Related gene-specific medical variations for Gene (Select 10681) - ClinVar

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

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614063	NM_016194.4(GNB5):c.176G>T (p.Ser59Ile)	GNB5, LOC130057083 (S59I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471293	NM_016194.4(GNB5):c.14C>T (p.Thr5Ile)	CERNA1, GNB5 (T5I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460379	NM_016194.4(GNB5):c.164C>T (p.Ala55Val)	GNB5, LOC130057083 (A13V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307129	NM_016194.4(GNB5):c.26A>G (p.Asn9Ser)	CERNA1, GNB5 (N9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326436	NM_016194.4(GNB5):c.61C>T (p.Arg21Ter)	CERNA1, GNB5 (R21*)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1284059	NM_016194.4(GNB5):c.-18-319G>A	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277738	NM_016194.4(GNB5):c.127-197C>G	CERNA1, GNB5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277164	NM_016194.4(GNB5):c.126+268G>T	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270209	NM_016194.4(GNB5):c.238+269del	GNB5, LOC130057083	Deletion (intron variant)	not provided	GBenign
Select item 1247959	NM_016194.4(GNB5):c.127-44A>G	GNB5, LOC130057083	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1247171	NM_016194.4(GNB5):c.238+269T>C	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244293	NM_016194.4(GNB5):c.-65T>C	CERNA1, GNB5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1235093	NM_016194.4(GNB5):c.-18-270A>G	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218201	NM_016194.4(GNB5):c.127-384G>C	CERNA1, GNB5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1213395	NM_016194.4(GNB5):c.-18-311T>C	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209531	NM_016194.4(GNB5):c.238+154G>C	GNB5, LOC130057083	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1199120	NM_016194.4(GNB5):c.238+265G>T	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194949	NM_016194.4(GNB5):c.127-340C>A	CERNA1, GNB5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1193655	NM_016194.4(GNB5):c.238+207G>A	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188787	NM_016194.4(GNB5):c.165G>T (p.Ala55=)	GNB5, LOC130057083	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 974697	NM_016194.4(GNB5):c.391G>A (p.Val131Met)	GNB5 (V37M +2 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 770786	NM_016194.4(GNB5):c.22G>A (p.Val8Ile)	CERNA1, GNB5 (V8I)	Single nucleotide variant (missense variant)	GNB5-related disorder +2 more	GLikely benign
Select item 738881	NM_016194.4(GNB5):c.90T>C (p.Ser30=)	CERNA1, GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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: 23