17997[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 1327792	NC_000019.10:g.46746008C>G	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181076	NC_000019.10:g.46746021G>A	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270326	NC_000019.10:g.46746039G>C	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190029	NC_000019.10:g.46746040C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420683	NM_024301.5(FKRP):c.-272GGC[8]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 522865	NM_024301.5(FKRP):c.-272G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GPathogenic
Select item 518044	NM_024301.5(FKRP):c.-272GGC[3]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3029813	NM_024301.5(FKRP):c.-270C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	FKRP-related disorder	GLikely benign
Select item 1028981	NM_024301.5(FKRP):c.-253+4A>G	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 516899	NM_024301.5(FKRP):c.-253+5GGCCG[5]	FKRP, LOC130064775 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 3363381	NM_024301.5(FKRP):c.-253+5G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 509026	NM_024301.5(FKRP):c.-253+9G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390494	NM_024301.5(FKRP):c.-253+14G>A	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2288846	NM_013403.3(STRN4):c.272C>T (p.Ala91Val)	FKRP, LOC130064775 +1 more (A91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291138	NM_013403.3(STRN4):c.251C>T (p.Ala84Val)	FKRP, LOC130064775 +1 more (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323434	NM_013403.3(STRN4):c.250G>A (p.Ala84Thr)	FKRP, LOC130064775 +1 more (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255832	NM_013403.3(STRN4):c.182A>C (p.Glu61Ala)	FKRP, STRN4 (E61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256842	NM_013403.3(STRN4):c.157A>C (p.Ser53Arg)	FKRP, STRN4 (S53R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171664	NM_013403.3(STRN4):c.113C>A (p.Ala38Asp)	FKRP, STRN4 (A38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171662	NM_013403.3(STRN4):c.103T>C (p.Ser35Pro)	FKRP, STRN4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205400	NM_013403.3(STRN4):c.56C>A (p.Pro19Gln)	FKRP, STRN4 (P19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238402	NM_013403.3(STRN4):c.52C>T (p.Arg18Cys)	FKRP, STRN4 (R18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781468	NM_013403.3(STRN4):c.30C>A (p.Val10=)	FKRP, STRN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504355	NM_024301.5(FKRP):c.-253+331C>A	FKRP, STRN4 (E4*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1691151	NM_024301.5(FKRP):c.-252-125G>A	FKRP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511352	NM_024301.5(FKRP):c.-246A>G	FKRP	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 680349	NM_024301.5(FKRP):c.-206G>T	FKRP	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 509741	NM_024301.5(FKRP):c.-197C>T	FKRP	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 391158	NM_024301.5(FKRP):c.-195A>G	FKRP	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1269100	NM_024301.5(FKRP):c.-190-93C>T	FKRP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420328	NM_024301.5(FKRP):c.-52_-50del	FKRP	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 137381	NM_024301.5(FKRP):c.-40+8C>G	FKRP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1194483	NM_024301.5(FKRP):c.-40+86G>C	FKRP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 408658	NM_024301.5(FKRP):c.-39-2934_564del	FKRP	Deletion (splice acceptor variant +1 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 678369	NM_024301.5(FKRP):c.-39-243A>G	FKRP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192965	NM_024301.5(FKRP):c.-39-205dup	FKRP	Duplication (intron variant)	not provided	GLikely benign
Select item 1295865	NM_024301.5(FKRP):c.-39-205del	FKRP	Deletion (intron variant)	not provided	GBenign
Select item 1191066	NM_024301.5(FKRP):c.-39-206_-39-205del	FKRP	Deletion (intron variant)	not provided	GLikely benign
Select item 387858	NM_024301.5(FKRP):c.-39-16C>T	FKRP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 391353	NM_024301.5(FKRP):c.-39-15G>A	FKRP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 96104	NM_024301.5(FKRP):c.-34C>T	FKRP	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GBenign
Select item 513389	NM_024301.5(FKRP):c.-30G>A	FKRP	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 642043	NC_000019.10:g.(?_46755431)_(46756958_?)del	FKRP	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 1744697	NM_024301.5(FKRP):c.-4C>T	FKRP	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 507383	NM_024301.5(FKRP):c.-2C>A	FKRP	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1072163	NM_024301.5(FKRP):c.1A>C (p.Met1Leu)	FKRP (M1L)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 120180	NM_024301.5(FKRP):c.1A>G (p.Met1Val)	FKRP (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2127574	NM_024301.5(FKRP):c.4C>A (p.Arg2=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 664545	NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)	FKRP (R2W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2148833	NM_024301.5(FKRP):c.5G>A (p.Arg2Gln)	FKRP (R2Q)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 459240	NM_024301.5(FKRP):c.5G>T (p.Arg2Leu)	FKRP (R2L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1139801	NM_024301.5(FKRP):c.9C>G (p.Leu3=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 714440	NM_024301.5(FKRP):c.9C>T (p.Leu3=)	FKRP	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GLikely benign
Select item 2500032	NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)	FKRP (T4A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more	GUncertain significance
Select item 290603	NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	FKRP (T4S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 408719	NM_024301.5(FKRP):c.13C>T (p.Arg5Cys)	FKRP (R5C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1146455	NM_024301.5(FKRP):c.15C>A (p.Arg5=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1436650	NM_024301.5(FKRP):c.16T>C (p.Cys6Arg)	FKRP (C6R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 698773	NM_024301.5(FKRP):c.18C>T (p.Cys6=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 1723449	NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)	FKRP (Q7*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1421832	NM_024301.5(FKRP):c.22G>A (p.Ala8Thr)	FKRP (A8T)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 2145390	NM_024301.5(FKRP):c.26C>T (p.Ala9Val)	FKRP (A9V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2821275	NM_024301.5(FKRP):c.27C>T (p.Ala9=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1368772	NM_024301.5(FKRP):c.30GGC[1] (p.Ala13del)	FKRP (A13del)	Microsatellite (inframe_deletion)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 944173	NM_024301.5(FKRP):c.32C>T (p.Ala11Val)	FKRP (A11V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 191105	NM_024301.5(FKRP):c.33G>C (p.Ala11=)	FKRP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 459234	NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)	FKRP (A13T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 284975	NM_024301.5(FKRP):c.43A>C (p.Thr15Pro)	FKRP (T15P)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 1011264	NM_024301.5(FKRP):c.44C>T (p.Thr15Ile)	FKRP (T15I)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2452478	NM_024301.5(FKRP):c.45C>G (p.Thr15=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2085436	NM_024301.5(FKRP):c.45C>T (p.Thr15=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1653078	NM_024301.5(FKRP):c.48C>T (p.Leu16=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 546302	NM_024301.5(FKRP):c.52C>T (p.Leu18Phe)	FKRP (L18F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288970	NM_024301.5(FKRP):c.54T>A (p.Leu18=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1421960	NM_024301.5(FKRP):c.57G>A (p.Leu19=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 971112	NM_024301.5(FKRP):c.59T>C (p.Val20Ala)	FKRP (V20A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2830769	NM_024301.5(FKRP):c.60C>A (p.Val20=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1641950	NM_024301.5(FKRP):c.60C>T (p.Val20=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1602166	NM_024301.5(FKRP):c.60C>G (p.Val20=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1752168	NM_024301.5(FKRP):c.61C>T (p.Leu21Phe)	FKRP (L21F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 511931	NM_024301.5(FKRP):c.66C>T (p.Phe22=)	FKRP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 663660	NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)	FKRP (Y23C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1114892	NM_024301.5(FKRP):c.69T>C (p.Tyr23=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3241629	NM_024301.5(FKRP):c.74_80del (p.Ser25fs)	FKRP (S25fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 242413	NM_024301.5(FKRP):c.74C>A (p.Ser25Ter)	FKRP (S25*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2841876	NM_024301.5(FKRP):c.75G>C (p.Ser25=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1610177	NM_024301.5(FKRP):c.75G>T (p.Ser25=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 747443	NM_024301.5(FKRP):c.75G>A (p.Ser25=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 242412	NM_024301.5(FKRP):c.76_77del (p.Trp26fs)	FKRP (W26fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1014987	NM_024301.5(FKRP):c.77G>T (p.Trp26Leu)	FKRP (W26L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 556052	NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)	FKRP (W26*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2I +1 more	GPathogenic/Likely pathogenic
Select item 3241624	NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)	FKRP (W26*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 1545342	NM_024301.5(FKRP):c.79C>T (p.Leu27=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2837289	NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)	FKRP (Q28*)	Indel (nonsense)	Walker-Warburg congenital muscular dystrophy	GPathogenic

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