OXTR[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303782	NM_000916.4(OXTR):c.1163C>T (p.Thr388Met)	OXTR (T388M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303783	NM_000916.4(OXTR):c.1132T>C (p.Ser378Pro)	OXTR (S378P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723037	NM_000916.4(OXTR):c.1104G>A (p.Ser368=)	OXTR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715951	NM_000916.4(OXTR):c.1068C>A (p.Arg356=)	OXTR	Single nucleotide variant (synonymous variant)	OXTR-related disorder +1 more	GBenign
Select item 3207604	NM_000916.4(OXTR):c.1066C>T (p.Arg356Cys)	OXTR (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601018	NM_000916.4(OXTR):c.1051T>C (p.Tyr351His)	OXTR (Y351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408174	NM_000916.4(OXTR):c.1021G>A (p.Val341Met)	OXTR (V341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770883	NM_000916.4(OXTR):c.1015G>A (p.Glu339Lys)	OXTR (E339K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3303784	NM_000916.4(OXTR):c.967T>G (p.Cys323Gly)	OXTR (C323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618287	NM_000916.4(OXTR):c.904G>A (p.Ala302Thr)	OXTR (A302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275484	NM_000916.4(OXTR):c.881T>A (p.Val294Glu)	OXTR (V294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399613	NM_000916.4(OXTR):c.791A>G (p.Lys264Arg)	OXTR (K264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207608	NM_000916.4(OXTR):c.751G>A (p.Asp251Asn)	OXTR (D251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037365	NM_000916.4(OXTR):c.712G>A (p.Ala238Thr)	OXTR (A238T)	Single nucleotide variant (missense variant)	OXTR-related disorder	GBenign
Select item 754229	NM_000916.4(OXTR):c.705C>A (p.Thr235=)	OXTR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058957	NM_000916.4(OXTR):c.690C>T (p.Asn230=)	OXTR	Single nucleotide variant (synonymous variant)	OXTR-related disorder	GBenign
Select item 1221201	NM_000916.4(OXTR):c.652G>A (p.Ala218Thr)	OXTR (A218T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2591159	NM_000916.4(OXTR):c.643G>C (p.Val215Leu)	OXTR (V215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790525	NM_000916.4(OXTR):c.616C>G (p.Leu206Val)	OXTR (L206V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2474020	NM_000916.4(OXTR):c.541G>T (p.Ala181Ser)	OXTR (A181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371796	NM_000916.4(OXTR):c.538G>C (p.Val180Leu)	OXTR (V180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767884	NM_000916.4(OXTR):c.515T>C (p.Val172Ala)	OXTR (V172A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3048278	NM_000916.4(OXTR):c.510G>T (p.Pro170=)	OXTR	Single nucleotide variant (synonymous variant)	OXTR-related disorder	GLikely benign
Select item 3251885	NM_000916.4(OXTR):c.409C>A (p.Arg137Ser)	OXTR (R137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546161	NM_000916.4(OXTR):c.399G>A (p.Met133Ile)	OXTR (M133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726143	NM_000916.4(OXTR):c.360G>T (p.Val120=)	OXTR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780372	NM_000916.4(OXTR):c.351C>T (p.Tyr117=)	OXTR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207606	NM_000916.4(OXTR):c.298G>A (p.Asp100Asn)	OXTR (D100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303785	NM_000916.4(OXTR):c.202C>G (p.Arg68Gly)	OXTR (R68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207605	NM_000916.4(OXTR):c.202C>T (p.Arg68Cys)	OXTR (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545720	NM_000916.4(OXTR):c.172G>T (p.Ala58Ser)	OXTR (A58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056090	NM_000916.4(OXTR):c.159G>A (p.Ala53=)	OXTR	Single nucleotide variant (synonymous variant)	OXTR-related disorder	GLikely benign
Select item 809410	NM_000916.4(OXTR):c.65G>A (p.Gly22Glu)	OXTR (G22E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385519	NM_000916.4(OXTR):c.56C>T (p.Ala19Val)	OXTR (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34