CD2BP2-DT[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 155318	GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3	ALDOA, ASPHD1 +77 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 2522591	NM_015527.4(TBC1D10B):c.2408G>A (p.Arg803Gln)	CD2BP2-DT, TBC1D10B (R803Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467337	NM_015527.4(TBC1D10B):c.2362C>T (p.Pro788Ser)	CD2BP2-DT, TBC1D10B (P788S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487622	NM_015527.4(TBC1D10B):c.2357A>G (p.Asp786Gly)	CD2BP2-DT, TBC1D10B (D786G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174408	NM_015527.4(TBC1D10B):c.2356G>A (p.Asp786Asn)	CD2BP2-DT, TBC1D10B (D786N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2559605	NM_015527.4(TBC1D10B):c.2342T>C (p.Leu781Pro)	CD2BP2-DT, TBC1D10B (L781P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291224	NM_015527.4(TBC1D10B):c.2339C>T (p.Ser780Leu)	CD2BP2-DT, TBC1D10B (S780L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223592	NM_015527.4(TBC1D10B):c.2330G>A (p.Arg777Gln)	CD2BP2-DT, TBC1D10B (R777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559607	NM_015527.4(TBC1D10B):c.2284A>G (p.Lys762Glu)	CD2BP2-DT, TBC1D10B (K762E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174407	NM_015527.4(TBC1D10B):c.2283G>C (p.Glu761Asp)	CD2BP2-DT, TBC1D10B (E761D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2597060	NM_015527.4(TBC1D10B):c.2225G>T (p.Arg742Leu)	CD2BP2-DT, TBC1D10B (R742L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2344939	NM_015527.4(TBC1D10B):c.2225G>A (p.Arg742Gln)	CD2BP2-DT, TBC1D10B (R742Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347098	NM_015527.4(TBC1D10B):c.2224C>T (p.Arg742Trp)	CD2BP2-DT, TBC1D10B (R742W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324586	NM_015527.4(TBC1D10B):c.2216A>G (p.Glu739Gly)	CD2BP2-DT, TBC1D10B (E739G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2219085	NM_015527.4(TBC1D10B):c.2215G>A (p.Glu739Lys)	CD2BP2-DT, TBC1D10B (E739K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174406	NM_015527.4(TBC1D10B):c.2203C>T (p.Arg735Trp)	CD2BP2-DT, TBC1D10B (R735W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373074	NM_015527.4(TBC1D10B):c.2182C>T (p.Arg728Trp)	CD2BP2-DT, TBC1D10B (R728W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324582	NM_015527.4(TBC1D10B):c.2165G>A (p.Arg722Gln)	CD2BP2-DT, TBC1D10B (R722Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174405	NM_015527.4(TBC1D10B):c.2164C>T (p.Arg722Trp)	CD2BP2-DT, TBC1D10B (R722W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345818	NM_015527.4(TBC1D10B):c.2047G>A (p.Val683Ile)	CD2BP2-DT, TBC1D10B (V683I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174404	NM_015527.4(TBC1D10B):c.2044C>A (p.Pro682Thr)	CD2BP2-DT, TBC1D10B (P682T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174403	NM_015527.4(TBC1D10B):c.2041C>T (p.Pro681Ser)	CD2BP2-DT, TBC1D10B (P681S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464220	NM_015527.4(TBC1D10B):c.2017G>T (p.Ala673Ser)	CD2BP2-DT, TBC1D10B (A673S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520566	NM_015527.4(TBC1D10B):c.1942C>T (p.Arg648Trp)	CD2BP2-DT, TBC1D10B (R648W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2590206	NM_015527.4(TBC1D10B):c.1939C>T (p.Arg647Trp)	CD2BP2-DT, TBC1D10B (R647W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174401	NM_015527.4(TBC1D10B):c.1937G>A (p.Arg646His)	CD2BP2-DT, TBC1D10B (R646H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2532515	NM_015527.4(TBC1D10B):c.1936C>T (p.Arg646Cys)	CD2BP2-DT, TBC1D10B (R646C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174400	NM_015527.4(TBC1D10B):c.1822G>C (p.Ala608Pro)	CD2BP2-DT, TBC1D10B (A608P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2231803	NM_015527.4(TBC1D10B):c.1805A>G (p.Asn602Ser)	CD2BP2-DT, TBC1D10B (N602S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495551	NM_015527.4(TBC1D10B):c.1798G>A (p.Val600Met)	CD2BP2-DT, TBC1D10B (V600M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1301733	NM_015527.4(TBC1D10B):c.1773G>A (p.Met591Ile)	CD2BP2-DT, TBC1D10B (M591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345755	NM_015527.4(TBC1D10B):c.1763A>G (p.Gln588Arg)	CD2BP2-DT, TBC1D10B (Q588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219932	NM_015527.4(TBC1D10B):c.1751G>A (p.Arg584His)	CD2BP2-DT, TBC1D10B (R584H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333252	NM_015527.4(TBC1D10B):c.1734G>C (p.Glu578Asp)	CD2BP2-DT, TBC1D10B (E578D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174399	NM_015527.4(TBC1D10B):c.1681C>T (p.Arg561Cys)	CD2BP2-DT, TBC1D10B (R561C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2489928	NM_015527.4(TBC1D10B):c.1607C>T (p.Ser536Leu)	CD2BP2-DT, TBC1D10B (S536L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 59991	GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	CD2BP2-DT, DCTPP1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2299072	NM_015527.4(TBC1D10B):c.1529G>A (p.Arg510Gln)	CD2BP2-DT, TBC1D10B (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384710	NM_015527.4(TBC1D10B):c.1508C>T (p.Pro503Leu)	CD2BP2-DT, TBC1D10B (P503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174398	NM_015527.4(TBC1D10B):c.1382C>T (p.Ala461Val)	CD2BP2-DT, TBC1D10B (A461V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174397	NM_015527.4(TBC1D10B):c.1358C>T (p.Ala453Val)	CD2BP2-DT, TBC1D10B (A453V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 46