93587[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
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 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 2862871	NM_001134665.3(TRMT10A):c.1016A>G (p.His339Arg)	TRMT10A (H332R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553752	NM_001134665.3(TRMT10A):c.978G>A (p.Lys326=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960620	NM_001134665.3(TRMT10A):c.972G>A (p.Gln324=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437054	NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr)	TRMT10A (P319T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1931105	NM_001134665.3(TRMT10A):c.946C>G (p.Leu316Val)	TRMT10A (L309V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338060	NM_001134665.3(TRMT10A):c.934A>G (p.Ser312Gly)	TRMT10A (S305G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2122018	NM_001134665.3(TRMT10A):c.907_913dup (p.Asp305delinsGlyGlnTer)	TRMT10A	Duplication (nonsense)	not provided	GUncertain significance
Select item 1918806	NM_001134665.3(TRMT10A):c.906G>A (p.Ser302=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441812	NM_001134665.3(TRMT10A):c.899G>A (p.Gly300Asp)	TRMT10A (G293D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486487	NM_001134665.3(TRMT10A):c.898G>C (p.Gly300Arg)	TRMT10A (G300R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796683	NM_001134665.3(TRMT10A):c.888G>A (p.Arg296=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175892	NM_001134665.3(TRMT10A):c.875A>G (p.Asn292Ser)	TRMT10A (N292S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3182989	NM_001134665.3(TRMT10A):c.868C>T (p.His290Tyr)	TRMT10A (H283Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437055	NM_001134665.3(TRMT10A):c.866_868del (p.Ser289_His290delinsTyr)	TRMT10A	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 1337704	NM_001134665.3(TRMT10A):c.854G>A (p.Cys285Tyr)	TRMT10A (C278Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 437056	NM_001134665.3(TRMT10A):c.837T>A (p.Val279=)	TRMT10A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2968711	NM_001134665.3(TRMT10A):c.824G>A (p.Arg275Gln)	TRMT10A (R268Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473002	NM_001134665.3(TRMT10A):c.823C>A (p.Arg275=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1810555	NM_001134665.3(TRMT10A):c.820del (p.Gln274fs)	TRMT10A (Q274fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1896226	NM_001134665.3(TRMT10A):c.794A>G (p.Gln265Arg)	TRMT10A (Q258R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324195	NM_001134665.3(TRMT10A):c.785G>A (p.Arg262Lys)	TRMT10A (R262K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072444	NM_001134665.3(TRMT10A):c.752-4G>A	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562217	NM_001134665.3(TRMT10A):c.752-20G>A	TRMT10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2105106	NM_001134665.3(TRMT10A):c.751+19A>C	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435068	NM_001134665.3(TRMT10A):c.727C>T (p.Arg243Ter)	TRMT10A (R236* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2169993	NM_001134665.3(TRMT10A):c.723dup (p.Ser242Ter)	TRMT10A (S242* +1 more)	Duplication (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1998820	NM_001134665.3(TRMT10A):c.719T>A (p.Met240Lys)	TRMT10A (M240K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000024	NM_001134665.3(TRMT10A):c.701T>G (p.Leu234Arg)	TRMT10A (L234R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974899	NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter)	TRMT10A (P226* +1 more)	Indel (nonsense)	Microcephaly, short stature, and impaired glucose metabolism 1	GLikely pathogenic
Select item 1633673	NM_001134665.3(TRMT10A):c.696C>A (p.Leu232=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477949	NM_001134665.3(TRMT10A):c.683A>G (p.Asn228Ser)	TRMT10A (N221S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307347	NM_001134665.3(TRMT10A):c.679A>C (p.Ile227Leu)	TRMT10A (I220L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985699	NM_001134665.3(TRMT10A):c.666G>A (p.Ala222=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720573	NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val)	TRMT10A (A222V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2003105	NM_001134665.3(TRMT10A):c.646-11C>G	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941309	NM_001134665.3(TRMT10A):c.645+17A>T	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772966	NM_001134665.3(TRMT10A):c.642C>T (p.His214=)	TRMT10A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 156230	NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg)	TRMT10A (G206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1933294	NM_001134665.3(TRMT10A):c.608A>G (p.Tyr203Cys)	TRMT10A (Y203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193181	NM_001134665.3(TRMT10A):c.587A>G (p.Glu196Gly)	TRMT10A (E196G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2209442	NM_001134665.3(TRMT10A):c.574A>G (p.Asn192Asp)	TRMT10A (N192D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182762	NM_001134665.3(TRMT10A):c.571C>T (p.Pro191Ser)	TRMT10A (P191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380979	NM_001134665.3(TRMT10A):c.569C>T (p.Ser190Leu)	TRMT10A (S190L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651565	NM_001134665.3(TRMT10A):c.561G>A (p.Thr187=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146543	NM_001134665.3(TRMT10A):c.560C>T (p.Thr187Met)	TRMT10A (T187M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329059	NM_001134665.3(TRMT10A):c.556C>T (p.Leu186Phe)	TRMT10A (L186F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417046	NM_001134665.3(TRMT10A):c.517C>A (p.His173Asn)	TRMT10A (H173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642738	NM_001134665.3(TRMT10A):c.495+11_495+54del	TRMT10A	Deletion (intron variant)	not provided	GLikely benign
Select item 1978522	NM_001134665.3(TRMT10A):c.495+11C>A	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971065	NM_001134665.3(TRMT10A):c.495+4A>G	TRMT10A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1348928	NM_001134665.3(TRMT10A):c.495+2T>C	TRMT10A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2024480	NM_001134665.3(TRMT10A):c.483G>A (p.Trp161Ter)	TRMT10A (W161*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1927454	NM_001134665.3(TRMT10A):c.480A>T (p.Gly160=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715737	NM_001134665.3(TRMT10A):c.465T>G (p.Asp155Glu)	TRMT10A (D155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336497	NM_001134665.3(TRMT10A):c.465T>A (p.Asp155Glu)	TRMT10A (D155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251466	NM_001134665.3(TRMT10A):c.460A>G (p.Met154Val)	TRMT10A (M154V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074639	NM_001134665.3(TRMT10A):c.442G>A (p.Gly148Ser)	TRMT10A (G148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582331	NM_001134665.3(TRMT10A):c.438C>T (p.His146=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409328	NM_001134665.3(TRMT10A):c.438C>G (p.His146Gln)	TRMT10A (H146Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922256	NM_001134665.3(TRMT10A):c.421-16A>T	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186151	NM_001134665.3(TRMT10A):c.420+6T>C	TRMT10A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2049376	NM_001134665.3(TRMT10A):c.414T>G (p.Pro138=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554451	NM_001134665.3(TRMT10A):c.408G>A (p.Leu136=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437057	NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)	TRMT10A (R133Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2228043	NM_001134665.3(TRMT10A):c.389C>T (p.Ala130Val)	TRMT10A (A130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029188	NM_001134665.3(TRMT10A):c.388G>T (p.Ala130Ser)	TRMT10A (A130S)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and impaired glucose metabolism 1	GUncertain significance
Select item 1029187	NM_001134665.3(TRMT10A):c.388G>A (p.Ala130Thr)	TRMT10A (A130T)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and impaired glucose metabolism 1	GUncertain significance
Select item 2064039	NM_001134665.3(TRMT10A):c.387C>T (p.Tyr129=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450037	NM_001134665.3(TRMT10A):c.380G>A (p.Arg127Gln)	TRMT10A (R127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156229	NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)	TRMT10A (R127*)	Single nucleotide variant (nonsense)	Microcephaly, short stature, and impaired glucose metabolism 1	GPathogenic/Likely pathogenic
Select item 1580929	NM_001134665.3(TRMT10A):c.366T>C (p.His122=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136458	NM_001134665.3(TRMT10A):c.349-4A>T	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777623	NM_001134665.3(TRMT10A):c.349-6_349-5del	TRMT10A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2962905	NM_001134665.3(TRMT10A):c.349-11C>T	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612632	NM_001134665.3(TRMT10A):c.349-17dup	TRMT10A	Duplication (intron variant)	not provided	GBenign
Select item 1580373	NM_001134665.3(TRMT10A):c.349-18A>T	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032933	NM_001134665.3(TRMT10A):c.348+12C>A	TRMT10A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2231420	NM_001134665.3(TRMT10A):c.348+6A>G	TRMT10A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2837642	NM_001134665.3(TRMT10A):c.348+1G>T	TRMT10A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 984716	NM_001134665.3(TRMT10A):c.348G>C (p.Lys116Asn)	TRMT10A (K116N)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and impaired glucose metabolism 1	GUncertain significance
Select item 2444063	NM_001134665.3(TRMT10A):c.346A>T (p.Lys116Ter)	TRMT10A (K116*)	Single nucleotide variant (nonsense)	Microcephaly, short stature, and impaired glucose metabolism 1	GPathogenic
Select item 1441249	NM_001134665.3(TRMT10A):c.337A>G (p.Met113Val)	TRMT10A (M113V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2087814	NM_001134665.3(TRMT10A):c.330T>A (p.Asp110Glu)	TRMT10A (D110E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975225	NM_001134665.3(TRMT10A):c.319T>C (p.Cys107Arg)	TRMT10A (C107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447428	NM_001134665.3(TRMT10A):c.305G>A (p.Arg102His)	TRMT10A (R102H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936572	NM_001134665.3(TRMT10A):c.301C>T (p.Leu101Phe)	TRMT10A (L101F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102076	NM_001134665.3(TRMT10A):c.290T>C (p.Val97Ala)	TRMT10A (V97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033142	NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter)	TRMT10A (R93*)	Single nucleotide variant (nonsense)	Abnormality of the nervous system +1 more	GPathogenic/Likely pathogenic
Select item 1539011	NM_001134665.3(TRMT10A):c.273T>G (p.Arg91=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951100	NM_001134665.3(TRMT10A):c.271C>T (p.Arg91Cys)	TRMT10A (R91C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2103431	NM_001134665.3(TRMT10A):c.238A>G (p.Met80Val)	TRMT10A (M80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654967	NM_001134665.3(TRMT10A):c.231A>G (p.Gln77=)	TRMT10A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359637	NM_001134665.3(TRMT10A):c.227G>A (p.Arg76Gln)	TRMT10A (R76Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690555	NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter)	TRMT10A (R76*)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 2420311	NM_001134665.3(TRMT10A):c.221T>C (p.Leu74Ser)	TRMT10A (L74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605037	NM_001134665.3(TRMT10A):c.218A>T (p.Lys73Ile)	TRMT10A (K73I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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