15446[HGNC] - 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	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +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 2579242	GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579241	GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579246	GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1	PRPF31, TFPT	Copy number loss	Retinitis pigmentosa 11	GUncertain significance
Select item 2579240	GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1	PRPF31, PRPF31-AS1 +1 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 369291	NC_000019.10:g.54115396C>T	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 3352330	NM_015629.3(PRPF31):c.-349delC	PRPF31, TFPT	Deletion (5 prime UTR variant)	PRPF31-related disorder	GLikely benign
Select item 330085	NM_015629.3(PRPF31):c.-343C>T	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant +1 more	GLikely benign
Select item 330086	NM_015629.3(PRPF31):c.-207G>A	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant +1 more	GUncertain significance
Select item 330087	NM_015629.3(PRPF31):c.-187C>A	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 330088	NM_015629.3(PRPF31):c.-127G>A	PRPF31	Single nucleotide variant	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 330089	NM_015629.3(PRPF31):c.-113G>C	PRPF31	Single nucleotide variant	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 330090	NM_015629.4(PRPF31):c.-32A>C	PRPF31	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 330091	NM_015629.4(PRPF31):c.-21G>T	PRPF31	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 2691898	NM_015629.4(PRPF31):c.-9+1G>T	PRPF31, PRPF31-AS1 +1 more	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 1213883	NM_015629.4(PRPF31):c.-9+1G>A	PRPF31	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 893745	NM_015629.4(PRPF31):c.-9+3G>A	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 330092	NM_015629.4(PRPF31):c.-9+14=	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GBenign
Select item 866039	NM_015629.4(PRPF31):c.-6C>A	PRPF31	Single nucleotide variant (5 prime UTR variant)	Retinal dystrophy	GUncertain significance
Select item 3235232	NM_015629.4(PRPF31):c.1A>G (p.Met1Val)	PRPF31 (M1V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 11	GPathogenic
Select item 438044	NM_015629.4(PRPF31):c.1A>T (p.Met1Leu)	PRPF31, PRPF31-AS1 (M1L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1457892	NM_015629.4(PRPF31):c.2T>A (p.Met1Lys)	PRPF31 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2818311	NM_015629.4(PRPF31):c.3G>C (p.Met1Ile)	PRPF31 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 804151	NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)	PRPF31, PRPF31-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 2028917	NM_015629.4(PRPF31):c.7_8del (p.Leu3fs)	PRPF31 (L3fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2054023	NM_015629.4(PRPF31):c.5C>G (p.Ser2Cys)	PRPF31 (S2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955960	NM_015629.4(PRPF31):c.22T>C (p.Leu8=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351673	NM_015629.4(PRPF31):c.23T>G (p.Leu8Ter)	PRPF31 (L8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2038438	NM_015629.4(PRPF31):c.33C>G (p.Leu11=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893746	NM_015629.4(PRPF31):c.33C>T (p.Leu11=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 2018611	NM_015629.4(PRPF31):c.42A>C (p.Ala14=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132347	NM_015629.4(PRPF31):c.45A>C (p.Ala15=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770838	NM_015629.4(PRPF31):c.52G>T (p.Glu18Ter)	PRPF31 (E18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1065764	NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs)	PRPF31 (E27fs)	Duplication (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 866568	NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs)	PRPF31 (D56fs)	Duplication (frameshift variant)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 3028509	NM_015629.4(PRPF31):c.69T>C (p.Tyr23=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3310358	NM_015629.4(PRPF31):c.71G>C (p.Gly24Ala)	PRPF31 (G24A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813211	NM_015629.4(PRPF31):c.81_84del (p.Glu28fs)	PRPF31 (E28fs)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 2073717	NM_015629.4(PRPF31):c.82G>A (p.Glu28Lys)	PRPF31 (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804152	NM_015629.4(PRPF31):c.89_92del (p.Pro30fs)	PRPF31, PRPF31-AS1 (P30fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 3343811	NM_015629.4(PRPF31):c.88C>T (p.Pro30Ser)	PRPF31 (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805102	NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)	PRPF31, PRPF31-AS1 (P30L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 1665716	NM_015629.4(PRPF31):c.90A>G (p.Pro30=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004911	NM_015629.4(PRPF31):c.93G>A (p.Ala31=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 813071	NM_015629.4(PRPF31):c.96_102del (p.Ile32fs)	PRPF31, PRPF31-AS1 (I32fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 3028510	NM_015629.4(PRPF31):c.96C>T (p.Ile32=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 330093	NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg)	PRPF31 (Q36R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2981299	NM_015629.4(PRPF31):c.111G>A (p.Glu37=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499038	NM_015629.4(PRPF31):c.113A>C (p.Glu38Ala)	PRPF31 (E38A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2972909	NM_015629.4(PRPF31):c.118C>T (p.Gln40Ter)	PRPF31 (Q40*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 236422	NM_015629.4(PRPF31):c.121C>G (p.Leu41Val)	PRPF31 (L41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910149	NM_015629.4(PRPF31):c.132C>T (p.Ser44=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065653	NM_015629.4(PRPF31):c.136del (p.Asp46fs)	PRPF31 (D46fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1354137	NM_015629.4(PRPF31):c.136G>A (p.Asp46Asn)	PRPF31 (D46N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195310	NM_015629.4(PRPF31):c.138T>C (p.Asp46=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 992467	NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)	PRPF31, PRPF31-AS1 (S47*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 2101613	NM_015629.4(PRPF31):c.141A>G (p.Ser47=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 95734	NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile)	PRPF31 (T50I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1380400	NM_015629.4(PRPF31):c.152_158del (p.Ile51fs)	PRPF31 (I51fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 804153	NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter)	PRPF31 (W55*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 1172723	NM_015629.4(PRPF31):c.176del (p.Met59fs)	PRPF31 (M59fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GPathogenic
Select item 813208	NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs)	PRPF31, PRPF31-AS1 (M59fs)	Insertion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 2016071	NM_015629.4(PRPF31):c.177+3_177+17del	PRPF31	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1416170	NM_015629.4(PRPF31):c.177+1del	PRPF31	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1994605	NM_015629.4(PRPF31):c.177+1G>A	PRPF31	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 894662	NM_015629.4(PRPF31):c.177+4A>T	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 330094	NM_015629.4(PRPF31):c.177+7G>A	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1541486	NM_015629.4(PRPF31):c.177+18G>C	PRPF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636960	NM_015629.4(PRPF31):c.178-19G>C	PRPF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083402	NM_015629.4(PRPF31):c.178-12C>G	PRPF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3040994	NM_015629.4(PRPF31):c.178-8T>C	PRPF31	Single nucleotide variant (intron variant)	PRPF31-related disorder	GLikely benign
Select item 813072	NM_015629.4(PRPF31):c.178-2A>G	PRPF31, PRPF31-AS1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GPathogenic
Select item 1209971	NM_015629.4(PRPF31):c.178-1G>A	PRPF31	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2828187	NM_015629.4(PRPF31):c.180T>C (p.Phe60=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 867125	NM_015629.4(PRPF31):c.183dup (p.Glu62Ter)	PRPF31 (E62*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 288338	NM_015629.4(PRPF31):c.182C>G (p.Ala61Gly)	PRPF31 (A61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367675	NM_015629.4(PRPF31):c.188T>C (p.Ile63Thr)	PRPF31 (I63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061391	NM_015629.4(PRPF31):c.194T>A (p.Met65Lys)	PRPF31 (M65K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866121	NM_015629.4(PRPF31):c.195del (p.Met65fs)	PRPF31 (M65fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1553155	NM_015629.4(PRPF31):c.201T>C (p.Ile67=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686099	NM_015629.4(PRPF31):c.205del (p.Glu69fs)	PRPF31 (E69fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GPathogenic
Select item 330095	NM_015629.4(PRPF31):c.207G>A (p.Glu69=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2079862	NM_015629.4(PRPF31):c.209A>G (p.Tyr70Cys)	PRPF31 (Y70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076748	NM_015629.4(PRPF31):c.221_224dup (p.Lys76fs)	PRPF31 (K76fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2026510	NM_015629.4(PRPF31):c.218dup (p.Gln74fs)	PRPF31 (Q74fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 987368	NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter)	PRPF31 (K73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1405059	NM_015629.4(PRPF31):c.220C>G (p.Gln74Glu)	PRPF31 (Q74E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620140	NM_015629.4(PRPF31):c.220C>T (p.Gln74Ter)	PRPF31 (Q74*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1967045	NM_015629.4(PRPF31):c.224C>A (p.Ala75Asp)	PRPF31 (A75D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669922	NM_015629.4(PRPF31):c.225C>T (p.Ala75=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152321	NM_015629.4(PRPF31):c.238+1G>A	PRPF31	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1065713	NM_015629.4(PRPF31):c.238+1_238+7del	PRPF31	Deletion (splice donor variant)	Retinitis pigmentosa 11	GLikely pathogenic

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