29650[HGNC] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 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	ABAT, ABCA3 +843 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	ABAT, ABCA3 +926 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 3307052	NM_004203.5(PKMYT1):c.1476T>G (p.Phe492Leu)	PAQR4, PKMYT1 (F483L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 3307053	NM_004203.5(PKMYT1):c.1145T>C (p.Leu382Pro)	PKMYT1 (L313P +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 3307051	NM_004203.5(PKMYT1):c.401G>A (p.Arg134Gln)	PKMYT1 (R65Q +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 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +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	TIGD7, TMEM204 +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	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +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)	ALG1, BICDL2 +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

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Items: 94