SH3PXD2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 3036134	NC_000005.10:g.172325268C>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant)	SH3PXD2B-related disorder	GLikely benign
Select item 3030642	NM_001308175.2(SH3PXD2B):c.1257A>G (p.Ala419=)	SH3PXD2B	Single nucleotide variant (synonymous variant)	SH3PXD2B-related disorder	GLikely benign
Select item 217131	NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del	SH3PXD2B	Deletion	Frank-Ter Haar syndrome	GPathogenic
Select item 352724	NM_001017995.3(SH3PXD2B):c.*4828dup	SH3PXD2B	Duplication (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352726	NM_001017995.3(SH3PXD2B):c.*4828T>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352725	NM_001017995.3(SH3PXD2B):c.*4828del	SH3PXD2B	Deletion (intron variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352727	NM_001017995.3(SH3PXD2B):c.*4827T>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352728	NM_001017995.3(SH3PXD2B):c.*4805G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352729	NM_001017995.3(SH3PXD2B):c.*4804T>C	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352730	NM_001017995.3(SH3PXD2B):c.*4736A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352731	NM_001017995.3(SH3PXD2B):c.*4693C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352732	NM_001017995.3(SH3PXD2B):c.4665_4668del	SH3PXD2B	Deletion (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352733	NM_001017995.3(SH3PXD2B):c.*4561G>A	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 352734	NM_001017995.3(SH3PXD2B):c.*4420A>G	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352735	NM_001017995.3(SH3PXD2B):c.*4328C>T	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352736	NM_001017995.3(SH3PXD2B):c.*4283G>A	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 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 352737	NM_001017995.3(SH3PXD2B):c.*4079C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352738	NM_001017995.3(SH3PXD2B):c.*4035G>A	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352739	NM_001017995.3(SH3PXD2B):c.*3936G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352740	NM_001017995.3(SH3PXD2B):c.*3935C>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 352741	NM_001017995.3(SH3PXD2B):c.*3815del	SH3PXD2B	Deletion (intron variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
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 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 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 352742	NM_001017995.3(SH3PXD2B):c.*3621G>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 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 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 352743	NM_001017995.3(SH3PXD2B):c.*3365A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352744	NM_001017995.3(SH3PXD2B):c.*3363T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352745	NM_001017995.3(SH3PXD2B):c.*3359C>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 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 352746	NM_001017995.3(SH3PXD2B):c.*3277T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352747	NM_001017995.3(SH3PXD2B):c.*3273G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 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 352748	NM_001017995.3(SH3PXD2B):c.*3202C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
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 352749	NM_001017995.3(SH3PXD2B):c.*3119T>C	SH3PXD2B	Single nucleotide variant (intron 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 352750	NM_001017995.3(SH3PXD2B):c.*3006C>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GLikely benign
Select item 352751	NM_001017995.3(SH3PXD2B):c.*2991T>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352752	NM_001017995.3(SH3PXD2B):c.*2956G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352753	NM_001017995.3(SH3PXD2B):c.*2930dup	SH3PXD2B	Duplication (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352754	NM_001017995.3(SH3PXD2B):c.*2885A>T	SH3PXD2B	Single nucleotide variant (intron 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 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 352755	NM_001017995.3(SH3PXD2B):c.*2798T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352756	NM_001017995.3(SH3PXD2B):c.*2783A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 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 352757	NM_001017995.3(SH3PXD2B):c.*2676G>A	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 352758	NM_001017995.3(SH3PXD2B):c.*2596A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352759	NM_001017995.3(SH3PXD2B):c.*2543A>G	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 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 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 352760	NM_001017995.3(SH3PXD2B):c.*2438A>G	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 352761	NM_001017995.3(SH3PXD2B):c.*2309A>T	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 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 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 352762	NM_001017995.3(SH3PXD2B):c.*2127A>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352763	NM_001017995.3(SH3PXD2B):c.*2066G>T	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352764	NM_001017995.3(SH3PXD2B):c.*2057T>C	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GBenign
Select item 352765	NM_001017995.3(SH3PXD2B):c.*2032G>A	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 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 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 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 352766	NM_001017995.3(SH3PXD2B):c.*1839dup	SH3PXD2B	Duplication (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352767	NM_001017995.3(SH3PXD2B):c.*1750T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352768	NM_001017995.3(SH3PXD2B):c.*1683T>C	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352769	NM_001017995.3(SH3PXD2B):c.*1607A>G	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352770	NM_001017995.3(SH3PXD2B):c.*1511A>G	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GBenign
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 352771	NM_001017995.3(SH3PXD2B):c.*1430G>A	SH3PXD2B	Single nucleotide variant (intron variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352772	NM_001017995.3(SH3PXD2B):c.*1429C>T	SH3PXD2B	Single nucleotide variant (intron 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 352773	NM_001017995.3(SH3PXD2B):c.*1346G>A	SH3PXD2B	Single nucleotide variant (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GUncertain significance
Select item 352774	NM_001017995.3(SH3PXD2B):c.1271_1272insG	SH3PXD2B	Insertion (3 prime UTR variant +1 more)	Frank-Ter Haar syndrome	GBenign

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