9711[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 184

<< First< Prev

Page of 2

	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 3149924	NM_005049.3(PWP2):c.30G>C (p.Leu10Phe)	PWP2 (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311764	NM_005049.3(PWP2):c.47G>A (p.Arg16Gln)	PWP2 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303612	NM_005049.3(PWP2):c.50G>A (p.Arg17His)	PWP2 (R17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149927	NM_005049.3(PWP2):c.74A>G (p.Asp25Gly)	PWP2 (D25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149905	NM_005049.3(PWP2):c.115G>C (p.Val39Leu)	PWP2 (V39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299505	NM_005049.3(PWP2):c.152C>T (p.Pro51Leu)	PWP2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280278	NM_005049.3(PWP2):c.164G>A (p.Arg55Gln)	PWP2 (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149916	NM_005049.3(PWP2):c.194C>T (p.Pro65Leu)	PWP2 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395817	NM_005049.3(PWP2):c.218T>C (p.Val73Ala)	PWP2 (V73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353598	NM_005049.3(PWP2):c.236C>T (p.Ala79Val)	LOC121853021, PWP2 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149923	NM_005049.3(PWP2):c.251T>C (p.Leu84Pro)	LOC121853021, PWP2 (L84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509063	NM_005049.3(PWP2):c.254T>C (p.Val85Ala)	LOC121853021, PWP2 (V85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343311	NM_005049.3(PWP2):c.293C>T (p.Ser98Phe)	LOC121853021, PWP2 (S98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268137	NM_005049.3(PWP2):c.352A>C (p.Ile118Leu)	PWP2 (I118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149925	NM_005049.3(PWP2):c.371C>T (p.Ala124Val)	PWP2 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594340	NM_005049.3(PWP2):c.373C>T (p.Pro125Ser)	PWP2 (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325807	NM_005049.3(PWP2):c.397G>C (p.Ala133Pro)	PWP2 (A133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311768	NM_005049.3(PWP2):c.446G>A (p.Cys149Tyr)	PWP2 (C149Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311769	NM_005049.3(PWP2):c.461A>C (p.Asp154Ala)	PWP2 (D154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229684	NM_005049.3(PWP2):c.565G>A (p.Asp189Asn)	PWP2 (D189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480734	NM_005049.3(PWP2):c.640A>C (p.Met214Leu)	PWP2 (M214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311766	NM_005049.3(PWP2):c.689C>T (p.Ala230Val)	PWP2 (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149926	NM_005049.3(PWP2):c.710T>C (p.Leu237Ser)	PWP2 (L237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600005	NM_005049.3(PWP2):c.754G>A (p.Asp252Asn)	PWP2 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149928	NM_005049.3(PWP2):c.770T>A (p.Ile257Asn)	PWP2 (I257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149929	NM_005049.3(PWP2):c.788C>T (p.Pro263Leu)	PWP2 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149930	NM_005049.3(PWP2):c.793G>A (p.Glu265Lys)	PWP2 (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311762	NM_005049.3(PWP2):c.827G>A (p.Arg276Gln)	PWP2 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149931	NM_005049.3(PWP2):c.848A>G (p.Asn283Ser)	PWP2 (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616828	NM_005049.3(PWP2):c.870C>A (p.Asn290Lys)	PWP2 (N290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262955	NM_005049.3(PWP2):c.956A>C (p.Glu319Ala)	PWP2 (E319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248474	NM_005049.3(PWP2):c.991C>A (p.Gln331Lys)	PWP2 (Q331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149932	NM_005049.3(PWP2):c.998T>C (p.Ile333Thr)	PWP2 (I333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225740	NM_005049.3(PWP2):c.1103A>G (p.Lys368Arg)	PWP2 (K368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149906	NM_005049.3(PWP2):c.1162A>C (p.Ile388Leu)	PWP2 (I388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311765	NM_005049.3(PWP2):c.1225G>A (p.Val409Ile)	PWP2 (V409I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149907	NM_005049.3(PWP2):c.1235C>T (p.Thr412Met)	PWP2 (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149908	NM_005049.3(PWP2):c.1238A>G (p.Glu413Gly)	PWP2 (E413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149909	NM_005049.3(PWP2):c.1261G>T (p.Val421Leu)	PWP2 (V421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275790	NM_005049.3(PWP2):c.1309G>A (p.Gly437Arg)	PWP2 (G437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376501	NM_005049.3(PWP2):c.1313C>G (p.Thr438Ser)	PWP2 (T438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149910	NM_005049.3(PWP2):c.1370G>A (p.Arg457His)	PWP2 (R457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242098	NM_005049.3(PWP2):c.1417G>A (p.Val473Ile)	PWP2 (V473I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377238	NM_005049.3(PWP2):c.1435G>A (p.Asp479Asn)	PWP2 (D479N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149912	NM_005049.3(PWP2):c.1462A>C (p.Met488Leu)	PWP2 (M488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311767	NM_005049.3(PWP2):c.1465C>G (p.Gln489Glu)	PWP2 (Q489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149913	NM_005049.3(PWP2):c.1550C>T (p.Ala517Val)	PWP2 (A517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149914	NM_005049.3(PWP2):c.1568A>G (p.Lys523Arg)	PWP2 (K523R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277096	NM_005049.3(PWP2):c.1756G>A (p.Asp586Asn)	PWP2 (D586N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396595	NM_005049.3(PWP2):c.1793C>T (p.Thr598Ile)	PWP2 (T598I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149915	NM_005049.3(PWP2):c.1805C>T (p.Ala602Val)	PWP2 (A602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513702	NM_005049.3(PWP2):c.1885G>A (p.Val629Met)	PWP2 (V629M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333875	NM_005049.3(PWP2):c.1900G>A (p.Val634Ile)	PWP2 (V634I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219011	NM_005049.3(PWP2):c.1903C>T (p.Arg635Cys)	PWP2 (R635C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338487	NM_005049.3(PWP2):c.1915C>G (p.Leu639Val)	PWP2 (L639V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253453	NM_005049.3(PWP2):c.1930G>A (p.Glu644Lys)	PWP2 (E644K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149917	NM_005049.3(PWP2):c.2017G>C (p.Asp673His)	PWP2 (D673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149918	NM_005049.3(PWP2):c.2065G>A (p.Val689Ile)	PWP2 (V689I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2