"GeneDx"[submitter] AND "SNHG22"[gene] - ClinVar

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326990	NM_001080467.3(MYO5B):c.*308C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326995	NM_001080467.3(MYO5B):c.*109del	MYO5B, SNHG22	Deletion (3 prime UTR variant)	Diarrhea with Microvillus Atrophy +1 more	GBenign
Select item 326998	NM_001080467.3(MYO5B):c.5433A>C (p.Leu1811=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1280926	NM_001080467.3(MYO5B):c.5394+116G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232260	NM_001080467.3(MYO5B):c.5314-166C>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245699	NM_001080467.3(MYO5B):c.5313+201A>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278709	NM_001080467.3(MYO5B):c.5313+72G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278056	NM_001080467.3(MYO5B):c.4853-320G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2172136	NM_001080467.3(MYO5B):c.4844C>T (p.Pro1615Leu)	MYO5B, SNHG22 (P1615L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620180	NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter)	MYO5B, SNHG22 (E1589*)	Single nucleotide variant (nonsense)	Congenital microvillous atrophy +1 more	GConflicting classifications of pathogenicity
Select item 1287270	NM_001080467.3(MYO5B):c.4701+199G>C	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314692	NM_001080467.3(MYO5B):c.4664G>A (p.Arg1555His)	MYO5B, SNHG22 (R1555H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 327010	NM_001080467.3(MYO5B):c.4464G>A (p.Leu1488=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1238843	NM_001080467.3(MYO5B):c.4460-25C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295099	NM_001080467.3(MYO5B):c.4459+252G>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272628	NM_001080467.3(MYO5B):c.4459+50C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327014	NM_001080467.3(MYO5B):c.4315+5G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1516752	NM_001080467.3(MYO5B):c.4271A>G (p.Lys1424Arg)	LOC126862745, MYO5B +1 more (K1424R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246653	NM_001080467.3(MYO5B):c.4222-73G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1246590	NM_001080467.3(MYO5B):c.4222-98T>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1265014	NM_001080467.3(MYO5B):c.4222-132C>T	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 21