PKMYT1[gene] - ClinVar

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

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 3213892	NM_004203.5(PKMYT1):c.1457G>A (p.Arg486Gln)	PAQR4, PKMYT1 (R417Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2350546	NM_004203.5(PKMYT1):c.1369C>T (p.Arg457Trp)	PAQR4, PKMYT1 (R457W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2218404	NM_004203.5(PKMYT1):c.1300G>C (p.Asp434His)	PKMYT1 (D365H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342072	NM_004203.5(PKMYT1):c.1286G>T (p.Ser429Ile)	PKMYT1 (S429I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281054	NM_004203.5(PKMYT1):c.1265T>G (p.Leu422Arg)	PKMYT1 (L413R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213891	NM_004203.5(PKMYT1):c.1253C>T (p.Pro418Leu)	PKMYT1 (P409L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482387	NM_004203.5(PKMYT1):c.1238C>G (p.Pro413Arg)	PKMYT1 (P344R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231370	NM_004203.5(PKMYT1):c.1186G>A (p.Gly396Arg)	PKMYT1 (G396R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322986	NM_004203.5(PKMYT1):c.1136G>T (p.Gly379Val)	PKMYT1 (G370V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507909	NM_004203.5(PKMYT1):c.1117G>A (p.Ala373Thr)	PKMYT1 (A304T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213890	NM_004203.5(PKMYT1):c.1111A>T (p.Met371Leu)	PKMYT1 (M371L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272328	NM_004203.5(PKMYT1):c.1109G>A (p.Cys370Tyr)	PKMYT1 (C301Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523031	NM_004203.5(PKMYT1):c.1088G>A (p.Arg363Gln)	PKMYT1 (R354Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213889	NM_004203.5(PKMYT1):c.1057C>G (p.Leu353Val)	PKMYT1 (L284V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477708	NM_004203.5(PKMYT1):c.1046C>T (p.Thr349Met)	PKMYT1 (T280M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322712	NM_004203.5(PKMYT1):c.1013T>C (p.Met338Thr)	PKMYT1 (M329T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213888	NM_004203.5(PKMYT1):c.1003G>A (p.Val335Ile)	PKMYT1 (V335I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466442	NM_004203.5(PKMYT1):c.998G>A (p.Arg333His)	PKMYT1 (R324H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470347	NM_004203.5(PKMYT1):c.785G>A (p.Gly262Glu)	PKMYT1 (G193E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230554	NM_004203.5(PKMYT1):c.721C>A (p.Leu241Met)	PKMYT1 (L232M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213900	NM_004203.5(PKMYT1):c.706C>G (p.Pro236Ala)	PKMYT1 (P227A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213899	NM_004203.5(PKMYT1):c.656T>A (p.Leu219His)	PKMYT1 (L150H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361897	NM_004203.5(PKMYT1):c.643C>T (p.Arg215Trp)	PKMYT1 (R206W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708191	NM_004203.5(PKMYT1):c.640C>T (p.Leu214=)	PKMYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3213898	NM_004203.5(PKMYT1):c.622G>A (p.Ala208Thr)	PKMYT1 (A199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394093	NM_004203.5(PKMYT1):c.617C>T (p.Pro206Leu)	PKMYT1 (P137L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406232	NM_004203.5(PKMYT1):c.560C>T (p.Thr187Met)	PKMYT1 (T118M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394084	NM_004203.5(PKMYT1):c.514C>T (p.Arg172Trp)	PKMYT1 (R172W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213896	NM_004203.5(PKMYT1):c.502C>T (p.Pro168Ser)	PKMYT1 (P99S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475582	NM_004203.5(PKMYT1):c.501C>G (p.His167Gln)	PKMYT1 (H98Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589547	NM_004203.5(PKMYT1):c.452G>A (p.Arg151Gln)	PKMYT1 (R82Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406231	NM_004203.5(PKMYT1):c.425T>G (p.Met142Arg)	PKMYT1 (M142R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213895	NM_004203.5(PKMYT1):c.419G>A (p.Arg140His)	PKMYT1 (R71H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292100	NM_004203.5(PKMYT1):c.389A>G (p.Lys130Arg)	PKMYT1 (K130R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509871	NM_004203.5(PKMYT1):c.343C>T (p.Arg115Cys)	PKMYT1 (R106C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617702	NM_004203.5(PKMYT1):c.335G>A (p.Arg112Lys)	PKMYT1 (R103K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292717	NM_004203.5(PKMYT1):c.254G>A (p.Arg85Gln)	PKMYT1 (R16Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539064	NM_004203.5(PKMYT1):c.226C>G (p.Gln76Glu)	PKMYT1 (Q67E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213893	NM_004203.5(PKMYT1):c.161C>T (p.Pro54Leu)	PKMYT1 (P45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478376	NM_004203.5(PKMYT1):c.145C>G (p.Arg49Gly)	PKMYT1 (R40G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485706	NM_004203.5(PKMYT1):c.98G>A (p.Arg33His)	PKMYT1 (R24H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213901	NM_004203.5(PKMYT1):c.97C>T (p.Arg33Cys)	PKMYT1 (R24C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297700	NM_004203.5(PKMYT1):c.70A>G (p.Thr24Ala)	PKMYT1 (T24A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614537	NM_004203.5(PKMYT1):c.53C>T (p.Pro18Leu)	PKMYT1 (P18L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543232	NM_004203.5(PKMYT1):c.14C>T (p.Pro5Leu)	PKMYT1 (P5L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	BICDL2, CLDN6 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 688363	GRCh37/hg19 16p13.3(chr16:2716924-3055626)x3	ELOB, FLYWCH1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687933	GRCh37/hg19 16p13.3(chr16:2859583-3056563)x3	FLYWCH1, FLYWCH2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685548	GRCh37/hg19 16p13.3(chr16:2817166-3056563)x3	ELOB, FLYWCH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394766	GRCh37/hg19 16p13.3(chr16:2998808-3062608)x3	CLDN9, FLYWCH1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89