SNRNP35[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	CDK2AP1, KMT5A +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 2530316	NM_022717.4(SNRNP35):c.1A>G (p.Met1Val)	SNRNP35 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167014	NM_022717.4(SNRNP35):c.30G>C (p.Glu10Asp)	SNRNP35 (E10D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279887	NM_022717.4(SNRNP35):c.86G>A (p.Arg29His)	SNRNP35 (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545231	NM_022717.4(SNRNP35):c.88G>A (p.Ala30Thr)	SNRNP35 (A30T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204034	NM_022717.4(SNRNP35):c.89C>T (p.Ala30Val)	SNRNP35 (A30V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204657	NM_022717.4(SNRNP35):c.221A>G (p.Tyr74Cys)	SNRNP35 (Y74C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321200	NM_022717.4(SNRNP35):c.308G>A (p.Arg103His)	SNRNP35 (R103H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643511	NM_022717.4(SNRNP35):c.321A>G (p.Lys107=)	SNRNP35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3321201	NM_022717.4(SNRNP35):c.391A>G (p.Thr131Ala)	SNRNP35 (T136A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322663	NM_022717.4(SNRNP35):c.482C>G (p.Pro161Arg)	SNRNP35 (P166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252018	NM_022717.4(SNRNP35):c.488G>A (p.Arg163Gln)	SNRNP35 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294737	NM_022717.4(SNRNP35):c.508G>A (p.Val170Ile)	SNRNP35 (V170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167015	NM_022717.4(SNRNP35):c.527A>T (p.Tyr176Phe)	SNRNP35 (Y176F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476398	NM_022717.4(SNRNP35):c.542G>A (p.Arg181Gln)	SNRNP35 (R181Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507773	NM_022717.4(SNRNP35):c.569G>A (p.Arg190Gln)	SNRNP35 (R190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167017	NM_022717.4(SNRNP35):c.587C>T (p.Ser196Leu)	SNRNP35 (S201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167016	NM_022717.4(SNRNP35):c.587C>G (p.Ser196Trp)	SNRNP35 (S196W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468289	NM_022717.4(SNRNP35):c.619C>T (p.Arg207Trp)	SNRNP35 (R212W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167018	NM_022717.4(SNRNP35):c.647C>T (p.Pro216Leu)	SNRNP35 (P216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167020	NM_022717.4(SNRNP35):c.673T>G (p.Trp225Gly)	SNRNP35 (W230G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154304	NM_178314.5(RILPL1):c.1163G>A (p.Arg388His)	RILPL1, SNRNP35 (R237H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3154303	NM_178314.5(RILPL1):c.1132G>A (p.Glu378Lys)	RILPL1, SNRNP35 (E378K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2223000	NM_178314.5(RILPL1):c.1085G>A (p.Arg362Gln)	RILPL1, SNRNP35 (R211Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2293391	NM_178314.5(RILPL1):c.1078T>C (p.Phe360Leu)	RILPL1, SNRNP35 (F209L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3063249	GRCh37/hg19 12q24.31(chr12:123586597-124015352)x3	CDK2AP1, KMT5A +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063242	GRCh37/hg19 12q24.31(chr12:123651965-124044014)x3	CDK2AP1, KMT5A +6 more	Copy number gain	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1340887	GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	AACS, ATP6V0A2 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 980994	GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 689203	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 689202	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 689201	GRCh37/hg19 12q24.31(chr12:123708501-124052117)x3	CDK2AP1, KMT5A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 563927	GRCh37/hg19 12q24.31(chr12:123708136-123981696)x3	SBNO1, SNRNP35 +5 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 393745	GRCh37/hg19 12q24.31(chr12:123651149-123944378)x3	CDK2AP1, KMT5A +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 226223	GRCh37/hg19 12q24.31(chr12:123596909-123989546)	SBNO1, MTRFR +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 57