DIP2A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 254

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59069	GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1	C21orf58, COL6A1 +52 more	Copy number loss	See cases	GPathogenic
Select item 148754	GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3	C21orf58, COL6A1 +44 more	Copy number gain	See cases	GLikely benign
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 57251	GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1	C21orf58, DIP2A +34 more	Copy number loss	See cases	GUncertain significance
Select item 150905	GRCh38/hg38 21q22.3(chr21:46416432-46568690)x3	DIP2A, DIP2A-IT1 +7 more	Copy number gain	See cases	GLikely benign
Select item 3082419	NM_015151.4(DIP2A):c.27G>C (p.Glu9Asp)	DIP2A (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053234	NM_015151.4(DIP2A):c.91+8G>A	DIP2A, LOC130066882	Single nucleotide variant (intron variant)	DIP2A-related disorder	GLikely benign
Select item 2652830	NM_015151.4(DIP2A):c.109G>A (p.Gly37Arg)	DIP2A (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377576	NM_015151.4(DIP2A):c.128C>G (p.Ala43Gly)	DIP2A (A43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060043	NM_015151.4(DIP2A):c.174A>G (p.Pro58=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3031750	NM_015151.4(DIP2A):c.189G>T (p.Glu63Asp)	DIP2A (E63D)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 2409858	NM_015151.4(DIP2A):c.193A>G (p.Arg65Gly)	DIP2A (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516500	NM_015151.4(DIP2A):c.256G>A (p.Ala86Thr)	DIP2A (A86T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311224	NM_015151.4(DIP2A):c.278G>T (p.Arg93Leu)	DIP2A (R93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314904	NM_015151.4(DIP2A):c.371T>C (p.Val124Ala)	DIP2A (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603202	NM_015151.4(DIP2A):c.377C>T (p.Ser126Leu)	DIP2A (S126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652831	NM_015151.4(DIP2A):c.378G>A (p.Ser126=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358573	NM_015151.4(DIP2A):c.440G>A (p.Arg147Gln)	DIP2A (R147Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600371	NM_015151.4(DIP2A):c.443G>A (p.Arg148Gln)	DIP2A (R148Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082429	NM_015151.4(DIP2A):c.458C>T (p.Thr153Ile)	DIP2A (T153I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570054	NM_015151.4(DIP2A):c.467C>T (p.Pro156Leu)	DIP2A (P156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537437	NM_015151.4(DIP2A):c.516G>C (p.Gln172His)	DIP2A (Q172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272092	NM_015151.4(DIP2A):c.557A>C (p.His186Pro)	DIP2A (H186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205624	NM_015151.4(DIP2A):c.623C>T (p.Ala208Val)	DIP2A (A208V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464379	NM_015151.4(DIP2A):c.694G>A (p.Val232Met)	DIP2A (V233M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487285	NM_015151.4(DIP2A):c.701A>G (p.His234Arg)	DIP2A (H151R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082430	NM_015151.4(DIP2A):c.704C>T (p.Ser235Leu)	DIP2A (S152L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082431	NM_015151.4(DIP2A):c.787G>A (p.Val263Ile)	DIP2A (V180I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348463	NM_015151.4(DIP2A):c.842A>C (p.Lys281Thr)	DIP2A (K198T +3 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 2429832	NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)	DIP2A (K201Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2302129	NM_015151.4(DIP2A):c.854G>A (p.Arg285His)	DIP2A (R202H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463438	NM_015151.4(DIP2A):c.976A>C (p.Thr326Pro)	DIP2A (T283P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082432	NM_015151.4(DIP2A):c.995C>G (p.Pro332Arg)	DIP2A (P333R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361089	NM_015151.4(DIP2A):c.995C>T (p.Pro332Leu)	DIP2A (P328L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043705	NM_015151.4(DIP2A):c.998C>T (p.Pro333Leu)	DIP2A (P250L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781523	NM_015151.4(DIP2A):c.999G>A (p.Pro333=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247099	NM_015151.4(DIP2A):c.1012A>G (p.Thr338Ala)	DIP2A (T338A +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 760984	NM_015151.4(DIP2A):c.1021C>T (p.Arg341Cys)	DIP2A (R337C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3055869	NM_015151.4(DIP2A):c.1115G>A (p.Ser372Asn)	DIP2A (S289N +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GBenign
Select item 2537602	NM_015151.4(DIP2A):c.1234A>G (p.Met412Val)	DIP2A (M408V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038865	NM_015151.4(DIP2A):c.1283T>C (p.Ile428Thr)	DIP2A (I345T +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GLikely benign
Select item 2264300	NM_015151.4(DIP2A):c.1367C>T (p.Thr456Ile)	DIP2A (T373I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749967	NM_015151.4(DIP2A):c.1374C>T (p.Asp458=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429948	NM_015151.4(DIP2A):c.1429+2T>G	DIP2A	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 801425	NM_015151.4(DIP2A):c.1431T>G (p.Gly477=)	DIP2A	Single nucleotide variant (synonymous variant)	Long QT syndrome	GUncertain significance
Select item 2220164	NM_015151.4(DIP2A):c.1439C>T (p.Pro480Leu)	DIP2A (P481L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619912	NM_015151.4(DIP2A):c.1559G>A (p.Gly520Asp)	DIP2A (G477D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236710	NM_015151.4(DIP2A):c.1579G>C (p.Val527Leu)	DIP2A (V528L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360162	NM_015151.4(DIP2A):c.1609C>T (p.Arg537Trp)	DIP2A (R494W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082408	NM_015151.4(DIP2A):c.1610G>A (p.Arg537Gln)	DIP2A (R537Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 597276	NM_015151.4(DIP2A):c.1677G>A (p.Arg559=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3052486	NM_015151.4(DIP2A):c.1707+7G>A	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GLikely benign
Select item 3052984	NM_015151.4(DIP2A):c.1708-5C>G	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GBenign
Select item 3353263	NM_015151.4(DIP2A):c.1804C>T (p.Arg602Trp)	DIP2A (R519W +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 3082409	NM_015151.4(DIP2A):c.1810G>A (p.Ala604Thr)	DIP2A (A521T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555264	NM_015151.4(DIP2A):c.1811C>T (p.Ala604Val)	DIP2A (A600V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082410	NM_015151.4(DIP2A):c.1831A>G (p.Met611Val)	DIP2A (M607V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3