20060[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 59987	GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3	LOC130058650, LOC130058651 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 2646315	NM_020718.4(USP31):c.4018A>G (p.Ser1340Gly)	USP31 (S1300G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2463268	NM_020718.4(USP31):c.3971C>T (p.Pro1324Leu)	USP31 (P1324L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354076	NM_020718.4(USP31):c.3952T>A (p.Ser1318Thr)	USP31 (S1278T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343862	NM_020718.4(USP31):c.3938C>T (p.Ser1313Phe)	USP31 (S1313F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187405	NM_020718.4(USP31):c.3722C>T (p.Ser1241Leu)	USP31 (S1201L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187404	NM_020718.4(USP31):c.3719G>A (p.Arg1240His)	USP31 (R1200H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303545	NM_020718.4(USP31):c.3718C>T (p.Arg1240Cys)	USP31 (R1240C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187403	NM_020718.4(USP31):c.3715C>T (p.Arg1239Trp)	USP31 (R1199W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517533	NM_020718.4(USP31):c.3614G>A (p.Arg1205His)	USP31 (R1205H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187402	NM_020718.4(USP31):c.3613C>T (p.Arg1205Cys)	USP31 (R1165C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187401	NM_020718.4(USP31):c.3586G>A (p.Val1196Met)	USP31 (V1156M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331440	NM_020718.4(USP31):c.3577G>A (p.Gly1193Arg)	USP31 (G1193R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408258	NM_020718.4(USP31):c.3539G>A (p.Arg1180Gln)	USP31 (R1140Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456320	NM_020718.4(USP31):c.3535C>G (p.Pro1179Ala)	USP31 (P1139A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262885	NM_020718.4(USP31):c.3526C>T (p.Pro1176Ser)	USP31 (P1136S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385839	NM_020718.4(USP31):c.3514T>A (p.Ser1172Thr)	USP31 (S1172T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187400	NM_020718.4(USP31):c.3511A>G (p.Thr1171Ala)	USP31 (T1131A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321020	NM_020718.4(USP31):c.3451G>A (p.Asp1151Asn)	USP31 (D1111N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236296	NM_020718.4(USP31):c.3401C>T (p.Ser1134Leu)	USP31 (S1094L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544354	NM_020718.4(USP31):c.3302C>G (p.Pro1101Arg)	USP31 (P1061R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187399	NM_020718.4(USP31):c.3286A>G (p.Lys1096Glu)	USP31 (K1096E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331441	NM_020718.4(USP31):c.3235T>A (p.Ser1079Thr)	USP31 (S1039T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187398	NM_020718.4(USP31):c.3202C>G (p.Leu1068Val)	USP31 (L1068V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2260642	NM_020718.4(USP31):c.3176C>T (p.Ser1059Phe)	USP31 (S1019F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620104	NM_020718.4(USP31):c.3164G>A (p.Ser1055Asn)	USP31 (S1055N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331438	NM_020718.4(USP31):c.3046G>C (p.Ala1016Pro)	USP31 (A976P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289787	NM_020718.4(USP31):c.3035C>T (p.Pro1012Leu)	USP31 (P972L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250794	NM_020718.4(USP31):c.2999G>C (p.Ser1000Thr)	USP31 (S1000T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646316	NM_020718.4(USP31):c.2991C>T (p.Ser997=)	USP31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618731	NM_020718.4(USP31):c.2986G>C (p.Asp996His)	USP31 (D996H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187396	NM_020718.4(USP31):c.2924G>A (p.Arg975His)	USP31 (R935H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187395	NM_020718.4(USP31):c.2923C>T (p.Arg975Cys)	USP31 (R975C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187394	NM_020718.4(USP31):c.2896C>G (p.Gln966Glu)	USP31 (Q926E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187393	NM_020718.4(USP31):c.2891A>G (p.Asp964Gly)	USP31 (D964G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346627	NM_020718.4(USP31):c.2888T>C (p.Val963Ala)	USP31 (V923A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331448	NM_020718.4(USP31):c.2882G>T (p.Ser961Ile)	USP31 (S921I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331443	NM_020718.4(USP31):c.2861A>T (p.Asp954Val)	USP31 (D914V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219999	NM_020718.4(USP31):c.2856A>C (p.Glu952Asp)	USP31 (E952D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290924	NM_020718.4(USP31):c.2816G>A (p.Arg939Gln)	USP31 (R899Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479231	NM_020718.4(USP31):c.2815C>T (p.Arg939Trp)	USP31 (R899W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187392	NM_020718.4(USP31):c.2752C>G (p.Leu918Val)	USP31 (L878V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612592	NM_020718.4(USP31):c.2751C>G (p.Asn917Lys)	USP31 (N917K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187391	NM_020718.4(USP31):c.2740A>C (p.Ser914Arg)	USP31 (S914R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187390	NM_020718.4(USP31):c.2688G>C (p.Leu896Phe)	USP31 (L856F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331445	NM_020718.4(USP31):c.2588T>C (p.Met863Thr)	USP31 (M823T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402680	NM_020718.4(USP31):c.2585G>T (p.Cys862Phe)	USP31 (C822F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597571	NM_020718.4(USP31):c.2576A>G (p.Asn859Ser)	USP31 (N859S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 984403	NM_020718.4(USP31):c.2533A>G (p.Ser845Gly)	USP31 (S845G +1 more)	Single nucleotide variant (missense variant +1 more)	Sensorineural hearing loss disorder	GUncertain significance
Select item 3187389	NM_020718.4(USP31):c.2528G>A (p.Arg843His)	USP31 (R803H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612685	NM_020718.4(USP31):c.2525A>G (p.Gln842Arg)	USP31 (Q842R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598764	NM_020718.4(USP31):c.2491G>T (p.Gly831Cys)	USP31 (G791C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646317	NM_020718.4(USP31):c.2442G>A (p.Ser814=)	USP31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2473313	NM_020718.4(USP31):c.2425C>T (p.Arg809Cys)	USP31 (R809C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508553	NM_020718.4(USP31):c.2312G>C (p.Trp771Ser)	USP31 (W731S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562216	NM_020718.4(USP31):c.2218G>A (p.Asp740Asn)	USP31 (D700N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268092	NM_020718.4(USP31):c.2200G>A (p.Gly734Ser)	USP31 (G734S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209691	NM_020718.4(USP31):c.2072C>G (p.Pro691Arg)	USP31 (P651R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331442	NM_020718.4(USP31):c.2020C>T (p.His674Tyr)	USP31 (H634Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345106	NM_020718.4(USP31):c.1977G>T (p.Gln659His)	USP31 (Q659H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557320	NM_020718.4(USP31):c.1945C>T (p.Arg649Trp)	USP31 (R649W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187387	NM_020718.4(USP31):c.1840G>A (p.Asp614Asn)	USP31 (D614N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187386	NM_020718.4(USP31):c.1829G>A (p.Arg610Gln)	USP31 (R610Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187385	NM_020718.4(USP31):c.1574A>G (p.Tyr525Cys)	USP31 (Y525C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473283	NM_020718.4(USP31):c.1547G>A (p.Arg516His)	USP31 (R516H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517266	NM_020718.4(USP31):c.1546C>A (p.Arg516Ser)	USP31 (R516S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569791	NM_020718.4(USP31):c.1514C>T (p.Thr505Met)	USP31 (T505M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545023	NM_020718.4(USP31):c.1465C>T (p.Leu489Phe)	USP31 (L489F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484794	NM_020718.4(USP31):c.1262A>T (p.His421Leu)	USP31 (H421L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272704	NM_020718.4(USP31):c.1261C>T (p.His421Tyr)	USP31 (H421Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212092	NM_020718.4(USP31):c.1198G>C (p.Glu400Gln)	USP31 (E400Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613181	NM_020718.4(USP31):c.1090A>G (p.Ile364Val)	USP31 (I364V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331444	NM_020718.4(USP31):c.1082C>G (p.Thr361Ser)	USP31 (T361S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548504	NM_020718.4(USP31):c.1036G>A (p.Val346Ile)	USP31 (V346I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187384	NM_020718.4(USP31):c.1006A>C (p.Ile336Leu)	USP31 (I336L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259230	NM_020718.4(USP31):c.854A>G (p.Gln285Arg)	USP31 (Q285R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187410	NM_020718.4(USP31):c.803G>A (p.Gly268Glu)	USP31 (G268E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331449	NM_020718.4(USP31):c.795G>A (p.Met265Ile)	USP31 (M265I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240738	NM_020718.4(USP31):c.677A>G (p.Gln226Arg)	USP31 (Q226R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187409	NM_020718.4(USP31):c.665G>A (p.Arg222Gln)	USP31 (R222Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270038	NM_020718.4(USP31):c.643T>G (p.Ser215Ala)	USP31 (S215A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397591	NM_020718.4(USP31):c.632A>C (p.Lys211Thr)	LOC130058650, USP31 (K211T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510057	NM_020718.4(USP31):c.610C>T (p.Pro204Ser)	LOC130058650, USP31 (P204S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187408	NM_020718.4(USP31):c.608C>T (p.Thr203Ile)	LOC130058650, USP31 (T203I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187407	NM_020718.4(USP31):c.539C>G (p.Ala180Gly)	LOC130058650, USP31 (A180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534719	NM_020718.4(USP31):c.538G>T (p.Ala180Ser)	LOC130058650, USP31 (A180S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556905	NM_020718.4(USP31):c.532C>T (p.Arg178Cys)	LOC130058650, USP31 (R178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592713	NM_020718.4(USP31):c.513C>G (p.Asp171Glu)	LOC130058650, USP31 (D171E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544514	NM_020718.4(USP31):c.484C>G (p.Arg162Gly)	LOC130058650, USP31 (R162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187406	NM_020718.4(USP31):c.383C>T (p.Ala128Val)	USP31 (A128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331446	NM_020718.4(USP31):c.362C>T (p.Ala121Val)	USP31 (A121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534718	NM_020718.4(USP31):c.355T>A (p.Cys119Ser)	USP31 (C119S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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