Related gene-specific medical variations for Gene (Select 22982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344338	NM_014974.3(DIP2C):c.3313G>T (p.Val1105Phe)	DIP2C, LOC126860805 (V1105F)	Single nucleotide variant (missense variant)	DIP2C-related disorder	GUncertain significance
Select item 3342783	NM_014974.3(DIP2C):c.3422T>G (p.Val1141Gly)	DIP2C, LOC126860805 (V1141G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3272102	NM_014974.3(DIP2C):c.3414C>G (p.Asp1138Glu)	DIP2C, LOC126860805 (D1138E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244991	NC_000010.10:g.(?_735414)_(735518_?)dup	DIP2C	Duplication	not provided	GUncertain significance
Select item 3082454	NM_014974.3(DIP2C):c.2425A>G (p.Ile809Val)	DIP2C, LOC126860806 (I809V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035275	NM_014974.3(DIP2C):c.3411C>T (p.Leu1137=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	DIP2C-related disorder	GLikely benign
Select item 3023644	NM_014974.3(DIP2C):c.804G>A (p.Pro268=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009836	NM_014974.3(DIP2C):c.2404C>T (p.Arg802Cys)	DIP2C, LOC126860806 (R802C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007836	NM_014974.3(DIP2C):c.3453+14C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001802	NM_014974.3(DIP2C):c.2343G>A (p.Val781=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991715	NM_014974.3(DIP2C):c.3362G>T (p.Arg1121Leu)	DIP2C, LOC126860805 (R1121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990971	NM_014974.3(DIP2C):c.3232-4C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990970	NM_014974.3(DIP2C):c.3289A>C (p.Arg1097=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915240	NM_014974.3(DIP2C):c.3303G>A (p.Ala1101=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908280	NM_014974.3(DIP2C):c.3349T>C (p.Leu1117=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908087	NM_014974.3(DIP2C):c.3300G>A (p.Ala1100=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901011	NM_014974.3(DIP2C):c.2439G>A (p.Ala813=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886580	NM_014974.3(DIP2C):c.3303G>C (p.Ala1101=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886021	NM_014974.3(DIP2C):c.3294GGC[5] (p.Ala1102_Val1103insAla)	DIP2C, LOC126860805	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2862727	NM_014974.3(DIP2C):c.2397_2398dup (p.Ser800fs)	DIP2C, LOC126860806 (S800fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2847320	NM_014974.3(DIP2C):c.3435G>A (p.Gly1145=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813886	NM_014974.3(DIP2C):c.803C>T (p.Pro268Leu)	DIP2C, LOC126860807 (P268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802636	NM_014974.3(DIP2C):c.2378T>C (p.Met793Thr)	DIP2C, LOC126860806 (M793T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788898	NM_014974.3(DIP2C):c.3343+14C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787466	NM_014974.3(DIP2C):c.3427A>G (p.Thr1143Ala)	DIP2C, LOC126860805 (T1143A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781323	NM_014974.3(DIP2C):c.2466C>T (p.Val822=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777983	NM_014974.3(DIP2C):c.2385C>A (p.Gly795=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748825	NM_014974.3(DIP2C):c.798A>G (p.Lys266=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731392	NM_014974.3(DIP2C):c.2290G>C (p.Gly764Arg)	DIP2C, LOC126860806 (G764R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729725	NM_014974.3(DIP2C):c.3302C>T (p.Ala1101Val)	DIP2C, LOC126860805 (A1101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2723576	NM_014974.3(DIP2C):c.800G>A (p.Arg267Gln)	DIP2C, LOC126860807 (R267Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721964	NM_014974.3(DIP2C):c.3265C>A (p.Leu1089Met)	DIP2C, LOC126860805 (L1089M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716278	NM_014974.3(DIP2C):c.3232-10C>G	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2624157	NM_014974.3(DIP2C):c.2452C>T (p.Pro818Ser)	DIP2C, LOC126860806 (P818S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613365	NM_014974.3(DIP2C):c.2296C>A (p.Pro766Thr)	DIP2C, LOC126860806 (P766T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2419407	NM_014974.3(DIP2C):c.2436T>C (p.Thr812=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414434	NM_014974.3(DIP2C):c.2368G>A (p.Val790Met)	LOC126860806, DIP2C (V790M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413797	NM_014974.3(DIP2C):c.3453+10del	LOC126860805, DIP2C	Deletion (intron variant)	not provided	GBenign
Select item 2305885	NM_014974.3(DIP2C):c.2321G>A (p.Arg774Lys)	DIP2C, LOC126860806 (R774K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2282774	NM_014974.3(DIP2C):c.821G>A (p.Arg274Gln)	DIP2C, LOC126860807 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272659	NM_014974.3(DIP2C):c.3448G>A (p.Val1150Ile)	DIP2C, LOC126860805 (V1150I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257941	NM_014974.3(DIP2C):c.3367G>C (p.Ala1123Pro)	DIP2C, LOC126860805 (A1123P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175565	NM_014974.3(DIP2C):c.3373A>C (p.Ile1125Leu)	DIP2C, LOC126860805 (I1125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162224	NM_014974.3(DIP2C):c.2477+9C>T	DIP2C, LOC126860806	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2150264	NM_014974.3(DIP2C):c.2340C>T (p.Phe780=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148358	NM_014974.3(DIP2C):c.2424C>T (p.Asp808=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130910	NM_014974.3(DIP2C):c.3389A>G (p.Asn1130Ser)	DIP2C, LOC126860805 (N1130S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127089	NM_014974.3(DIP2C):c.3312C>T (p.Asp1104=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120391	NM_014974.3(DIP2C):c.3323_3341dup (p.Asp1115fs)	DIP2C, LOC126860805 (D1115fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2084335	NM_014974.3(DIP2C):c.2367G>A (p.Val789=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081483	NM_014974.3(DIP2C):c.837T>C (p.Asp279=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057878	NM_014974.3(DIP2C):c.2297C>T (p.Pro766Leu)	DIP2C, LOC126860806 (P766L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038773	NM_014974.3(DIP2C):c.2365G>A (p.Val789Met)	DIP2C, LOC126860806 (V789M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028283	NM_014974.3(DIP2C):c.3232-20T>A	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017220	NM_014974.3(DIP2C):c.2470C>A (p.Arg824=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011410	NM_014974.3(DIP2C):c.3344-9C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996587	NM_014974.3(DIP2C):c.2477+17A>C	DIP2C, LOC126860806	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995945	NM_014974.3(DIP2C):c.806A>G (p.Lys269Arg)	DIP2C, LOC126860807 (K269R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988745	NM_014974.3(DIP2C):c.3234G>T (p.Val1078=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961888	NM_014974.3(DIP2C):c.780G>A (p.Gln260=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952714	NM_014974.3(DIP2C):c.2365G>C (p.Val789Leu)	DIP2C, LOC126860806 (V789L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941858	NM_014974.3(DIP2C):c.2439G>T (p.Ala813=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930425	NM_014974.3(DIP2C):c.3232-8G>C	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929455	NM_014974.3(DIP2C):c.2349C>T (p.Pro783=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928535	NM_014974.3(DIP2C):c.3257C>T (p.Thr1086Met)	DIP2C, LOC126860805 (T1086M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927414	NM_014974.3(DIP2C):c.3373A>T (p.Ile1125Phe)	DIP2C, LOC126860805 (I1125F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926183	NM_014974.3(DIP2C):c.3453+17C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924021	NM_014974.3(DIP2C):c.2293G>A (p.Ala765Thr)	DIP2C, LOC126860806 (A765T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923441	NM_014974.3(DIP2C):c.3343+18A>G	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911407	NM_014974.3(DIP2C):c.2477+16C>T	DIP2C, LOC126860806	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907438	NM_014974.3(DIP2C):c.2445C>T (p.Ala815=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905010	NM_014974.3(DIP2C):c.3343+9T>C	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901867	NM_014974.3(DIP2C):c.740-20C>T	LOC126860807, DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900967	NM_014974.3(DIP2C):c.2418C>T (p.Ala806=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716836	NM_014974.3(DIP2C):c.3289A>G (p.Arg1097Gly)	DIP2C, LOC126860805 (R1097G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708040	NM_014974.3(DIP2C):c.786dup (p.Asn263fs)	DIP2C, LOC126860807 (N263fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1669454	NM_014974.3(DIP2C):c.3258G>A (p.Thr1086=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653711	NM_014974.3(DIP2C):c.3297G>A (p.Ala1099=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646207	NM_014974.3(DIP2C):c.740-19G>A	DIP2C, LOC126860807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642792	NM_014974.3(DIP2C):c.3283C>A (p.Arg1095=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639138	NM_014974.3(DIP2C):c.2475A>G (p.Gly825=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1608764	NM_014974.3(DIP2C):c.2477+10G>A	DIP2C, LOC126860806	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599479	NM_014974.3(DIP2C):c.2405G>A (p.Arg802His)	DIP2C, LOC126860806 (R802H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1598131	NM_014974.3(DIP2C):c.2421C>T (p.Asp807=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594263	NM_014974.3(DIP2C):c.834C>T (p.Val278=)	DIP2C, LOC126860807	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587129	NM_014974.3(DIP2C):c.3320C>T (p.Thr1107Met)	DIP2C, LOC126860805 (T1107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1571697	NM_014974.3(DIP2C):c.2313A>T (p.Pro771=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564792	NM_014974.3(DIP2C):c.2298G>T (p.Pro766=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558719	NM_014974.3(DIP2C):c.3397A>G (p.Thr1133Ala)	DIP2C, LOC126860805 (T1133A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1530261	NM_014974.3(DIP2C):c.2325A>G (p.Thr775=)	DIP2C, LOC126860806	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1495927	NM_014974.3(DIP2C):c.3391C>T (p.Pro1131Ser)	DIP2C, LOC126860805 (P1131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490321	NM_014974.3(DIP2C):c.2341G>A (p.Val781Met)	DIP2C, LOC126860806 (V781M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476276	NM_014974.3(DIP2C):c.3374T>G (p.Ile1125Ser)	DIP2C, LOC126860805 (I1125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454560	NM_014974.3(DIP2C):c.2415C>T (p.Asn805=)	LOC126860806, DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424605	NM_014974.3(DIP2C):c.3296C>T (p.Ala1099Val)	DIP2C, LOC126860805 (A1099V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405269	NM_014974.3(DIP2C):c.2290G>A (p.Gly764Arg)	DIP2C, LOC126860806 (G764R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402999	NM_014974.3(DIP2C):c.3299C>T (p.Ala1100Val)	DIP2C, LOC126860805 (A1100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395418	NM_014974.3(DIP2C):c.3328C>T (p.Leu1110Phe)	DIP2C, LOC126860805 (L1110F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381373	NM_014974.3(DIP2C):c.748G>A (p.Val250Ile)	DIP2C, LOC126860807 (V250I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353144	NM_014974.3(DIP2C):c.825A>C (p.Glu275Asp)	DIP2C, LOC126860807 (E275D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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