SNRPB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 1248095	NC_000020.11:g.2461627C>A	SNRPB	Single nucleotide variant	not provided	GBenign
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 717276	NM_003091.4(SNRPB):c.*157G>A	SNRPB (R236H)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2032697	NM_003091.4(SNRPB):c.*151dup	SNRPB (M235fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 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 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 1898711	NM_003091.4(SNRPB):c.*144C>T	SNRPB (P232S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451716	NM_003091.4(SNRPB):c.*139C>T	SNRPB (P230L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1248360	NM_003091.4(SNRPB):c.685+166C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2008378	NM_003091.4(SNRPB):c.685+17G>A	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 1511729	NM_003091.4(SNRPB):c.654G>A (p.Pro218=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2755605	NM_003091.4(SNRPB):c.651T>C (p.Pro217=)	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 3167049	NM_003091.4(SNRPB):c.616C>T (p.Pro206Ser)	SNRPB (P206S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 769063	NM_003091.4(SNRPB):c.612G>A (p.Gly204=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 289467	NM_003091.4(SNRPB):c.607A>G (p.Met203Val)	SNRPB (M203V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737158	NM_003091.4(SNRPB):c.604C>T (p.Pro202Ser)	SNRPB (P202S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2092554	NM_003091.4(SNRPB):c.570C>T (p.Gly190=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981739	NM_003091.4(SNRPB):c.560-1G>T	SNRPB	Single nucleotide variant (splice acceptor variant)	Isolated Pierre-Robin syndrome +1 more	GLikely pathogenic
Select item 2417937	NM_003091.4(SNRPB):c.560-3C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2420317	NM_003091.4(SNRPB):c.560-4G>A	SNRPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1624741	NM_003091.4(SNRPB):c.560-19T>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238022	NM_003091.4(SNRPB):c.560-34C>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999304	NM_003091.4(SNRPB):c.559+12A>G	SNRPB	Single nucleotide variant (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 2192340	NM_003091.4(SNRPB):c.559+8G>T	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130889	NM_003091.4(SNRPB):c.549A>G (p.Ala183=)	SNRPB	Single nucleotide variant (synonymous 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 1909313	NM_003091.4(SNRPB):c.530C>G (p.Pro177Arg)	SNRPB (P177R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901390	NM_003091.4(SNRPB):c.530C>A (p.Pro177Gln)	SNRPB (P177Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 3005022	NM_003091.4(SNRPB):c.526C>T (p.Pro176Ser)	SNRPB (P176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1999068	NM_003091.4(SNRPB):c.515G>A (p.Arg172His)	SNRPB (R172H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951777	NM_003091.4(SNRPB):c.498C>A (p.Thr166=)	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 1602264	NM_003091.4(SNRPB):c.486C>T (p.Ala162=)	SNRPB	Single nucleotide variant (synonymous 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 2436217	NM_003091.4(SNRPB):c.457G>A (p.Ala153Thr)	SNRPB (A153T)	Single nucleotide variant (missense variant)	Cerebro-costo-mandibular syndrome +1 more	GUncertain significance
Select item 2959802	NM_003091.4(SNRPB):c.456C>T (p.Ala152=)	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 1375950	NM_003091.4(SNRPB):c.443G>A (p.Gly148Asp)	SNRPB (G148D)	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 2809297	NM_003091.4(SNRPB):c.421-6T>C	SNRPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903396	NM_003091.4(SNRPB):c.421-15_421-13del	SNRPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1896315	NM_003091.4(SNRPB):c.421-19_421-16del	SNRPB	Microsatellite (intron 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 1548722	NM_003091.4(SNRPB):c.420+20G>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 750218	NM_003091.4(SNRPB):c.411A>C (p.Pro137=)	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 1522644	NM_003091.4(SNRPB):c.400G>A (p.Val134Ile)	SNRPB (V134I)	Single nucleotide variant (missense variant)	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 3000344	NM_003091.4(SNRPB):c.359T>C (p.Met120Thr)	SNRPB (M120T)	Single nucleotide variant (missense 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 762630	NM_003091.4(SNRPB):c.348T>C (p.Ala116=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708741	NM_003091.4(SNRPB):c.318C>T (p.Ile106=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2887279	NM_003091.4(SNRPB):c.303C>T (p.Ala101=)	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 1490179	NM_003091.4(SNRPB):c.286C>A (p.Pro96Thr)	SNRPB (P96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271900	NM_003091.4(SNRPB):c.268-199G>A	SNRPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2006681	NM_003091.4(SNRPB):c.267+10A>C	SNRPB	Single nucleotide variant (intron 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 3252718	NM_003091.4(SNRPB):c.267+5G>A	SNRPB	Single nucleotide variant (intron variant)	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 2182814	NM_003091.4(SNRPB):c.267T>C (p.Asp89=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1652132	NM_003091.4(SNRPB):c.252A>G (p.Gly84=)	SNRPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777297	NM_003091.4(SNRPB):c.252A>T (p.Gly84=)	SNRPB	Single nucleotide variant (synonymous variant)	SNRPB-related disorder +1 more	GBenign
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 1486374	NM_003091.4(SNRPB):c.214C>T (p.Leu72=)	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 2900718	NM_003091.4(SNRPB):c.193C>A (p.Arg65=)	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 2718666	NM_003091.4(SNRPB):c.171A>G (p.Lys57=)	SNRPB	Single nucleotide variant (synonymous 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 183434	NM_003091.4(SNRPB):c.155+406C>A	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183433	NM_003091.4(SNRPB):c.155+302G>T	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183432	NM_003091.4(SNRPB):c.155+302G>C	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183431	NM_003091.4(SNRPB):c.155+301G>C	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome +1 more	GPathogenic

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