ClinVar for Gene (Select 6628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359369	NM_003091.4(SNRPB):c.217C>G (p.Arg73Gly)	SNRPB (R73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344744	NM_003091.4(SNRPB):c.*137G>T	SNRPB	Single nucleotide variant (3 prime UTR variant +1 more)	SNRPB-related disorder	GUncertain significance
Select item 3337605	NM_003091.4(SNRPB):c.171A>T (p.Lys57Asn)	SNRPB (K57N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252718	NM_003091.4(SNRPB):c.267+5G>A	SNRPB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3235903	NM_003091.4(SNRPB):c.267+4dup	SNRPB	Duplication (intron variant)	Cerebro-costo-mandibular syndrome	GLikely pathogenic
Select item 3167049	NM_003091.4(SNRPB):c.616C>T (p.Pro206Ser)	SNRPB (P206S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046434	NM_003091.4(SNRPB):c.30G>A (p.Leu10=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045960	NM_003091.4(SNRPB):c.451dup (p.Ala151fs)	SNRPB (A151fs)	Duplication (frameshift variant)	SNRPB-related disorder	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +114 more	Copy number gain	not provided	GPathogenic
Select item 3021745	NM_003091.4(SNRPB):c.123C>T (p.Ile41=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006395	NM_003091.4(SNRPB):c.3+18T>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005022	NM_003091.4(SNRPB):c.526C>T (p.Pro176Ser)	SNRPB (P176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000344	NM_003091.4(SNRPB):c.359T>C (p.Met120Thr)	SNRPB (M120T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999921	NM_003091.4(SNRPB):c.245T>C (p.Val82Ala)	SNRPB (V82A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999304	NM_003091.4(SNRPB):c.559+12A>G	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994190	NM_003091.4(SNRPB):c.156-15dup	SNRPB	Duplication (intron variant)	not provided	GLikely benign
Select item 2971389	NM_003091.4(SNRPB):c.559+10C>G	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967024	NM_003091.4(SNRPB):c.155+13C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966880	NM_003091.4(SNRPB):c.420+13G>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959802	NM_003091.4(SNRPB):c.456C>T (p.Ala152=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915207	NM_003091.4(SNRPB):c.405C>T (p.Gly135=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900718	NM_003091.4(SNRPB):c.193C>A (p.Arg65=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889878	NM_003091.4(SNRPB):c.76A>G (p.Ile26Val)	SNRPB (I26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887890	NM_003091.4(SNRPB):c.112A>G (p.Met38Val)	SNRPB (M38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887279	NM_003091.4(SNRPB):c.303C>T (p.Ala101=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874115	NM_003091.4(SNRPB):c.4-7C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868368	NM_003091.4(SNRPB):c.685+4A>G	SNRPB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2809297	NM_003091.4(SNRPB):c.421-6T>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801551	NM_003091.4(SNRPB):c.535A>G (p.Met179Val)	SNRPB (M179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755605	NM_003091.4(SNRPB):c.651T>C (p.Pro217=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745688	NM_003091.4(SNRPB):c.206T>C (p.Leu69Pro)	SNRPB (L69P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718666	NM_003091.4(SNRPB):c.171A>G (p.Lys57=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2501333	NM_003091.4(SNRPB):c.73C>T (p.Arg25Trp)	SNRPB (R25W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2436217	NM_003091.4(SNRPB):c.457G>A (p.Ala153Thr)	SNRPB (A153T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2427639	NC_000020.10:g.(?_2375078)_(2443893_?)dup	SNRPB, TGM6	Duplication	not provided	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2420317	NM_003091.4(SNRPB):c.560-4G>A	SNRPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2417937	NM_003091.4(SNRPB):c.560-3C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2416997	NM_003091.4(SNRPB):c.356C>T (p.Pro119Leu)	SNRPB (P119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415781	NM_003091.4(SNRPB):c.52A>C (p.Arg18=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413043	NM_003091.4(SNRPB):c.621del (p.Gly208fs)	SNRPB (G208fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2266477	NM_003091.4(SNRPB):c.*144C>A	SNRPB (P232T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2192340	NM_003091.4(SNRPB):c.559+8G>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182814	NM_003091.4(SNRPB):c.267T>C (p.Asp89=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2177064	NM_003091.4(SNRPB):c.*148C>T	SNRPB (P233L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2130889	NM_003091.4(SNRPB):c.549A>G (p.Ala183=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127395	NM_003091.4(SNRPB):c.607A>T (p.Met203Leu)	SNRPB (M203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125278	NM_003091.4(SNRPB):c.4-11_4-5del	SNRPB	Deletion (intron variant)	not provided	GLikely benign
Select item 2123257	NM_003091.4(SNRPB):c.468T>C (p.Ala156=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113746	NM_003091.4(SNRPB):c.421-20_421-19del	SNRPB	Deletion (intron variant)	not provided	GLikely benign
Select item 2110205	NM_003091.4(SNRPB):c.138T>G (p.Asp46Glu)	SNRPB (D46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109470	NM_003091.4(SNRPB):c.*148C>G	SNRPB (P233R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2092554	NM_003091.4(SNRPB):c.570C>T (p.Gly190=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079625	NM_003091.4(SNRPB):c.176C>G (p.Ala59Gly)	SNRPB (A59G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032697	NM_003091.4(SNRPB):c.*151dup	SNRPB (M235fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2020781	NM_003091.4(SNRPB):c.155+11G>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008378	NM_003091.4(SNRPB):c.685+17G>A	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006681	NM_003091.4(SNRPB):c.267+10A>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1999068	NM_003091.4(SNRPB):c.515G>A (p.Arg172His)	SNRPB (R172H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987055	NM_003091.4(SNRPB):c.*162C>T	SNRPB (P238S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1967784	NM_003091.4(SNRPB):c.363C>A (p.Pro121=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960028	NM_003091.4(SNRPB):c.490G>C (p.Ala164Pro)	SNRPB (A164P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954425	NM_003091.4(SNRPB):c.653C>T (p.Pro218Leu)	SNRPB (P218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954104	NM_003091.4(SNRPB):c.131A>C (p.Asp44Ala)	SNRPB (D44A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952243	NM_003091.4(SNRPB):c.423G>A (p.Val141=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951777	NM_003091.4(SNRPB):c.498C>A (p.Thr166=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931820	NM_003091.4(SNRPB):c.108G>A (p.Lys36=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923057	NM_003091.4(SNRPB):c.126C>G (p.Leu42=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910663	NM_003091.4(SNRPB):c.155+16T>G	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909313	NM_003091.4(SNRPB):c.530C>G (p.Pro177Arg)	SNRPB (P177R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903396	NM_003091.4(SNRPB):c.421-15_421-13del	SNRPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1901390	NM_003091.4(SNRPB):c.530C>A (p.Pro177Gln)	SNRPB (P177Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1898711	NM_003091.4(SNRPB):c.*144C>T	SNRPB (P232S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1896315	NM_003091.4(SNRPB):c.421-19_421-16del	SNRPB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1654043	NM_003091.4(SNRPB):c.*149G>A	SNRPB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1652132	NM_003091.4(SNRPB):c.252A>G (p.Gly84=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624741	NM_003091.4(SNRPB):c.560-19T>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615273	NM_003091.4(SNRPB):c.54G>A (p.Arg18=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602264	NM_003091.4(SNRPB):c.486C>T (p.Ala162=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567468	NM_003091.4(SNRPB):c.267+2_267+6dup	SNRPB	Duplication (splice donor variant)	not provided	GLikely benign
Select item 1548722	NM_003091.4(SNRPB):c.420+20G>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547964	NM_003091.4(SNRPB):c.155+7A>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1525765	NM_003091.4(SNRPB):c.*156C>T	SNRPB (R236C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1522644	NM_003091.4(SNRPB):c.400G>A (p.Val134Ile)	SNRPB (V134I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512600	NM_003091.4(SNRPB):c.572C>A (p.Pro191Gln)	SNRPB (P191Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511729	NM_003091.4(SNRPB):c.654G>A (p.Pro218=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496026	NM_003091.4(SNRPB):c.526C>G (p.Pro176Ala)	SNRPB (P176A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490179	NM_003091.4(SNRPB):c.286C>A (p.Pro96Thr)	SNRPB (P96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486374	NM_003091.4(SNRPB):c.214C>T (p.Leu72=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464276	NM_003091.4(SNRPB):c.289C>A (p.Leu97Ile)	SNRPB (L97I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450576	NM_003091.4(SNRPB):c.5C>T (p.Thr2Met)	SNRPB (T2M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446806	NM_003091.4(SNRPB):c.51G>A (p.Met17Ile)	SNRPB (M17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421681	NM_003091.4(SNRPB):c.615C>G (p.Ile205Met)	SNRPB (I205M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382983	NM_003091.4(SNRPB):c.530C>T (p.Pro177Leu)	SNRPB (P177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375950	NM_003091.4(SNRPB):c.443G>A (p.Gly148Asp)	SNRPB (G148D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287398	NM_003091.4(SNRPB):c.155+245C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GBenign

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