28368[HGNC] - ClinVar

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Items: 82

	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	HBZ, HCFC1R1 +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC130058192, LOC130058208 +843 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 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3294435	NM_024109.4(METTL22):c.20C>T (p.Ala7Val)	METTL22 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646179	NM_024109.4(METTL22):c.21G>A (p.Ala7=)	METTL22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3294438	NM_024109.4(METTL22):c.58G>A (p.Val20Met)	METTL22 (V20M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125508	NM_024109.4(METTL22):c.77T>A (p.Leu26His)	METTL22 (L26H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125500	NM_024109.4(METTL22):c.110G>A (p.Arg37Gln)	METTL22 (R37Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294437	NM_024109.4(METTL22):c.200G>T (p.Gly67Val)	METTL22 (G67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535959	NM_024109.4(METTL22):c.304G>A (p.Ala102Thr)	METTL22 (A102T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454424	NM_024109.4(METTL22):c.319A>C (p.Thr107Pro)	METTL22 (T107P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125502	NM_024109.4(METTL22):c.329A>T (p.Glu110Val)	METTL22 (E110V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523826	NM_024109.4(METTL22):c.332T>C (p.Val111Ala)	METTL22 (V111A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294433	NM_024109.4(METTL22):c.370G>A (p.Val124Met)	METTL22 (V124M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366489	NM_024109.4(METTL22):c.380G>C (p.Arg127Thr)	METTL22 (R127T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516903	NM_024109.4(METTL22):c.429G>T (p.Lys143Asn)	METTL22 (K143N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125503	NM_024109.4(METTL22):c.439A>G (p.Met147Val)	METTL22 (M147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381125	NM_024109.4(METTL22):c.463G>A (p.Asp155Asn)	METTL22 (D155N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125504	NM_024109.4(METTL22):c.492C>G (p.Ser164Arg)	METTL22 (S164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125505	NM_024109.4(METTL22):c.568G>A (p.Ala190Thr)	METTL22 (A190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589915	NM_024109.4(METTL22):c.599G>A (p.Arg200Gln)	METTL22 (R200Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294439	NM_024109.4(METTL22):c.616G>C (p.Gly206Arg)	METTL22 (G206R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589518	NM_024109.4(METTL22):c.647C>T (p.Thr216Met)	METTL22 (T216M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526368	NM_024109.4(METTL22):c.683G>A (p.Arg228Gln)	METTL22 (R228Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321092	NM_024109.4(METTL22):c.685A>G (p.Thr229Ala)	METTL22 (T229A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125506	NM_024109.4(METTL22):c.734G>A (p.Arg245Gln)	METTL22 (R245Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303848	NM_024109.4(METTL22):c.745C>T (p.Leu249Phe)	METTL22 (L249F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125507	NM_024109.4(METTL22):c.757C>G (p.Leu253Val)	METTL22 (L253V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294436	NM_024109.4(METTL22):c.781G>A (p.Val261Ile)	METTL22 (V261I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529945	NM_024109.4(METTL22):c.794A>G (p.Glu265Gly)	METTL22 (E265G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407656	NM_024109.4(METTL22):c.806T>C (p.Leu269Pro)	METTL22 (L269P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539751	NM_024109.4(METTL22):c.809A>C (p.Lys270Thr)	METTL22 (K270T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495254	NM_024109.4(METTL22):c.824C>T (p.Thr275Ile)	METTL22 (T275I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228207	NM_024109.4(METTL22):c.833A>G (p.Lys278Arg)	METTL22 (K278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350820	NM_024109.4(METTL22):c.904G>A (p.Glu302Lys)	METTL22 (E302K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294432	NM_024109.4(METTL22):c.1052C>G (p.Ala351Gly)	METTL22 (A351G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346402	NM_024109.4(METTL22):c.1066C>T (p.Arg356Cys)	METTL22 (R356C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125498	NM_024109.4(METTL22):c.1080C>A (p.His360Gln)	METTL22 (H360Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288688	NM_024109.4(METTL22):c.1082C>T (p.Ala361Val)	METTL22 (A361V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290721	NM_024109.4(METTL22):c.1088A>G (p.Glu363Gly)	METTL22 (E363G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298059	NM_024109.4(METTL22):c.1126C>T (p.Pro376Ser)	METTL22 (P376S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294434	NM_024109.4(METTL22):c.1150C>G (p.Leu384Val)	METTL22 (L384V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125501	NM_024109.4(METTL22):c.1157T>C (p.Val386Ala)	METTL22 (V386A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543929	NM_024109.4(METTL22):c.1166G>A (p.Arg389His)	METTL22 (R389H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646181	NM_024109.4(METTL22):c.1180-120_1180-81dup	METTL22	Duplication (intron variant)	not provided	GLikely benign
Select item 2646180	NM_024109.4(METTL22):c.1180-104_1180-103insATGTTGTCTAACTACTCTCCTTGCCTGCTCCGTGGCTGAC	METTL22	Insertion (intron variant)	not provided	GLikely benign
Select item 2363297	NM_024109.4(METTL22):c.1198G>A (p.Ala400Thr)	METTL22 (A400T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684781	GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3	ABAT, CARHSP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2500242	NC_000016.9:g.(?_8160554)_(9074348_?)del	ABAT, CARHSP1 +5 more	Deletion	Hao-Fountain syndrome	GPathogenic
Select item 1808960	GRCh37/hg19 16p13.2(chr16:8728709-8959355)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703617	GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)	ABAT, CARHSP1 +8 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GLikely pathogenic
Select item 1526492	GRCh37/hg19 16p13.2(chr16:8727589-9041590)	PMM2, TMEM186 +4 more	Copy number gain	not specified	GUncertain significance
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 983161	GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3	ABAT, METTL22 +5 more	Copy number gain	See cases	GUncertain significance
Select item 980570	GRCh37/hg19 16p13.2(chr16:8687669-8797595)x1	ABAT, METTL22	Copy number loss	not provided	GUncertain significance
Select item 980569	GRCh37/hg19 16p13.2(chr16:8589179-8837995)x3	METTL22, TMEM114 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980568	GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3	TMEM114, PMM2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980567	GRCh37/hg19 16p13.2(chr16:8559721-8832148)x3	TMEM114, ABAT +1 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689008	GRCh37/hg19 16p13.2(chr16:8621331-8803621)x3	ABAT, METTL22 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687892	GRCh37/hg19 16p13.2(chr16:8635993-8788833)x1	ABAT, METTL22	Copy number loss	not provided	GUncertain significance
Select item 686771	GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4	ABAT, CARHSP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686114	GRCh37/hg19 16p13.2(chr16:8727589-8874779)x3	ABAT, METTL22	Copy number gain	not provided	GUncertain significance
Select item 685214	GRCh37/hg19 16p13.2(chr16:8729039-8819705)x3	ABAT, METTL22	Copy number gain	not provided	GUncertain significance
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 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 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 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	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: 82