Related gene-specific medical variations for Gene (Select 9889) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333819	NM_014838.3(ZBED4):c.1773G>T (p.Lys591Asn)	ALG12, ZBED4 (K591N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333817	NM_014838.3(ZBED4):c.1055A>T (p.Tyr352Phe)	ALG12, ZBED4 (Y352F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333816	NM_014838.3(ZBED4):c.1577C>T (p.Ala526Val)	ALG12, ZBED4 (A526V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333815	NM_014838.3(ZBED4):c.1034G>A (p.Gly345Asp)	ALG12, ZBED4 (G345D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333814	NM_014838.3(ZBED4):c.1528G>A (p.Gly510Arg)	ALG12, ZBED4 (G510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333813	NM_014838.3(ZBED4):c.2214C>A (p.Asn738Lys)	ALG12, ZBED4 (N738K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333812	NM_014838.3(ZBED4):c.1124C>T (p.Ser375Phe)	ALG12, ZBED4 (S375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333811	NM_014838.3(ZBED4):c.1882C>T (p.Arg628Trp)	ALG12, ZBED4 (R628W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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)	ZBED4, ALG12 (G421E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786702	NM_014838.3(ZBED4):c.177G>A (p.Ala59=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782764	NM_014838.3(ZBED4):c.2430C>T (p.Asn810=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779993	NM_014838.3(ZBED4):c.1725A>G (p.Thr575=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777762	NM_014838.3(ZBED4):c.3449T>C (p.Met1150Thr)	ALG12, ZBED4 (M1150T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770477	NM_014838.3(ZBED4):c.2472C>T (p.Ser824=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769165	NM_014838.3(ZBED4):c.3423C>T (p.Asn1141=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 599527	NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter)	ALG12, ZBED4 (R58*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91