Related gene-specific medical variations for Gene (Select 79755) - ClinVar

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

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259417	NM_024702.3(ZNF750):c.1309G>A (p.Ala437Thr)	TBCD, ZNF750 (A437T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259416	NM_024702.3(ZNF750):c.505A>G (p.Arg169Gly)	TBCD, ZNF750 (R169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259415	NM_024702.3(ZNF750):c.1409C>A (p.Ala470Asp)	TBCD, ZNF750 (A470D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259414	NM_024702.3(ZNF750):c.1955G>A (p.Gly652Asp)	TBCD, ZNF750 (G652D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259413	NM_024702.3(ZNF750):c.1172G>A (p.Gly391Glu)	TBCD, ZNF750 (G391E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259412	NM_024702.3(ZNF750):c.1403A>G (p.Gln468Arg)	TBCD, ZNF750 (Q468R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198124	NM_024702.3(ZNF750):c.593C>T (p.Ser198Leu)	TBCD, ZNF750 (S198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198123	NM_024702.3(ZNF750):c.553C>T (p.His185Tyr)	TBCD, ZNF750 (H185Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198122	NM_024702.3(ZNF750):c.308A>G (p.Gln103Arg)	TBCD, ZNF750 (Q103R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198121	NM_024702.3(ZNF750):c.304C>G (p.Leu102Val)	TBCD, ZNF750 (L102V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198120	NM_024702.3(ZNF750):c.280G>A (p.Gly94Arg)	TBCD, ZNF750 (G94R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198118	NM_024702.3(ZNF750):c.2111A>C (p.Lys704Thr)	TBCD, ZNF750 (K704T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198117	NM_024702.3(ZNF750):c.1984G>A (p.Ala662Thr)	TBCD, ZNF750 (A662T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198116	NM_024702.3(ZNF750):c.1931A>G (p.Tyr644Cys)	TBCD, ZNF750 (Y644C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198115	NM_024702.3(ZNF750):c.1610A>G (p.Gln537Arg)	TBCD, ZNF750 (Q537R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198114	NM_024702.3(ZNF750):c.1501G>T (p.Ala501Ser)	TBCD, ZNF750 (A501S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060437	NM_024702.3(ZNF750):c.863C>T (p.Pro288Leu)	TBCD, ZNF750 (P288L)	Single nucleotide variant (missense variant +1 more)	ZNF750-related disorder	GBenign
Select item 3060121	NM_024702.3(ZNF750):c.703A>G (p.Met235Val)	TBCD, ZNF750 (M235V)	Single nucleotide variant (missense variant +1 more)	ZNF750-related disorder	GBenign
Select item 3059214	NM_024702.3(ZNF750):c.525C>T (p.Asn175=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	ZNF750-related disorder	GBenign
Select item 3056258	NM_024702.3(ZNF750):c.828C>T (p.Tyr276=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	ZNF750-related disorder	GLikely benign
Select item 3047605	NM_024702.3(ZNF750):c.1125C>G (p.Val375=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	ZNF750-related disorder	GLikely benign
Select item 3039793	NM_024702.3(ZNF750):c.473G>A (p.Arg158Gln)	TBCD, ZNF750 (R158Q)	Single nucleotide variant (missense variant +1 more)	ZNF750-related disorder	GBenign
Select item 3024939	NM_024702.3(ZNF750):c.1245G>A (p.Pro415=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648502	NM_005993.5(TBCD):c.1318+17097C>T	TBCD, ZNF750 (A142T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648501	NM_024702.3(ZNF750):c.429G>A (p.Pro143=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648500	NM_024702.3(ZNF750):c.1644C>T (p.Asp548=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2569908	NM_024702.3(ZNF750):c.1699G>A (p.Ala567Thr)	TBCD, ZNF750 (A567T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555892	NM_024702.3(ZNF750):c.787G>A (p.Gly263Arg)	TBCD, ZNF750 (G263R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555718	NM_024702.3(ZNF750):c.1584C>G (p.His528Gln)	TBCD, ZNF750 (H528Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546640	NM_024702.3(ZNF750):c.1706C>G (p.Pro569Arg)	TBCD, ZNF750 (P569R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527918	NM_024702.3(ZNF750):c.2072G>A (p.Ser691Asn)	TBCD, ZNF750 (S691N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520984	NM_024702.3(ZNF750):c.1255G>A (p.Asp419Asn)	TBCD, ZNF750 (D419N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512322	NM_024702.3(ZNF750):c.1976C>T (p.Pro659Leu)	TBCD, ZNF750 (P659L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477029	NM_024702.3(ZNF750):c.328G>A (p.Asp110Asn)	TBCD, ZNF750 (D110N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475477	NM_024702.3(ZNF750):c.1210G>C (p.Ala404Pro)	TBCD, ZNF750 (A404P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469005	NM_024702.3(ZNF750):c.1898C>T (p.Thr633Met)	TBCD, ZNF750 (T633M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461580	NM_024702.3(ZNF750):c.1881C>A (p.Ser627Arg)	TBCD, ZNF750 (S627R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459238	NM_024702.3(ZNF750):c.2017A>G (p.Met673Val)	TBCD, ZNF750 (M673V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2436968	NM_005993.5(TBCD):c.1318+23870C>T	TBCD, ZNF750	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2403908	NM_024702.3(ZNF750):c.1715C>A (p.Pro572Gln)	TBCD, ZNF750 (P572Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399936	NM_024702.3(ZNF750):c.1597C>G (p.Gln533Glu)	TBCD, ZNF750 (Q533E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388861	NM_024702.3(ZNF750):c.1906G>A (p.Val636Met)	TBCD, ZNF750 (V636M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382923	NM_024702.3(ZNF750):c.1519G>A (p.Asp507Asn)	TBCD, ZNF750 (D507N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376385	NM_024702.3(ZNF750):c.1067T>A (p.Val356Asp)	TBCD, ZNF750 (V356D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372255	NM_024702.3(ZNF750):c.565G>A (p.Ala189Thr)	TBCD, ZNF750 (A189T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371180	NM_024702.3(ZNF750):c.1321G>A (p.Ala441Thr)	TBCD, ZNF750 (A441T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2357888	NM_024702.3(ZNF750):c.496G>A (p.Gly166Ser)	TBCD, ZNF750 (G166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354730	NM_024702.3(ZNF750):c.1420G>A (p.Ala474Thr)	TBCD, ZNF750 (A474T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321469	NM_024702.3(ZNF750):c.769T>C (p.Ser257Pro)	TBCD, ZNF750 (S257P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319556	NM_024702.3(ZNF750):c.2109G>C (p.Lys703Asn)	TBCD, ZNF750 (K703N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318649	NM_024702.3(ZNF750):c.694T>A (p.Ser232Thr)	TBCD, ZNF750 (S232T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316550	NM_024702.3(ZNF750):c.269C>T (p.Ser90Phe)	TBCD, ZNF750 (S90F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288283	NM_024702.3(ZNF750):c.1238G>A (p.Gly413Glu)	TBCD, ZNF750 (G413E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286962	NM_024702.3(ZNF750):c.256G>A (p.Ala86Thr)	TBCD, ZNF750 (A86T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283635	NM_024702.3(ZNF750):c.1238G>C (p.Gly413Ala)	TBCD, ZNF750 (G413A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282150	NM_024702.3(ZNF750):c.2066G>C (p.Arg689Thr)	TBCD, ZNF750 (R689T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279893	NM_024702.3(ZNF750):c.1813G>A (p.Asp605Asn)	TBCD, ZNF750 (D605N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270543	NM_024702.3(ZNF750):c.2012G>A (p.Ser671Asn)	TBCD, ZNF750 (S671N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259260	NM_024702.3(ZNF750):c.19C>T (p.Arg7Trp)	TBCD, ZNF750 (R7W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209640	NM_024702.3(ZNF750):c.595G>A (p.Ala199Thr)	TBCD, ZNF750 (A199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208741	NM_024702.3(ZNF750):c.1100C>T (p.Pro367Leu)	TBCD, ZNF750 (P367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204887	NM_024702.3(ZNF750):c.1733C>G (p.Ala578Gly)	TBCD, ZNF750 (A578G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1803730	NM_024702.3(ZNF750):c.39_49del (p.His13fs)	TBCD, ZNF750 (H13fs)	Deletion (frameshift variant +1 more)	Seborrhea-like dermatitis with psoriasiform elements	GUncertain significance
Select item 1290639	NM_024702.3(ZNF750):c.1062C>T (p.Thr354=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1270210	NM_024702.3(ZNF750):c.-182-260A>G	TBCD, ZNF750	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249122	NM_024702.3(ZNF750):c.*127CAAA[4]	TBCD, ZNF750	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1244569	NM_024702.3(ZNF750):c.-182-99T>C	TBCD, ZNF750	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237571	NM_024702.3(ZNF750):c.-112A>C	TBCD, ZNF750	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1227535	NM_005993.5(TBCD):c.1318+17578G>A	TBCD, ZNF750	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1178591	NM_024702.3(ZNF750):c.1698T>C (p.Pro566=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1177929	NM_024702.3(ZNF750):c.1725A>G (p.Ala575=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 784372	NM_024702.3(ZNF750):c.1432G>A (p.Val478Ile)	TBCD, ZNF750 (V478I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781338	NM_024702.3(ZNF750):c.1464T>G (p.Pro488=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773594	NM_005993.5(TBCD):c.1318+16692C>T	ZNF750, TBCD (G277R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 727854	NM_024702.3(ZNF750):c.2018T>A (p.Met673Lys)	TBCD, ZNF750 (M673K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 720410	NM_024702.3(ZNF750):c.1970C>G (p.Ala657Gly)	TBCD, ZNF750 (A657G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 717465	NM_024702.3(ZNF750):c.1305C>G (p.Asn435Lys)	TBCD, ZNF750 (N435K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714866	NM_024702.3(ZNF750):c.365C>A (p.Thr122Asn)	TBCD, ZNF750 (T122N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714865	NM_024702.3(ZNF750):c.495C>T (p.Val165=)	TBCD, ZNF750	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713023	NM_024702.3(ZNF750):c.1437-8T>G	TBCD, ZNF750	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711216	NM_024702.3(ZNF750):c.277A>G (p.Asn93Asp)	TBCD, ZNF750 (N93D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1295	NM_024702.3(ZNF750):c.55_56dup (p.Gly20fs)	TBCD, ZNF750 (G20fs)	Duplication (frameshift variant +1 more)	Seborrhea-like dermatitis with psoriasiform elements	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: 82