"Illumina Laboratory Services, Illumina"[submitter] AND "SNHG14"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315428	NM_022807.5(SNRPN):c.-841T>A	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 315429	NM_022807.5(SNRPN):c.-823T>C	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 315430	NM_022807.5(SNRPN):c.-819C>A	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 315431	NM_022807.5(SNRPN):c.-672T>C	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GLikely benign
Select item 315432	NM_022807.5(SNRPN):c.-636C>A	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 315433	NM_022807.5(SNRPN):c.-596del	SNHG14, SNRPN	Deletion (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 315434	NM_022807.5(SNRPN):c.-584A>G	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 315435	NM_022807.5(SNRPN):c.-579+5G>A	SNHG14, SNRPN	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely benign
Select item 315436	NM_022807.5(SNRPN):c.-569C>T	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GLikely benign
Select item 315437	NM_022807.5(SNRPN):c.-504-12T>C	SNHG14, SNRPN	Single nucleotide variant (intron variant)	Autism spectrum disorder	GUncertain significance
Select item 315438	NM_003097.6(SNRPN):c.-386C>T	SNHG14, SNRPN +1 more (R7C)	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 315439	NM_003097.6(SNRPN):c.-380C>T	SNHG14, SNRPN +1 more (H9Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 315440	NM_003097.6(SNRPN):c.-378C>T	SNHG14, SNRPN +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 315441	NM_003097.6(SNRPN):c.-295+8C>G	SNHG14, SNRPN +1 more	Single nucleotide variant (intron variant)	Autism spectrum disorder	GUncertain significance
Select item 315442	NM_003097.6(SNRPN):c.-280C>T	SNHG14, SNRPN +1 more (P42L)	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GUncertain significance
Select item 315443	NM_003097.6(SNRPN):c.-274G>A	SNHG14, SNRPN +1 more (R44H)	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder +1 more	GUncertain significance
Select item 315444	NM_003097.6(SNRPN):c.-262A>T	SNHG14, SNRPN +1 more (Q48L)	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GUncertain significance
Select item 315445	NM_003097.6(SNRPN):c.-143-6C>T	SNHG14, SNRPN +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 315446	NM_003097.6(SNRPN):c.-110T>G	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GUncertain significance
Select item 315447	NM_003097.6(SNRPN):c.-89T>C	SNHG14, SNRPN +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 315448	NM_003097.6(SNRPN):c.-86G>A	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GUncertain significance
Select item 315449	NM_003097.6(SNRPN):c.-39G>A	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GLikely benign
Select item 315450	NM_003097.6(SNRPN):c.-20G>T	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GUncertain significance
Select item 315451	NM_003097.6(SNRPN):c.3+10A>G	SNHG14, SNRPN +1 more	Single nucleotide variant (intron variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 315452	NM_003097.6(SNRPN):c.183T>C (p.Arg61=)	SNHG14, SNRPN +1 more	Single nucleotide variant (synonymous variant +3 more)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 315453	NM_003097.6(SNRPN):c.421-5C>T	SNHG14, SNRPN +1 more	Single nucleotide variant (intron variant)	Autism spectrum disorder	GUncertain significance
Select item 315454	NM_003097.6(SNRPN):c.524C>T (p.Pro175Leu)	SNHG14, SNRPN +1 more (P175L +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance

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Items: 27