11868[HGNC] - ClinVar - NCBI

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	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 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 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 2534699	NM_003274.5(TRAPPC10):c.10T>C (p.Ser4Pro)	LOC130066806, TRAPPC10 (S4P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2584839	NM_003274.5(TRAPPC10):c.14A>G (p.Glu5Gly)	LOC130066806, TRAPPC10 (E5G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GUncertain significance
Select item 2377514	NM_003274.5(TRAPPC10):c.20C>T (p.Pro7Leu)	LOC130066806, TRAPPC10 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328514	NM_003274.5(TRAPPC10):c.28C>G (p.Pro10Ala)	LOC130066806, TRAPPC10 (P10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361213	NM_003274.5(TRAPPC10):c.29C>T (p.Pro10Leu)	LOC130066806, TRAPPC10 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362807	NM_003274.5(TRAPPC10):c.107C>T (p.Thr36Met)	TRAPPC10 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366805	NM_003274.5(TRAPPC10):c.121C>T (p.Leu41Phe)	TRAPPC10 (L41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034396	NM_003274.5(TRAPPC10):c.149+5G>C	TRAPPC10	Single nucleotide variant (intron variant)	TRAPPC10-related disorder	GLikely benign
Select item 2518503	NM_003274.5(TRAPPC10):c.392A>T (p.Asp131Val)	TRAPPC10 (D131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304838	NM_003274.5(TRAPPC10):c.394G>A (p.Ala132Thr)	TRAPPC10 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527318	NM_003274.5(TRAPPC10):c.480C>A (p.Asp160Glu)	TRAPPC10 (D160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181955	NM_003274.5(TRAPPC10):c.541G>A (p.Ala181Thr)	TRAPPC10 (A181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181956	NM_003274.5(TRAPPC10):c.640G>C (p.Glu214Gln)	TRAPPC10 (E214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493751	NM_003274.5(TRAPPC10):c.710A>G (p.Gln237Arg)	TRAPPC10 (Q237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251465	NM_003274.5(TRAPPC10):c.734A>G (p.Gln245Arg)	TRAPPC10 (Q245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455404	NM_003274.5(TRAPPC10):c.784G>T (p.Ala262Ser)	TRAPPC10 (A262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181957	NM_003274.5(TRAPPC10):c.787G>A (p.Gly263Arg)	TRAPPC10 (G263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342148	NM_003274.5(TRAPPC10):c.920G>A (p.Arg307His)	TRAPPC10 (R307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502439	NM_003274.5(TRAPPC10):c.940C>T (p.Gln314Ter)	TRAPPC10 (Q314*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GLikely pathogenic
Select item 2611836	NM_003274.5(TRAPPC10):c.997G>A (p.Glu333Lys)	TRAPPC10 (E333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300418	NM_003274.5(TRAPPC10):c.1124G>A (p.Arg375Gln)	TRAPPC10 (R375Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520024	NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu)	TRAPPC10 (G387E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2351482	NM_003274.5(TRAPPC10):c.1235A>T (p.Asn412Ile)	TRAPPC10 (N412I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2533506	NM_003274.5(TRAPPC10):c.1396A>T (p.Ile466Phe)	TRAPPC10 (I466F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2484357	NM_003274.5(TRAPPC10):c.1397T>C (p.Ile466Thr)	TRAPPC10 (I466T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2485204	NM_003274.5(TRAPPC10):c.1468A>C (p.Met490Leu)	TRAPPC10 (M490L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181936	NM_003274.5(TRAPPC10):c.1499T>C (p.Ile500Thr)	TRAPPC10 (I500T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181937	NM_003274.5(TRAPPC10):c.1504C>T (p.Leu502Phe)	TRAPPC10 (L35F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502438	NM_003274.5(TRAPPC10):c.1512_1513insAA (p.Ala505fs)	TRAPPC10 (A38fs +1 more)	Insertion (frameshift variant)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GLikely pathogenic
Select item 777625	NM_003274.5(TRAPPC10):c.1539C>T (p.Gly513=)	TRAPPC10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3181938	NM_003274.5(TRAPPC10):c.1585C>G (p.Gln529Glu)	TRAPPC10 (Q529E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330324	NM_003274.5(TRAPPC10):c.1598G>A (p.Gly533Glu)	TRAPPC10 (G533E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328518	NM_003274.5(TRAPPC10):c.1609A>G (p.Asn537Asp)	TRAPPC10 (N70D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218525	NM_003274.5(TRAPPC10):c.1666C>T (p.Arg556Cys)	TRAPPC10 (R556C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181939	NM_003274.5(TRAPPC10):c.1670A>G (p.Lys557Arg)	TRAPPC10 (K557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374931	NM_003274.5(TRAPPC10):c.1709C>T (p.Pro570Leu)	TRAPPC10 (P103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181940	NM_003274.5(TRAPPC10):c.1741C>T (p.Pro581Ser)	TRAPPC10 (P114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525241	NM_003274.5(TRAPPC10):c.1795G>A (p.Val599Met)	TRAPPC10 (V599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375095	NM_003274.5(TRAPPC10):c.1834A>G (p.Met612Val)	TRAPPC10 (M612V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328517	NM_003274.5(TRAPPC10):c.1978G>A (p.Glu660Lys)	TRAPPC10 (E193K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181941	NM_003274.5(TRAPPC10):c.2013G>C (p.Leu671Phe)	TRAPPC10 (L671F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257727	NM_003274.5(TRAPPC10):c.2047A>G (p.Ser683Gly)	TRAPPC10 (S216G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372128	NM_003274.5(TRAPPC10):c.2166G>T (p.Glu722Asp)	TRAPPC10 (E722D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181942	NM_003274.5(TRAPPC10):c.2302G>A (p.Val768Ile)	TRAPPC10 (V301I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516471	NM_003274.5(TRAPPC10):c.2302G>C (p.Val768Leu)	TRAPPC10 (V768L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309824	NM_003274.5(TRAPPC10):c.2372C>T (p.Pro791Leu)	TRAPPC10 (P791L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181943	NM_003274.5(TRAPPC10):c.2385C>G (p.Ser795Arg)	TRAPPC10 (S328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181944	NM_003274.5(TRAPPC10):c.2420C>G (p.Thr807Ser)	TRAPPC10 (T807S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626979	NM_003274.5(TRAPPC10):c.2441C>T (p.Thr814Met)	TRAPPC10 (T347M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3181945	NM_003274.5(TRAPPC10):c.2482G>A (p.Ala828Thr)	TRAPPC10 (A361T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181946	NM_003274.5(TRAPPC10):c.2485A>G (p.Met829Val)	TRAPPC10 (M362V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597969	NM_003274.5(TRAPPC10):c.2534C>T (p.Thr845Met)	TRAPPC10 (T378M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544709	NM_003274.5(TRAPPC10):c.2554G>T (p.Ala852Ser)	TRAPPC10 (A385S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265682	NM_003274.5(TRAPPC10):c.2558C>T (p.Ala853Val)	TRAPPC10 (A386V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457411	NM_003274.5(TRAPPC10):c.2578G>A (p.Asp860Asn)	TRAPPC10 (D393N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283722	NM_003274.5(TRAPPC10):c.2582A>G (p.Lys861Arg)	TRAPPC10 (K394R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048396	NM_003274.5(TRAPPC10):c.2623G>A (p.Val875Met)	TRAPPC10 (V408M +1 more)	Single nucleotide variant (missense variant)	TRAPPC10-related disorder	GLikely benign
Select item 2560467	NM_003274.5(TRAPPC10):c.2671C>G (p.Leu891Val)	TRAPPC10 (L424V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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