12339[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 323

<< First< Prev

Page of 4

	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 3183275	NM_003307.4(TRPM2):c.143G>T (p.Cys48Phe)	LOC130066825, TRPM2 (C48F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331939	NM_003307.4(TRPM2):c.151G>A (p.Gly51Ser)	LOC130066825, TRPM2 (G51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329003	NM_003307.4(TRPM2):c.182C>T (p.Ser61Leu)	TRPM2 (S61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545554	NM_003307.4(TRPM2):c.257A>G (p.Lys86Arg)	TRPM2 (K86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183292	NM_003307.4(TRPM2):c.281C>A (p.Thr94Lys)	TRPM2 (T94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300061	NM_003307.4(TRPM2):c.329G>A (p.Gly110Asp)	TRPM2 (G110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785673	NM_003307.4(TRPM2):c.348G>A (p.Lys116=)	TRPM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2306439	NM_003307.4(TRPM2):c.352C>T (p.His118Tyr)	TRPM2 (H118Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735922	NM_003307.4(TRPM2):c.393C>T (p.Val131=)	TRPM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 785674	NM_003307.4(TRPM2):c.399G>A (p.Thr133=)	TRPM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1244296	NM_003307.4(TRPM2):c.424-269=	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176432	NM_003307.4(TRPM2):c.439C>T (p.Gln147Ter)	TRPM2 (Q147*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2527469	NM_003307.4(TRPM2):c.455G>A (p.Ser152Asn)	TRPM2 (S152N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719307	NM_003307.4(TRPM2):c.457G>A (p.Val153Met)	TRPM2 (V153M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 777642	NM_003307.4(TRPM2):c.496G>A (p.Val166Ile)	TRPM2 (V166I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3329215	NM_003307.4(TRPM2):c.544A>G (p.Met182Val)	TRPM2 (M182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183311	NM_003307.4(TRPM2):c.607G>T (p.Ala203Ser)	TRPM2 (A203S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380036	NM_003307.4(TRPM2):c.623G>C (p.Gly208Ala)	TRPM2 (G208A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347440	NM_003307.4(TRPM2):c.701G>T (p.Gly234Val)	TRPM2 (G234V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329206	NM_003307.4(TRPM2):c.730T>G (p.Trp244Gly)	TRPM2 (W244G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183312	NM_003307.4(TRPM2):c.748C>A (p.Arg250Ser)	TRPM2 (R250S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469332	NM_003307.4(TRPM2):c.748C>G (p.Arg250Gly)	TRPM2 (R250G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737242	NM_003307.4(TRPM2):c.771+8C>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2406586	NM_003307.4(TRPM2):c.784G>A (p.Ala262Thr)	TRPM2 (A262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742884	NM_003307.4(TRPM2):c.841_843del (p.His281del)	TRPM2 (H281del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2357354	NM_003307.4(TRPM2):c.859G>A (p.Val287Met)	TRPM2 (V287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603354	NM_003307.4(TRPM2):c.862G>T (p.Asp288Tyr)	TRPM2 (D288Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183313	NM_003307.4(TRPM2):c.867C>G (p.Asp289Glu)	TRPM2 (D289E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652745	NM_003307.4(TRPM2):c.1014C>T (p.His338=)	TRPM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1278466	NM_003307.4(TRPM2):c.1014+287C>A	TRPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3183272	NM_003307.4(TRPM2):c.1028C>A (p.Ala343Asp)	TRPM2 (A343D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711762	NM_003307.4(TRPM2):c.1031C>T (p.Thr344Ile)	TRPM2 (T344I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3183273	NM_003307.4(TRPM2):c.1039G>A (p.Gly347Ser)	TRPM2 (G347S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609534	NM_003307.4(TRPM2):c.1043C>G (p.Thr348Ser)	TRPM2 (T348S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515410	NM_003307.4(TRPM2):c.1046C>G (p.Pro349Arg)	TRPM2 (P349R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329205	NM_003307.4(TRPM2):c.1067C>T (p.Ser356Leu)	TRPM2 (S356L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715203	NM_003307.4(TRPM2):c.1153G>A (p.Val385Met)	TRPM2 (V385M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2601706	NM_003307.4(TRPM2):c.1184C>T (p.Thr395Met)	TRPM2 (T395M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614395	NM_003307.4(TRPM2):c.1207A>G (p.Thr403Ala)	TRPM2 (T403A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312059	NM_003307.4(TRPM2):c.1231C>T (p.Arg411Trp)	TRPM2 (R411W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719600	NM_003307.4(TRPM2):c.1235G>A (p.Arg412Lys)	TRPM2 (R412K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3183274	NM_003307.4(TRPM2):c.1238G>A (p.Arg413Gln)	TRPM2 (R413Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393669	NM_003307.4(TRPM2):c.1273G>T (p.Gly425Cys)	TRPM2 (G425C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742885	NM_003307.4(TRPM2):c.1279C>T (p.Gln427Ter)	TRPM2 (Q427*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2271935	NM_003307.4(TRPM2):c.1336C>A (p.His446Asn)	TRPM2 (H446N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620744	NM_003307.4(TRPM2):c.1354T>G (p.Trp452Gly)	TRPM2 (W452G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553389	NM_003307.4(TRPM2):c.1357G>A (p.Asp453Asn)	TRPM2 (D453N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652746	NM_003307.4(TRPM2):c.1380G>A (p.Val460=)	TRPM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2232475	NM_003307.4(TRPM2):c.1391G>A (p.Arg464His)	TRPM2 (R464H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652747	NM_003307.4(TRPM2):c.1405C>T (p.Arg469Cys)	TRPM2 (R469C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3329213	NM_003307.4(TRPM2):c.1576C>G (p.Leu526Val)	TRPM2 (L526V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183276	NM_003307.4(TRPM2):c.1582C>G (p.Pro528Ala)	TRPM2 (P528A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209429	NM_003307.4(TRPM2):c.1582C>T (p.Pro528Ser)	TRPM2 (P528S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556429	NM_003307.4(TRPM2):c.1636C>A (p.Arg546Ser)	TRPM2 (R546S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590703	NM_003307.4(TRPM2):c.1658C>T (p.Ala553Val)	TRPM2 (A553V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248976	NM_003307.4(TRPM2):c.1681G>A (p.Val561Met)	TRPM2 (V561M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355984	NM_003307.4(TRPM2):c.1735C>T (p.Arg579Trp)	TRPM2 (R579W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332585	NM_003307.4(TRPM2):c.1736G>A (p.Arg579Gln)	TRPM2 (R579Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329208	NM_003307.4(TRPM2):c.1741C>T (p.Arg581Trp)	TRPM2 (R581W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

<< First< Prev

Page of 4