ClinVar for Gene (Select 9889) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 224

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191823	NM_014838.3(ZBED4):c.736G>A (p.Gly246Ser)	ALG12, ZBED4 (G246S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191822	NM_014838.3(ZBED4):c.650C>T (p.Pro217Leu)	ALG12, ZBED4 (P217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191821	NM_014838.3(ZBED4):c.409A>G (p.Met137Val)	ALG12, ZBED4 (M137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191819	NM_014838.3(ZBED4):c.373T>A (p.Phe125Ile)	ALG12, ZBED4 (F125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191818	NM_014838.3(ZBED4):c.3376C>T (p.Pro1126Ser)	ALG12, ZBED4 (P1126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191817	NM_014838.3(ZBED4):c.328C>T (p.Arg110Trp)	ALG12, ZBED4 (R110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191816	NM_014838.3(ZBED4):c.3178G>A (p.Ala1060Thr)	ALG12, ZBED4 (A1060T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191814	NM_014838.3(ZBED4):c.2884C>T (p.His962Tyr)	ALG12, ZBED4 (H962Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191813	NM_014838.3(ZBED4):c.2803C>T (p.Arg935Cys)	ALG12, ZBED4 (R935C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191811	NM_014838.3(ZBED4):c.212C>T (p.Pro71Leu)	ALG12, ZBED4 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191810	NM_014838.3(ZBED4):c.1948G>C (p.Asp650His)	ALG12, ZBED4 (D650H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191809	NM_014838.3(ZBED4):c.1874C>T (p.Pro625Leu)	ALG12, ZBED4 (P625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191808	NM_014838.3(ZBED4):c.176C>T (p.Ala59Val)	ALG12, ZBED4 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191807	NM_014838.3(ZBED4):c.1751G>A (p.Arg584Gln)	ALG12, ZBED4 (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191806	NM_014838.3(ZBED4):c.1595A>G (p.Glu532Gly)	ALG12, ZBED4 (E532G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191805	NM_014838.3(ZBED4):c.1552G>A (p.Ala518Thr)	ALG12, ZBED4 (A518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191803	NM_014838.3(ZBED4):c.1145A>G (p.Glu382Gly)	ALG12, ZBED4 (E382G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191802	NM_014838.3(ZBED4):c.1006C>T (p.Arg336Cys)	ALG12, ZBED4 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684940	GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	ALG12, BRD1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2620036	NM_014838.3(ZBED4):c.1912G>A (p.Ala638Thr)	ALG12, ZBED4 (A638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615939	NM_014838.3(ZBED4):c.682T>C (p.Ser228Pro)	ALG12, ZBED4 (S228P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611556	NM_014838.3(ZBED4):c.3407A>G (p.Asn1136Ser)	ALG12, ZBED4 (N1136S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604472	NM_014838.3(ZBED4):c.1392C>A (p.His464Gln)	ALG12, ZBED4 (H464Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2561422	NM_014838.3(ZBED4):c.1015G>A (p.Val339Met)	ALG12, ZBED4 (V339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554469	NM_014838.3(ZBED4):c.1931C>T (p.Thr644Ile)	ALG12, ZBED4 (T644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532410	NM_014838.3(ZBED4):c.227C>T (p.Ser76Phe)	ALG12, ZBED4 (S76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524969	NM_014838.3(ZBED4):c.1091C>T (p.Pro364Leu)	ALG12, ZBED4 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510143	NM_014838.3(ZBED4):c.15G>C (p.Leu5Phe)	ALG12, ZBED4 (L5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508306	NM_014838.3(ZBED4):c.1121C>T (p.Ser374Leu)	ALG12, ZBED4 (S374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497703	NM_014838.3(ZBED4):c.1006C>G (p.Arg336Gly)	ALG12, ZBED4 (R336G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495557	NM_014838.3(ZBED4):c.67A>C (p.Lys23Gln)	ALG12, ZBED4 (K23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484862	NM_014838.3(ZBED4):c.1357G>T (p.Val453Phe)	ALG12, ZBED4 (V453F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479607	NM_014838.3(ZBED4):c.551C>T (p.Ser184Phe)	ALG12, ZBED4 (S184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479181	NM_014838.3(ZBED4):c.901A>C (p.Asn301His)	ALG12, ZBED4 (N301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462487	NM_014838.3(ZBED4):c.1889C>T (p.Pro630Leu)	ALG12, ZBED4 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454428	NM_014838.3(ZBED4):c.721G>A (p.Val241Ile)	ALG12, ZBED4 (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	MLC1, MOV10L1 +31 more	Deletion	not provided	GPathogenic
Select item 2404740	NM_014838.3(ZBED4):c.3385G>A (p.Val1129Ile)	ALG12, ZBED4 (V1129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401794	NM_014838.3(ZBED4):c.716T>C (p.Met239Thr)	ALG12, ZBED4 (M239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381839	NM_014838.3(ZBED4):c.3158C>T (p.Ser1053Phe)	ALG12, ZBED4 (S1053F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380289	NM_014838.3(ZBED4):c.737G>A (p.Gly246Asp)	ALG12, ZBED4 (G246D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366494	NM_014838.3(ZBED4):c.3424G>A (p.Gly1142Ser)	ALG12, ZBED4 (G1142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362521	NM_014838.3(ZBED4):c.2576G>A (p.Arg859Gln)	ALG12, ZBED4 (R859Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359755	NM_014838.3(ZBED4):c.163G>A (p.Gly55Ser)	ALG12, ZBED4 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353380	NM_014838.3(ZBED4):c.14T>G (p.Leu5Trp)	ALG12, ZBED4 (L5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349721	NM_014838.3(ZBED4):c.2224G>C (p.Glu742Gln)	ALG12, ZBED4 (E742Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343990	NM_014838.3(ZBED4):c.1883G>A (p.Arg628Gln)	ALG12, ZBED4 (R628Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341457	NM_014838.3(ZBED4):c.1501C>G (p.Leu501Val)	ALG12, ZBED4 (L501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341061	NM_014838.3(ZBED4):c.1856C>T (p.Thr619Met)	ALG12, ZBED4 (T619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336807	NM_014838.3(ZBED4):c.586G>A (p.Ala196Thr)	ALG12, ZBED4 (A196T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326511	NM_014838.3(ZBED4):c.3031C>T (p.Arg1011Cys)	ALG12, ZBED4 (R1011C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322825	NM_014838.3(ZBED4):c.206A>G (p.Lys69Arg)	ALG12, ZBED4 (K69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321593	NM_014838.3(ZBED4):c.422A>G (p.Lys141Arg)	ALG12, ZBED4 (K141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313379	NM_014838.3(ZBED4):c.1432C>T (p.Arg478Trp)	ALG12, ZBED4 (R478W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312129	NM_014838.3(ZBED4):c.3100G>A (p.Glu1034Lys)	ALG12, ZBED4 (E1034K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311638	NM_014838.3(ZBED4):c.1301A>T (p.Asp434Val)	ALG12, ZBED4 (D434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309953	NM_014838.3(ZBED4):c.155C>T (p.Thr52Ile)	ALG12, ZBED4 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307761	NM_014838.3(ZBED4):c.3445C>T (p.Leu1149Phe)	ALG12, ZBED4 (L1149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296278	NM_014838.3(ZBED4):c.2759A>G (p.Glu920Gly)	ALG12, ZBED4 (E920G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293510	NM_014838.3(ZBED4):c.3113C>T (p.Ser1038Phe)	ALG12, ZBED4 (S1038F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292519	NM_014838.3(ZBED4):c.1589C>T (p.Ser530Phe)	ALG12, ZBED4 (S530F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291412	NM_014838.3(ZBED4):c.823C>A (p.Leu275Ile)	ALG12, ZBED4 (L275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276945	NM_014838.3(ZBED4):c.1094C>T (p.Pro365Leu)	ALG12, ZBED4 (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269587	NM_014838.3(ZBED4):c.1861C>G (p.Arg621Gly)	ALG12, ZBED4 (R621G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269394	NM_014838.3(ZBED4):c.2665C>G (p.Pro889Ala)	ALG12, ZBED4 (P889A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267005	NM_014838.3(ZBED4):c.2616G>C (p.Glu872Asp)	ALG12, ZBED4 (E872D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261894	NM_014838.3(ZBED4):c.1324G>A (p.Glu442Lys)	ALG12, ZBED4 (E442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258057	NM_014838.3(ZBED4):c.2935G>A (p.Asp979Asn)	ALG12, ZBED4 (D979N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253348	NM_014838.3(ZBED4):c.1433G>A (p.Arg478Gln)	ALG12, ZBED4 (R478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249313	NM_014838.3(ZBED4):c.2597C>T (p.Ala866Val)	ALG12, ZBED4 (A866V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246879	NM_014838.3(ZBED4):c.1037C>T (p.Thr346Met)	ALG12, ZBED4 (T346M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245654	NM_014838.3(ZBED4):c.1333G>A (p.Ala445Thr)	ALG12, ZBED4 (A445T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243134	NM_014838.3(ZBED4):c.2584C>T (p.Arg862Trp)	ALG12, ZBED4 (R862W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243067	NM_014838.3(ZBED4):c.37G>A (p.Gly13Ser)	ALG12, ZBED4 (G13S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242390	NM_014838.3(ZBED4):c.2020T>G (p.Ser674Ala)	ALG12, ZBED4 (S674A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235558	NM_014838.3(ZBED4):c.804G>C (p.Glu268Asp)	ALG12, ZBED4 (E268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234492	NM_014838.3(ZBED4):c.1609A>C (p.Lys537Gln)	ALG12, ZBED4 (K537Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205274	NM_014838.3(ZBED4):c.1262G>A (p.Gly421Glu)	ALG12, ZBED4 (G421E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	ACR, ADM2 +33 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1526746	GRCh37/hg19 22q13.33(chr22:49976054-50346635)	ALG12, BRD1 +2 more	Copy number gain	not specified	GUncertain significance

<< First< Prev

Page of 3