ClinVar for MedGen (Select 383652) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444015	NM_001017995.3(SH3PXD2B):c.1012+1G>T	SH3PXD2B	Single nucleotide variant (splice donor variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 1711139	NM_001017995.3(SH3PXD2B):c.452C>T (p.Pro151Leu)	SH3PXD2B (P151L)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 1325065	NM_001017995.3(SH3PXD2B):c.567G>A (p.Trp189Ter)	SH3PXD2B (W189*)	Single nucleotide variant (nonsense)	Frank-Ter Haar syndrome	GLikely pathogenic
Select item 1244919	NM_001017995.3(SH3PXD2B):c.1013-27A>G	SH3PXD2B	Single nucleotide variant (intron variant)	Frank-Ter Haar syndrome +1 more	GBenign
Select item 1062918	NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp)	SH3PXD2B (R539W)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome +1 more	GUncertain significance
Select item 916348	NM_001017995.3(SH3PXD2B):c.2592C>A (p.Asp864Glu)	SH3PXD2B (D864E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 907388	NM_001017995.3(SH3PXD2B):c.-167C>G	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 907387	NM_001017995.3(SH3PXD2B):c.-162C>G	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907386	NM_001017995.3(SH3PXD2B):c.-130C>G	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907385	NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907322	NM_001017995.3(SH3PXD2B):c.1027A>G (p.Arg343Gly)	SH3PXD2B (R343G)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907261	NM_001017995.3(SH3PXD2B):c.2374C>T (p.Pro792Ser)	SH3PXD2B (P792S)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907260	NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	Frank-Ter Haar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 907259	NM_001017995.3(SH3PXD2B):c.2487C>T (p.Thr829=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907195	NM_001017995.3(SH3PXD2B):c.*877G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907194	NM_001017995.3(SH3PXD2B):c.*902G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907193	NM_001017995.3(SH3PXD2B):c.*1199T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907129	NM_001017995.3(SH3PXD2B):c.*2203T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907128	NM_001017995.3(SH3PXD2B):c.*2262G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907127	NM_001017995.3(SH3PXD2B):c.*2275G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907126	NM_001017995.3(SH3PXD2B):c.*2355G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907073	NM_001017995.3(SH3PXD2B):c.*3191C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907072	NM_001017995.3(SH3PXD2B):c.*3226C>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907071	NM_001017995.3(SH3PXD2B):c.*3227C>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 907015	NM_001017995.3(SH3PXD2B):c.*4773G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906383	NM_001017995.3(SH3PXD2B):c.233-14C>G	SH3PXD2B	Single nucleotide variant (intron variant)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 906382	NM_001017995.3(SH3PXD2B):c.274G>A (p.Val92Ile)	SH3PXD2B (V92I)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906381	NM_001017995.3(SH3PXD2B):c.427+14C>T	SH3PXD2B	Single nucleotide variant (intron variant)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 906312	NM_001017995.3(SH3PXD2B):c.1088C>T (p.Pro363Leu)	SH3PXD2B (P363L)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome +1 more	GUncertain significance
Select item 906311	NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	Frank-Ter Haar syndrome +2 more	GConflicting classifications of pathogenicity
Select item 906264	NM_001017995.3(SH3PXD2B):c.2601C>G (p.Thr867=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906263	NM_001017995.3(SH3PXD2B):c.*158G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906262	NM_001017995.3(SH3PXD2B):c.*171G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 906261	NM_001017995.3(SH3PXD2B):c.*300G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906200	NM_001017995.3(SH3PXD2B):c.*1379T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906135	NM_001017995.3(SH3PXD2B):c.*2449G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906134	NM_001017995.3(SH3PXD2B):c.*2469C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906133	NM_001017995.3(SH3PXD2B):c.*2538T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 906132	NM_001017995.3(SH3PXD2B):c.*2592G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 906069	NM_001017995.3(SH3PXD2B):c.*3327A>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906068	NM_001017995.3(SH3PXD2B):c.*3358G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906067	NM_001017995.3(SH3PXD2B):c.*3388C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906066	NM_001017995.3(SH3PXD2B):c.*3411G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 906065	NM_001017995.3(SH3PXD2B):c.*3595G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905871	NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905803	NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr)	SH3PXD2B (A498T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 905802	NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 905801	NM_001017995.3(SH3PXD2B):c.1610T>G (p.Leu537Arg)	SH3PXD2B (L537R)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905800	NM_001017995.3(SH3PXD2B):c.1616G>A (p.Arg539Gln)	SH3PXD2B (R539Q)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome +1 more	GUncertain significance
Select item 905748	NM_001017995.3(SH3PXD2B):c.*600G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905684	NM_001017995.3(SH3PXD2B):c.*1478T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 905683	NM_001017995.3(SH3PXD2B):c.*1633C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905682	NM_001017995.3(SH3PXD2B):c.*1692G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905619	NM_001017995.3(SH3PXD2B):c.*2666G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 905618	NM_001017995.3(SH3PXD2B):c.*2684G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905617	NM_001017995.3(SH3PXD2B):c.*2740A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905616	NM_001017995.3(SH3PXD2B):c.*2825C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905559	NM_001017995.3(SH3PXD2B):c.*3629C>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 905558	NM_001017995.3(SH3PXD2B):c.*3643A>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905557	NM_001017995.3(SH3PXD2B):c.*3714C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905556	NM_001017995.3(SH3PXD2B):c.*3858G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 905555	NM_001017995.3(SH3PXD2B):c.*3989G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 904769	NM_001017995.3(SH3PXD2B):c.*4102G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 904768	NM_001017995.3(SH3PXD2B):c.*4266G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 904767	NM_001017995.3(SH3PXD2B):c.*4489C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903990	NM_001017995.3(SH3PXD2B):c.899T>C (p.Leu300Ser)	SH3PXD2B (L300S)	Single nucleotide variant (missense variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903989	NM_001017995.3(SH3PXD2B):c.913C>T (p.Arg305Trp)	SH3PXD2B (R305W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 903988	NM_001017995.3(SH3PXD2B):c.926C>T (p.Ala309Val)	SH3PXD2B (A309V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 903987	NM_001017995.3(SH3PXD2B):c.966C>T (p.Asp322=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 903986	NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu)	SH3PXD2B (P329L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 903917	NM_001017995.3(SH3PXD2B):c.1671G>A (p.Pro557=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903916	NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser)	SH3PXD2B (G558S)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome +2 more	GBenign/Likely benign
Select item 903915	NM_001017995.3(SH3PXD2B):c.1984G>A (p.Asp662Asn)	SH3PXD2B (D662N)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903914	NM_001017995.3(SH3PXD2B):c.2079C>G (p.Asp693Glu)	SH3PXD2B (D693E)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903854	NM_001017995.3(SH3PXD2B):c.*698C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903780	NM_001017995.3(SH3PXD2B):c.*1751T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903779	NM_001017995.3(SH3PXD2B):c.*1862G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903778	NM_001017995.3(SH3PXD2B):c.*1862G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903777	NM_001017995.3(SH3PXD2B):c.*1913C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903776	NM_001017995.3(SH3PXD2B):c.*1928A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903775	NM_001017995.3(SH3PXD2B):c.*2031C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903701	NM_001017995.3(SH3PXD2B):c.*2826G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 903700	NM_001017995.3(SH3PXD2B):c.*2888G>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 903699	NM_001017995.3(SH3PXD2B):c.*3114A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 800857	NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe)	SH3PXD2B (I560F)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 792021	NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala)	SH3PXD2B (T445A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 737175	NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs)	SH3PXD2B (F876fs)	Deletion (frameshift variant +1 more)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 727112	NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=)	SH3PXD2B	Single nucleotide variant (synonymous variant +1 more)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 547887	NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln)	SH3PXD2B (R468Q)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome +1 more	GUncertain significance
Select item 501675	NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu)	SH3PXD2B (P730L)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome +1 more	GUncertain significance
Select item 499846	NM_001017995.3(SH3PXD2B):c.1063-7G>T	SH3PXD2B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497282	NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln)	SH3PXD2B (R698Q)	Single nucleotide variant (missense variant +1 more)	Frank-Ter Haar syndrome +1 more	GUncertain significance
Select item 352833	NM_001017995.3(SH3PXD2B):c.-79C>A	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 352832	NM_001017995.3(SH3PXD2B):c.-67C>T	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	Frank-Ter Haar syndrome +1 more	GBenign
Select item 352831	NM_001017995.3(SH3PXD2B):c.-56C>G	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	Frank-Ter Haar syndrome +1 more	GBenign
Select item 352830	NM_001017995.3(SH3PXD2B):c.-40C>T	SH3PXD2B	Single nucleotide variant (5 prime UTR variant)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352829	NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352828	NM_001017995.3(SH3PXD2B):c.76-4G>A	SH3PXD2B	Single nucleotide variant (intron variant)	Frank-Ter Haar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 352827	NM_001017995.3(SH3PXD2B):c.232+4G>A	SH3PXD2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 352826	NM_001017995.3(SH3PXD2B):c.427+14C>G	SH3PXD2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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