79042[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 1236557	NC_000019.10:g.54190237C>T	TSEN34	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 330119	NM_024075.4(TSEN34):c.-175C>A	TSEN34	Single nucleotide variant (genic upstream transcript variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 330120	NM_024075.5(TSEN34):c.-95A>G	TSEN34	Single nucleotide variant (5 prime UTR variant)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 330121	NM_024075.5(TSEN34):c.-41G>A	TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 330122	NM_024075.5(TSEN34):c.-5+15G>A	TSEN34	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +1 more	GLikely benign
Select item 1250386	NM_024075.5(TSEN34):c.-5+33G>C	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262753	NM_024075.5(TSEN34):c.-5+249=	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190073	NM_024298.5(MBOAT7):c.-1587C>G	MBOAT7, TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 57 +1 more	GLikely benign
Select item 1264043	NM_024075.5(TSEN34):c.-4-239=	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246046	NM_024075.5(TSEN34):c.-4-197C>G	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194740	NM_024075.5(TSEN34):c.-4-170G>C	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217402	NM_024075.5(TSEN34):c.-4-158G>T	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216351	NM_001077446.3(TSEN34):c.-139C>T	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679020	NM_024075.5(TSEN34):c.-4-66G>A	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295595	NM_001077446.4(TSEN34):c.-53=	TSEN34	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 160118	NM_001077446.4(TSEN34):c.-33G>C	TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 389849	NM_001077446.4(TSEN34):c.-9C>T	TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 284231	NM_001077446.4(TSEN34):c.-8G>A	TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 330123	NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro)	TSEN34 (L2P)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 2303666	NM_001077446.4(TSEN34):c.38T>C (p.Val13Ala)	TSEN34 (V13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 160120	NM_001077446.4(TSEN34):c.39G>A (p.Val13=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 893501	NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys)	TSEN34 (R25C)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 2967856	NM_001077446.4(TSEN34):c.90C>T (p.Gly30=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426378	NM_001077446.4(TSEN34):c.94A>C (p.Thr32Pro)	TSEN34 (T32P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452390	NM_001077446.4(TSEN34):c.95C>T (p.Thr32Met)	TSEN34 (T32M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330124	NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys)	TSEN34 (T32K)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 893802	NM_001077446.4(TSEN34):c.96G>T (p.Thr32=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 2960031	NM_001077446.4(TSEN34):c.115G>A (p.Gly39Arg)	TSEN34 (G39R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2123962	NM_001077446.4(TSEN34):c.145C>T (p.Pro49Ser)	TSEN34 (P49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183592	NM_001077446.4(TSEN34):c.146C>T (p.Pro49Leu)	TSEN34 (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 893803	NM_001077446.4(TSEN34):c.153G>A (p.Leu51=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 2124	NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)	TSEN34 (R58W)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2C	GPathogenic
Select item 2965130	NM_001077446.4(TSEN34):c.177C>G (p.Leu59=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2880756	NM_001077446.4(TSEN34):c.183C>T (p.Ala61=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330125	NM_001077446.4(TSEN34):c.183C>A (p.Ala61=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 1952504	NM_001077446.4(TSEN34):c.204G>C (p.Leu68=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500326	NM_001077446.4(TSEN34):c.214C>G (p.Pro72Ala)	TSEN34 (P72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939969	NM_001077446.4(TSEN34):c.216G>T (p.Pro72=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777395	NM_001077446.4(TSEN34):c.227C>G (p.Ser76Cys)	TSEN34 (S76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330126	NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)	TSEN34 (R77P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3183593	NM_001077446.4(TSEN34):c.236A>G (p.His79Arg)	TSEN34 (H79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2956327	NM_001077446.4(TSEN34):c.243+17C>G	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569643	NM_001077446.4(TSEN34):c.243+19A>G	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343705	NM_001077446.4(TSEN34):c.250A>G (p.Thr84Ala)	TSEN34 (T84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 330127	NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys)	TSEN34 (R88C)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 212446	NM_001077446.4(TSEN34):c.268C>G (p.Gln90Glu)	TSEN34 (Q90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 893804	NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln)	TSEN34 (E92Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 631819	NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter)	TSEN34 (Q97*)	Single nucleotide variant (nonsense)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 893805	NM_001077446.4(TSEN34):c.294C>T (p.Ser98=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 1401794	NM_001077446.4(TSEN34):c.295G>C (p.Ala99Pro)	TSEN34 (A99P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 894713	NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln)	TSEN34 (R105Q)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GBenign/Likely benign
Select item 2820213	NM_001077446.4(TSEN34):c.321C>G (p.Thr107=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487686	NM_001077446.4(TSEN34):c.322C>G (p.Arg108Gly)	TSEN34 (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 160119	NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val)	TSEN34 (L112V)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 1290521	NM_001077446.4(TSEN34):c.339G>A (p.Leu113=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956338	NM_001077446.4(TSEN34):c.346A>T (p.Ile116Phe)	TSEN34 (I116F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328604	NM_001077446.4(TSEN34):c.356G>A (p.Gly119Asp)	TSEN34 (G119D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2514714	NM_001077446.4(TSEN34):c.365C>T (p.Ala122Val)	TSEN34 (A122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437063	NM_001077446.4(TSEN34):c.369G>A (p.Lys123=)	TSEN34	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1922302	NM_001077446.4(TSEN34):c.389C>T (p.Ala130Val)	TSEN34 (A130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212447	NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)	TSEN34 (S131L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 196514	NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg)	TSEN34 (G132R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 330128	NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro)	TSEN34 (A133P)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 1960343	NM_001077446.4(TSEN34):c.401G>A (p.Ser134Asn)	TSEN34 (S134N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315367	NM_001077446.4(TSEN34):c.424A>G (p.Ser142Gly)	TSEN34 (S142G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2316018	NM_001077446.4(TSEN34):c.428A>G (p.Gln143Arg)	TSEN34 (Q143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1900457	NM_001077446.4(TSEN34):c.442G>T (p.Asp148Tyr)	TSEN34 (D148Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898954	NM_001077446.4(TSEN34):c.451A>G (p.Ser151Gly)	TSEN34 (S151G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1313810	NM_001077446.4(TSEN34):c.461A>C (p.Gln154Pro)	TSEN34 (Q154P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183594	NM_001077446.4(TSEN34):c.464C>G (p.Ala155Gly)	TSEN34 (A155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478308	NM_001077446.4(TSEN34):c.467C>T (p.Ser156Leu)	TSEN34 (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 160121	NM_001077446.4(TSEN34):c.468G>C (p.Ser156=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060832	NM_001077446.4(TSEN34):c.474G>A (p.Glu158=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005086	NM_001077446.4(TSEN34):c.487+11G>T	TSEN34	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1669488	NM_001077446.4(TSEN34):c.487+19G>T	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681842	NM_001077446.4(TSEN34):c.488-16C>A	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958845	NM_001077446.4(TSEN34):c.488-14G>C	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625749	NM_001077446.4(TSEN34):c.488-13T>A	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054937	NM_001077446.4(TSEN34):c.488-9C>T	TSEN34	Single nucleotide variant (intron variant)	TSEN34-related disorder	GLikely benign
Select item 2429284	NM_001077446.4(TSEN34):c.488-2A>C	TSEN34	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2206611	NM_001077446.4(TSEN34):c.490C>T (p.Pro164Ser)	TSEN34 (P164S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650427	NM_001077446.4(TSEN34):c.498T>G (p.Ser166=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910538	NM_001077446.4(TSEN34):c.508G>A (p.Gly170Arg)	TSEN34 (G170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2289884	NM_001077446.4(TSEN34):c.521G>A (p.Gly174Glu)	TSEN34 (G174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 290843	NM_001077446.4(TSEN34):c.542C>A (p.Ser181Tyr)	TSEN34 (S181Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303378	NM_001077446.4(TSEN34):c.545C>T (p.Ala182Val)	TSEN34 (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2799362	NM_001077446.4(TSEN34):c.556C>A (p.Gln186Lys)	TSEN34 (Q186K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500213	NM_001077446.4(TSEN34):c.566C>T (p.Thr189Ile)	TSEN34 (T189I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212448	NM_001077446.4(TSEN34):c.581C>T (p.Pro194Leu)	TSEN34 (P194L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 330129	NM_001077446.4(TSEN34):c.591C>G (p.Ala197=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 1948870	NM_001077446.4(TSEN34):c.594G>A (p.Arg198=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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