)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393294	NM_000208.4(INSR):c.2525C>T (p.Ala842Val)	INSR (A842V +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393293	NM_000208.4(INSR):c.2504G>T (p.Ser835Ile)	INSR (S835I +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393292	NM_000208.4(INSR):c.1969G>T (p.Val657Phe)	INSR (V657F)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393291	NM_000208.4(INSR):c.1465A>G (p.Asn489Asp)	INSR (N489D)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393290	NM_000208.4(INSR):c.766C>T (p.Arg256Cys)	INSR (R256C)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 393289	NG_008852.1:g.8170_32961del24792	INSR	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 330365	NM_000208.4(INSR):c.*3541C>T	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330364	NM_000208.4(INSR):c.*3592A>G	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 330363	NM_000208.4(INSR):c.*3623A>G	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 330362	NM_000208.4(INSR):c.*3654G>A	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330361	NM_000208.4(INSR):c.*3685T>C	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 211199	NM_000208.4(INSR):c.84C>A (p.His28Gln)	INSR, LOC130063353 (H28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14685	INSR, EX17, ALU	INSR	Insertion	Insulin-resistant diabetes mellitus AND acanthosis nigricans	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: 29