CERNA1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 2665011	GRCh38/hg38 15q21.2(chr15:52095744-52533191)	LOC130057077, LOC130057078 +23 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 1277164	NM_016194.4(GNB5):c.126+268G>T	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738881	NM_016194.4(GNB5):c.90T>C (p.Ser30=)	CERNA1, GNB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 1235093	NM_016194.4(GNB5):c.-18-270A>G	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213395	NM_016194.4(GNB5):c.-18-311T>C	CERNA1, GNB5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284059	NM_016194.4(GNB5):c.-18-319G>A	CERNA1, GNB5	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 2613756	NM_018728.4(MYO5C):c.5188A>G (p.Ile1730Val)	CERNA1, MYO5C (I1730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558529	NM_018728.4(MYO5C):c.5161T>C (p.Ser1721Pro)	CERNA1, MYO5C (S1721P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266974	NM_018728.4(MYO5C):c.5093G>A (p.Arg1698Gln)	CERNA1, MYO5C (R1698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548041	NM_018728.4(MYO5C):c.5068A>C (p.Lys1690Gln)	CERNA1, MYO5C (K1690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165623	NM_018728.4(MYO5C):c.4958A>G (p.Glu1653Gly)	CERNA1, MYO5C (E1653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309730	NM_018728.4(MYO5C):c.4750G>C (p.Gly1584Arg)	CERNA1, MYO5C (G1584R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384289	NM_018728.4(MYO5C):c.4719G>T (p.Arg1573Ser)	CERNA1, MYO5C (R1573S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165610	NM_018728.4(MYO5C):c.4686G>C (p.Met1562Ile)	CERNA1, MYO5C (M1562I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2244284	NM_018728.4(MYO5C):c.4633G>A (p.Gly1545Ser)	CERNA1, MYO5C (G1545S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3297902	NM_018728.4(MYO5C):c.4628C>G (p.Thr1543Arg)	CERNA1, MYO5C (T1543R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165608	NM_018728.4(MYO5C):c.4553A>C (p.Glu1518Ala)	CERNA1, MYO5C (E1518A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258307	NM_018728.4(MYO5C):c.4541C>T (p.Pro1514Leu)	CERNA1, MYO5C (P1514L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3297906	NM_018728.4(MYO5C):c.4489T>C (p.Tyr1497His)	CERNA1, MYO5C (Y1497H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 31