3229[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance
Select item 347218	NM_001963.6(EGF):c.-447G>A	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GLikely benign
Select item 901088	NM_001963.6(EGF):c.-424G>A	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GBenign
Select item 225998	NM_001963.6(EGF):c.-382A>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 901633	NM_001963.6(EGF):c.-361C>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 1317925	NM_001963.6(EGF):c.-342C>T	EGF	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 901634	NM_001963.6(EGF):c.-342C>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 347219	NM_001963.6(EGF):c.-283G>C	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 901635	NM_001963.6(EGF):c.-273T>C	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 901636	NM_001963.6(EGF):c.-270T>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 347220	NM_001963.6(EGF):c.-265G>T	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 903585	NM_001963.6(EGF):c.-228G>C	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 2772550	NM_001963.6(EGF):c.-185_87del (p.Met1fs)	EGF (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 347221	NM_001963.6(EGF):c.-140A>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 347222	NM_001963.6(EGF):c.-127A>C	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 347223	NM_001963.6(EGF):c.-102G>A	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GLikely benign
Select item 903586	NM_001963.6(EGF):c.-78A>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4	GLikely benign
Select item 903587	NM_001963.6(EGF):c.-60C>T	EGF	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 3008136	NM_001963.6(EGF):c.6G>A (p.Leu2=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347224	NM_001963.6(EGF):c.46A>C (p.Ser16Arg)	EGF (S16R)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 347225	NM_001963.6(EGF):c.47G>C (p.Ser16Thr)	EGF (S16T)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 721901	NM_001963.6(EGF):c.57T>C (p.Ser19=)	EGF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2419551	NM_001963.6(EGF):c.99C>T (p.Leu33=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042096	NM_001963.6(EGF):c.100G>A (p.Ala34Thr)	EGF (A34T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190439	NM_001963.6(EGF):c.117T>A (p.Ser39=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194651	NM_001963.6(EGF):c.127+9T>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964989	NM_001963.6(EGF):c.127+13A>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 899984	NM_001963.6(EGF):c.127+14T>A	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 1320558	NM_001963.6(EGF):c.127+29G>T	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316771	NM_001963.6(EGF):c.127+107T>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316534	NM_001963.6(EGF):c.127+302A>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317851	NM_001963.6(EGF):c.128-186C>T	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287068	NM_001963.6(EGF):c.128-175G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282787	NM_001963.6(EGF):c.128-79G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1524106	NM_001963.6(EGF):c.134C>T (p.Ala45Val)	EGF (A45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709774	NM_001963.6(EGF):c.192C>A (p.Thr64=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GLikely benign
Select item 347226	NM_001963.6(EGF):c.264C>T (p.Ile88=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 2998685	NM_001963.6(EGF):c.288A>G (p.Gln96=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973973	NM_001963.6(EGF):c.316T>C (p.Ser106Pro)	EGF (S106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267512	NM_001963.6(EGF):c.327+62C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2016662	NM_001963.6(EGF):c.328-15A>G	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2798698	NM_001963.6(EGF):c.328-14A>G	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2134847	NM_001963.6(EGF):c.328-10G>T	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962319	NM_001963.6(EGF):c.341T>G (p.Ile114Arg)	EGF (I114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384794	NM_001963.6(EGF):c.413G>A (p.Gly138Glu)	EGF (G138E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347227	NM_001963.6(EGF):c.451C>T (p.His151Tyr)	EGF (H151Y)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 2964027	NM_001963.6(EGF):c.453C>T (p.His151=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187959	NM_001963.6(EGF):c.456T>C (p.Ile152=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368025	NM_001963.6(EGF):c.464G>A (p.Ser155Asn)	EGF (S155N)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GUncertain significance
Select item 1941820	NM_001963.6(EGF):c.465T>G (p.Ser155Arg)	EGF (S155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413436	NM_001963.6(EGF):c.476A>G (p.Tyr159Cys)	EGF (Y159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2396712	NM_001963.6(EGF):c.505G>A (p.Glu169Lys)	EGF (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272335	NM_001963.6(EGF):c.509+132G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316770	NM_001963.6(EGF):c.510-167G>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290696	NM_001963.6(EGF):c.510-140G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1918736	NM_001963.6(EGF):c.552A>G (p.Arg184=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347228	NM_001963.6(EGF):c.556G>C (p.Asp186His)	EGF (D186H)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1946298	NM_001963.6(EGF):c.558T>A (p.Asp186Glu)	EGF (D186E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977307	NM_001963.6(EGF):c.562G>A (p.Asp188Asn)	EGF (D188N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2264717	NM_001963.6(EGF):c.574G>A (p.Val192Met)	EGF (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2058433	NM_001963.6(EGF):c.588G>A (p.Leu196=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403287	NM_001963.6(EGF):c.638G>A (p.Arg213Gln)	EGF (R213Q)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GUncertain significance
Select item 2980278	NM_001963.6(EGF):c.639G>A (p.Arg213=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228415	NM_001963.6(EGF):c.655T>C (p.Tyr219His)	EGF (Y219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2092478	NM_001963.6(EGF):c.659A>G (p.Asn220Ser)	EGF (N220S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 899985	NM_001963.6(EGF):c.662G>C (p.Arg221Thr)	EGF (R221T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2799830	NM_001963.6(EGF):c.672C>T (p.Ser224=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426151	NM_001963.6(EGF):c.686G>T (p.Cys229Phe)	EGF (C229F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718514	NM_001963.6(EGF):c.720T>C (p.Ile240=)	EGF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2121563	NM_001963.6(EGF):c.721A>G (p.Ser241Gly)	EGF (S241G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 899986	NM_001963.6(EGF):c.731C>A (p.Pro244Gln)	EGF (P244Q)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 1630683	NM_001963.6(EGF):c.737+11C>T	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4 +1 more	GLikely benign
Select item 1272784	NM_001963.6(EGF):c.737+46T>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317550	NM_001963.6(EGF):c.737+91G>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234130	NM_001963.6(EGF):c.737+141G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292009	NM_001963.6(EGF):c.737+153G>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261943	NM_001963.6(EGF):c.737+207A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222566	NM_001963.6(EGF):c.737+240A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286580	NM_001963.6(EGF):c.737+243A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257011	NM_001963.6(EGF):c.737+260T>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270100	NM_001963.6(EGF):c.737+262C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251476	NM_001963.6(EGF):c.737+321T>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250595	NM_001963.6(EGF):c.738-51A>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1912274	NM_001963.6(EGF):c.738-11T>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 899987	NM_001963.6(EGF):c.742A>G (p.Asn248Asp)	EGF (N248D)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 2785439	NM_001963.6(EGF):c.761T>C (p.Leu254Pro)	EGF (L254P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347229	NM_001963.6(EGF):c.769G>C (p.Asp257His)	EGF (D257H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1930129	NM_001963.6(EGF):c.772C>T (p.Arg258Cys)	EGF (R258C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984586	NM_001963.6(EGF):c.773G>A (p.Arg258His)	EGF (R258H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632423	NM_001963.6(EGF):c.791G>A (p.Trp264Ter)	EGF (W264*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 4	GUncertain significance
Select item 2125642	NM_001963.6(EGF):c.797T>C (p.Met266Thr)	EGF (M266T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931532	NM_001963.6(EGF):c.803C>A (p.Thr268Lys)	EGF (T268K)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 1371558	NM_001963.6(EGF):c.824A>G (p.His275Arg)	EGF (H275R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364482	NM_001963.6(EGF):c.830G>T (p.Gly277Val)	EGF (G277V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 901152	NM_001963.6(EGF):c.835G>A (p.Asp279Asn)	EGF (D279N)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 2885154	NM_001963.6(EGF):c.837C>T (p.Asp279=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013207	NM_001963.6(EGF):c.838A>G (p.Met280Val)	EGF (M280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709736	NM_001963.6(EGF):c.875T>A (p.Leu292His)	EGF (L292H)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign

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