5468[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 440735	NM_138711.6(PPARG):c.-8-29900A>G	PPARG	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	Gassociation
Select item 440734	NM_138711.6(PPARG):c.-8-29880A>T	PPARG	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	Gassociation
Select item 440733	NM_138711.6(PPARG):c.-8-28918A>C	PPARG	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	Gassociation
Select item 342919	NM_138711.6(PPARG):c.-8-28133C>T	PPARG	Single nucleotide variant (5 prime UTR variant +1 more)	Obesity +2 more	GBenign/Likely benign
Select item 2130883	NM_138711.6(PPARG):c.-8-28104A>G	PPARG (E3G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804804	NM_138711.6(PPARG):c.-8-28082del	PPARG (I10fs)	Deletion (frameshift variant +1 more)	PPARG-related disorder	GLikely pathogenic
Select item 2970223	NM_138711.6(PPARG):c.-8-28079C>T	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 130019	NM_138711.6(PPARG):c.-8-28078C>G	PPARG (P12A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1530151	NM_138711.6(PPARG):c.-8-28058T>C	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878857	NM_138711.6(PPARG):c.-8-28026A>C	PPARG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1644071	NM_138711.6(PPARG):c.-8-28014G>T	PPARG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227468	NM_138711.6(PPARG):c.-8-114C>T	PPARG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048376	NM_138711.6(PPARG):c.-8-14A>G	PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 8131	NM_138711.6(PPARG):c.28C>G (p.Pro10Ala)	PPARG (P12A +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, noninsulin-dependent, modifier of +3 more	Grisk factor
Select item 930372	NM_138711.6(PPARG):c.46_58del (p.Ser17fs)	PPARG (S19fs +2 more)	Deletion (frameshift variant +1 more)	Obesity	GLikely pathogenic
Select item 2630467	NM_138711.6(PPARG):c.43A>T (p.Ile15Phe)	PPARG (I15F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901544	NM_138711.6(PPARG):c.56A>C (p.Asp19Ala)	PPARG (D21A +2 more)	Single nucleotide variant (missense variant +1 more)	Obesity +2 more	GUncertain significance
Select item 3004774	NM_138711.6(PPARG):c.57T>G (p.Asp19Glu)	PPARG (D19E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720030	NM_138711.6(PPARG):c.63C>T (p.Ser21=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2634503	NM_138711.6(PPARG):c.64G>A (p.Val22Ile)	PPARG (V22I +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 2557567	NM_138711.6(PPARG):c.73G>A (p.Asp25Asn)	PPARG (D27N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2664791	NM_138711.6(PPARG):c.78C>G (p.His26Gln)	PPARG (H26Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inherited obesity	GUncertain significance
Select item 2719983	NM_138711.6(PPARG):c.99G>A (p.Lys33=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3051279	NM_138711.6(PPARG):c.132T>A (p.Ser44=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3217014	NM_138711.6(PPARG):c.133A>G (p.Thr45Ala)	PPARG (T47A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 436395	NM_138711.6(PPARG):c.145G>A (p.Glu49Lys)	PPARG (E51K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 342920	NM_138711.6(PPARG):c.150C>T (p.Asp50=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related familial partial lipodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 2220596	NM_138711.6(PPARG):c.160A>C (p.Thr54Pro)	PPARG (T56P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1969349	NM_138711.6(PPARG):c.181G>A (p.Ala61Thr)	PPARG (A61T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 342921	NM_138711.6(PPARG):c.198C>T (p.Asp66=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +2 more	GUncertain significance
Select item 1378153	NM_138711.6(PPARG):c.210A>G (p.Gln70=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3023898	NM_138711.6(PPARG):c.220+15T>C	PPARG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3035411	NM_138711.6(PPARG):c.243A>G (p.Ala81=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 8130	NM_138711.6(PPARG):c.248C>A (p.Pro83Gln)	PPARG (P85Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412803	NM_138711.6(PPARG):c.258T>G (p.Tyr86Ter)	PPARG (Y116* +2 more)	Single nucleotide variant (nonsense +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 2228309	NM_138711.6(PPARG):c.268A>T (p.Thr90Ser)	PPARG (T90S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057367	NM_138711.6(PPARG):c.273G>A (p.Gln91=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 2298300	NM_138711.6(PPARG):c.305A>C (p.Asn102Thr)	PPARG (N132T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2755604	NM_138711.6(PPARG):c.312C>G (p.Leu104=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578156	NM_138711.6(PPARG):c.315G>C (p.Met105Ile)	PPARG (M105I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2734442	NM_138711.6(PPARG):c.329G>A (p.Arg110His)	PPARG (R112H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2634817	NM_138711.6(PPARG):c.331G>A (p.Val111Ile)	PPARG (V111I +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 342922	NM_138711.6(PPARG):c.348T>C (p.Ala116=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1098721	NM_138711.6(PPARG):c.353G>A (p.Gly118Glu)	PPARG (G118E +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 2780019	NM_138711.6(PPARG):c.359A>G (p.His120Arg)	PPARG (H120R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1070305	NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys)	PPARG (Y121C +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 436406	NM_138711.6(PPARG):c.380A>G (p.Glu127Gly)	PPARG (E129G +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 2844285	NM_138711.6(PPARG):c.389A>T (p.Lys130Met)	PPARG (K132M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757507	NM_138711.6(PPARG):c.390+7A>T	PPARG	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1243128	NM_138711.6(PPARG):c.390+123G>C	PPARG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273109	NM_138711.6(PPARG):c.390+250del	PPARG	Deletion (intron variant)	not provided	GBenign
Select item 1261529	NM_138711.6(PPARG):c.390+276T>C	PPARG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178861	NM_138711.6(PPARG):c.391-43G>C	PPARG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1952169	NM_138711.6(PPARG):c.391-9C>T	PPARG	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2877096	NM_138711.6(PPARG):c.391-5dup	PPARG	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 3037104	NM_138711.6(PPARG):c.391-6T>C	PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 342923	NM_138711.6(PPARG):c.391-3C>T	PPARG	Single nucleotide variant (intron variant)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 436396	NM_138711.6(PPARG):c.392G>T (p.Gly131Val)	PPARG (G133V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 901054	NM_138711.6(PPARG):c.393T>C (p.Gly131=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 747186	NM_138711.6(PPARG):c.402G>T (p.Arg134=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +1 more	GLikely benign
Select item 342924	NM_138711.6(PPARG):c.417G>A (p.Leu139=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related familial partial lipodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1909413	NM_138711.6(PPARG):c.420G>C (p.Lys140Asn)	PPARG (K140N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1479536	NM_138711.6(PPARG):c.428A>G (p.Tyr143Cys)	PPARG (Y145C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 901055	NM_138711.6(PPARG):c.431A>G (p.Asp144Gly)	PPARG (D146G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1607706	NM_138711.6(PPARG):c.432C>T (p.Asp144=)	PPARG (T2I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3039994	NM_138711.6(PPARG):c.441T>C (p.Asp147=)	PPARG (I5T)	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 1337344	NM_138711.6(PPARG):c.452G>A (p.Arg151Gln)	PPARG (G9R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2984411	NM_138711.6(PPARG):c.457C>T (p.His153Tyr)	PPARG (H155Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8132	NM_138711.6(PPARG):c.466del (p.Ser156fs)	PPARG (S186fs +2 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 8140	NM_138711.6(PPARG):c.464_466delinsT (p.Lys155fs)	PPARG (K13fs +3 more)	Indel (frameshift variant)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +1 more	GPathogenic
Select item 2175038	NM_138711.6(PPARG):c.466A>G (p.Ser156Gly)	PPARG (S156G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8143	NM_138711.6(PPARG):c.478T>A (p.Cys160Ser)	PPARG (C190S +3 more)	Single nucleotide variant (missense variant)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 8144	NM_138711.6(PPARG):c.490C>T (p.Arg164Trp)	PPARG (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 436397	NM_138711.6(PPARG):c.491G>A (p.Arg164Gln)	PPARG (R166Q +3 more)	Single nucleotide variant (missense variant)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 1337832	NM_138711.6(PPARG):c.520T>C (p.Ser174Pro)	PPARG (S174P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1644072	NM_138711.6(PPARG):c.529+13T>C	PPARG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233710	NM_138711.6(PPARG):c.530-228G>T	LOC114803475, PPARG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3061592	NM_138711.6(PPARG):c.530-7T>A	LOC114803475, PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 1285541	NM_138711.6(PPARG):c.530-1G>A	LOC114803475, PPARG	Single nucleotide variant (splice acceptor variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 1327159	NM_138711.6(PPARG):c.545_550dup (p.Arg182_Met183dup)	LOC114803475, PPARG	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1341522	NM_138711.6(PPARG):c.544C>T (p.Arg182Trp)	LOC114803475, PPARG (R182W +2 more)	Single nucleotide variant (missense variant +1 more)	Carotid intimal medial thickness 1 +2 more	GConflicting classifications of pathogenicity
Select item 436398	NM_138711.6(PPARG):c.545G>A (p.Arg182Gln)	LOC114803475, PPARG (R184Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 798271	NM_138711.6(PPARG):c.558C>T (p.Ala186=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 211954	NM_138711.6(PPARG):c.579G>A (p.Ala193=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2305646	NM_138711.6(PPARG):c.590G>A (p.Ser197Asn)	LOC114803475, PPARG (S197N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2734443	NM_138711.6(PPARG):c.598G>A (p.Asp200Asn)	LOC114803475, PPARG (D230N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 983029	NM_138711.6(PPARG):c.614_615del (p.Glu205fs)	LOC114803475, PPARG (E205fs +2 more)	Microsatellite (frameshift variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 976149	NM_138711.6(PPARG):c.614_616delinsC (p.Glu205fs)	LOC114803475, PPARG (E205fs +2 more)	Indel (frameshift variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 3057658	NM_138711.6(PPARG):c.618C>T (p.Ser206=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 2893058	NM_138711.6(PPARG):c.619G>A (p.Ala207Thr)	LOC114803475, PPARG (A237T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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