LOC126860805[gene] - ClinVar

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Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59397	GRCh38/hg38 10p15.3(chr10:14062-622709)x1	DIP2C, LOC102723376 +14 more	Copy number loss	See cases	GUncertain significance
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150117	GRCh38/hg38 10p15.3(chr10:70478-770688)x1	DIP2C, DIP2C-AS1 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 148516	GRCh38/hg38 10p15.3(chr10:70478-457520)x1	DIP2C, LOC124403897 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 153334	GRCh38/hg38 10p15.3(chr10:113358-557294)x1	DIP2C, LOC106783507 +10 more	Copy number loss	See cases	GUncertain significance
Select item 57851	GRCh38/hg38 10p15.3(chr10:180143-550594)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 153860	GRCh38/hg38 10p15.3(chr10:200071-415409)x3	DIP2C, LOC126860802 +7 more	Copy number gain	See cases	GUncertain significance
Select item 144219	GRCh38/hg38 10p15.3(chr10:202524-405073)x3	DIP2C, LOC126860802 +7 more	Copy number gain	See cases	GBenign
Select item 155262	GRCh38/hg38 10p15.3(chr10:232912-578344)x4	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57852	GRCh38/hg38 10p15.3(chr10:248232-587589)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	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 3007836	NM_014974.3(DIP2C):c.3453+14C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413797	NM_014974.3(DIP2C):c.3453+10del	LOC126860805, DIP2C	Deletion (intron variant)	not provided	GBenign
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 2847320	NM_014974.3(DIP2C):c.3435G>A (p.Gly1145=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous 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 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 3035275	NM_014974.3(DIP2C):c.3411C>T (p.Leu1137=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	DIP2C-related disorder	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 1495927	NM_014974.3(DIP2C):c.3391C>T (p.Pro1131Ser)	DIP2C, LOC126860805 (P1131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1476276	NM_014974.3(DIP2C):c.3374T>G (p.Ile1125Ser)	DIP2C, LOC126860805 (I1125S)	Single nucleotide variant (missense variant)	not provided	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 1927414	NM_014974.3(DIP2C):c.3373A>T (p.Ile1125Phe)	DIP2C, LOC126860805 (I1125F)	Single nucleotide variant (missense variant)	not provided	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 2991715	NM_014974.3(DIP2C):c.3362G>T (p.Arg1121Leu)	DIP2C, LOC126860805 (R1121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2011410	NM_014974.3(DIP2C):c.3344-9C>T	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923441	NM_014974.3(DIP2C):c.3343+18A>G	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788898	NM_014974.3(DIP2C):c.3343+14C>T	DIP2C, LOC126860805	Single nucleotide variant (intron 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 2120391	NM_014974.3(DIP2C):c.3323_3341dup (p.Asp1115fs)	DIP2C, LOC126860805 (D1115fs)	Duplication (frameshift 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 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 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 2127089	NM_014974.3(DIP2C):c.3312C>T (p.Asp1104=)	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 2915240	NM_014974.3(DIP2C):c.3303G>A (p.Ala1101=)	DIP2C, LOC126860805	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 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 2908087	NM_014974.3(DIP2C):c.3300G>A (p.Ala1100=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1653711	NM_014974.3(DIP2C):c.3297G>A (p.Ala1099=)	DIP2C, LOC126860805	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 2990970	NM_014974.3(DIP2C):c.3289A>C (p.Arg1097=)	DIP2C, LOC126860805	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 1642792	NM_014974.3(DIP2C):c.3283C>A (p.Arg1095=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1669454	NM_014974.3(DIP2C):c.3258G>A (p.Thr1086=)	DIP2C, LOC126860805	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 1988745	NM_014974.3(DIP2C):c.3234G>T (p.Val1078=)	DIP2C, LOC126860805	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990971	NM_014974.3(DIP2C):c.3232-4C>T	DIP2C, LOC126860805	Single nucleotide variant (intron 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 2716278	NM_014974.3(DIP2C):c.3232-10C>G	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028283	NM_014974.3(DIP2C):c.3232-20T>A	DIP2C, LOC126860805	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 69