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

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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)	Inborn genetic diseases +1 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

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Links from Gene

Items: 23