Related gene-specific medical variations for Gene (Select 6638) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384467	NM_003097.6(SNRPN):c.328G>A (p.Ala110Thr)	SNHG14, SNRPN +1 more (A102T +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3365038	NM_003097.6(SNRPN):c.698C>T (p.Pro233Leu)	SNHG14, SNRPN +1 more (P145L +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 3352887	NM_003097.6(SNRPN):c.408A>T (p.Gly136=)	SNHG14, SNRPN +1 more	Single nucleotide variant (synonymous variant +2 more)	SNRPN-related condition	GBenign
Select item 3342817	NM_003097.6(SNRPN):c.647C>T (p.Pro216Leu)	SNHG14, SNRPN +1 more (P128L +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3337606	NM_003097.6(SNRPN):c.556C>T (p.Pro186Ser)	SNHG14, SNRPN +1 more (P178S +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3321208	NM_003097.6(SNRPN):c.283G>A (p.Val95Ile)	SNHG14, SNRPN +1 more (V87I +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3233522	NM_003097.6(SNRPN):c.3+6C>G	SNHG14, SNRPN +1 more	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3167118	NM_001394334.1(SNURF):c.52G>A (p.Val18Ile)	SNHG14, SNRPN +1 more (V18I)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3167117	NM_001394334.1(SNURF):c.154G>A (p.Val52Met)	SNHG14, SNRPN +1 more (V52M)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3167060	NM_003097.6(SNRPN):c.607A>G (p.Ile203Val)	SNHG14, SNRPN +1 more (I203V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2690052	NM_003097.6(SNRPN):c.637A>G (p.Ile213Val)	SNHG14, SNRPN +1 more (I125V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2671603	Single allele	SNRPN	Deletion	not provided	GUncertain significance
Select item 2662357	NM_003097.6(SNRPN):c.385G>T (p.Gly129Cys)	SNHG14, SNRPN +1 more (G121C +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2645011	NM_003097.6(SNRPN):c.483T>C (p.Ile161=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2507138	NM_003097.6(SNRPN):c.324G>T (p.Arg108Ser)	SNHG14, SNRPN +1 more (R100S +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2485142	NM_003097.6(SNRPN):c.698C>A (p.Pro233Gln)	SNHG14, SNRPN +1 more (P233Q +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2396609	NM_001394334.1(SNURF):c.129G>C (p.Arg43Ser)	SNHG14, SNRPN +1 more (R43S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2308312	NM_003097.6(SNRPN):c.316G>A (p.Val106Ile)	SNHG14, SNRPN +1 more (V98I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300646	NM_001394334.1(SNURF):c.209G>A (p.Gly70Asp)	SNHG14, SNRPN +1 more (G70D)	Single nucleotide variant (5 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 2249559	NM_001394334.1(SNURF):c.143A>G (p.Gln48Arg)	SNHG14, SNRPN +1 more (Q48R)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2215018	NM_001394334.1(SNURF):c.130C>T (p.Arg44Cys)	SNHG14, SNRPN +1 more (R44C)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 1806525	NM_003097.6(SNRPN):c.259C>T (p.Pro87Ser)	SNHG14, SNRPN +1 more (P79S +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1803411	NM_003097.6(SNRPN):c.66A>C (p.Gln22His)	SNHG14, SNRPN +1 more (Q14H +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1698151	NM_003097.6(SNRPN):c.481A>G (p.Ile161Val)	SNHG14, SNRPN +1 more (I153V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1697252	NM_022807.5(SNRPN):c.-390-9497_-390-228del	SNHG14, SNRPN +1 more	Deletion (intron variant +2 more)	Prader-Willi syndrome	GPathogenic
Select item 1314780	NM_003097.6(SNRPN):c.515G>A (p.Arg172Gln)	SNHG14, SNRPN +1 more (R164Q +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1311932	NM_003097.6(SNRPN):c.293C>A (p.Ala98Asp)	SNHG14, SNRPN +1 more (A102D +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1309470	NM_003097.6(SNRPN):c.712C>T (p.Pro238Ser)	SNHG14, SNRPN +1 more (P230S +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1308487	NM_003097.6(SNRPN):c.182G>A (p.Arg61His)	SNHG14, SNRPN +1 more (R53H +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1300832	NM_003097.6(SNRPN):c.260C>T (p.Pro87Leu)	SNHG14, SNRPN +1 more (P79L +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1300478	NM_003097.6(SNRPN):c.676G>C (p.Gly226Arg)	SNHG14, SNRPN +1 more (G218R +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 791191	NM_003097.6(SNRPN):c.363C>A (p.Pro121=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign/Likely benign
Select item 787956	NM_003097.6(SNRPN):c.534C>T (p.Pro178=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 764921	NM_003097.6(SNRPN):c.168G>A (p.Ala56=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 737988	NM_003097.6(SNRPN):c.462T>A (p.Ala154=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 735482	NM_003097.6(SNRPN):c.525G>A (p.Pro175=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 727390	NM_003097.6(SNRPN):c.261C>G (p.Pro87=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 724361	NM_003097.6(SNRPN):c.267T>C (p.Asp89=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GBenign
Select item 723490	NM_003097.6(SNRPN):c.624T>G (p.Ala208=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 686868	GRCh37/hg19 15q11.2(chr15:25036635-25087425)x1	SNRPN	Copy number loss	not provided	GUncertain significance
Select item 684912	GRCh37/hg19 15q11.2(chr15:25037505-25087425)x1	SNRPN	Copy number loss	not provided	GUncertain significance
Select item 446004	NM_003097.6(SNRPN):c.685+14T>G	SNHG14, SNRPN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426452	NM_003097.6(SNRPN):c.452C>T (p.Ala151Val)	SNHG14, SNRPN +1 more (A151V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	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
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 315452	NM_003097.6(SNRPN):c.183T>C (p.Arg61=)	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
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 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 315449	NM_003097.6(SNRPN):c.-39G>A	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GLikely 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 315447	NM_003097.6(SNRPN):c.-89T>C	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder +1 more	GBenign/Likely benign
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 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 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 315443	NM_003097.6(SNRPN):c.-274G>A	SNHG14, SNRPN +1 more (R44H)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified +1 more	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 315441	NM_003097.6(SNRPN):c.-295+8C>G	SNHG14, SNRPN +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 315440	NM_003097.6(SNRPN):c.-378C>T	SNHG14, SNRPN +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315439	NM_003097.6(SNRPN):c.-380C>T	SNHG14, SNRPN +1 more (H9Y)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified +1 more	GUncertain significance
Select item 315438	NM_003097.6(SNRPN):c.-386C>T	SNHG14, SNRPN +1 more (R7C)	Single nucleotide variant (non-coding transcript variant +3 more)	Autism spectrum disorder	GUncertain significance
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 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 315435	NM_022807.5(SNRPN):c.-579+5G>A	SNHG14, SNRPN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 315433	NM_022807.5(SNRPN):c.-596del	SNHG14, SNRPN	Deletion (non-coding transcript variant +2 more)	Autism spectrum disorder	GUncertain significance
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 315431	NM_022807.5(SNRPN):c.-672T>C	SNHG14, SNRPN	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
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 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 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 154654	GRCh38/hg38 15q11.2(chr15:24888564-24931279)x1	SNHG14, SNRPN	Copy number loss	See cases	GUncertain significance
Select item 149914	GRCh38/hg38 15q11.2(chr15:24833260-24869217)x1	LOC112272579, SNHG14 +1 more	Copy number loss	See cases	GBenign
Select item 149498	GRCh38/hg38 15q11.2(chr15:24823754-24837359)x1	SNHG14, SNRPN	Copy number loss	See cases	GBenign/Likely benign
Select item 144330	GRCh38/hg38 15q11.2(chr15:24823779-24829799)x1	SNHG14, SNRPN	Copy number loss	See cases	GUncertain significance
Select item 59843	GRCh38/hg38 15q11.2(chr15:24847126-24862220)x1	LOC112272579, SNHG14 +1 more	Copy number loss	See cases	GBenign
Select item 59842	GRCh38/hg38 15q11.2(chr15:24847126-24862220)x3	LOC112272579, SNHG14 +1 more	Copy number gain	See cases	GBenign
Select item 57842	GRCh38/hg38 15q11.2(chr15:24873776-24921819)x1	SNHG14, SNRPN	Copy number loss	See cases	GPathogenic
Select item 57117	GRCh38/hg38 15q11.2(chr15:24847127-24863718)x1	LOC112272579, SNHG14 +1 more	Copy number loss	See cases	GBenign

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Items: 78